Gene: Ppip5k2 MGI:2142810

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Gene Summary

Name:
diphosphoinositol pentakisphosphate kinase 2
Synonyms:
Vip2,  Hisppd1,  Cfap160

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Ppip5k2tm1b(EUCOMM)Wtsi HET Early adult 8.37×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Adult LacZ

LacZ Images Section

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Ppip5k2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ppip5k2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422

The table below shows human diseases predicted to be associated to Ppip5k2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 84A
Hearing impairment, Vestibular dysfunction OMIM:613391
Deafness, Autosomal Recessive 1B
Hearing impairment, Vestibular dysfunction OMIM:612645
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 88
Hearing impairment OMIM:615429
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response... ORPHA:52368
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensori... OMIM:619260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Diffuse cerebral atrophy ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Cerebellar atrophy OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Atrophy of the spinal cord, Abnormal auto... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:101085
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hearing impairment, Optic atrophy, Decreased nerv... ORPHA:206436
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Low-set ears, Posteriorly rotated ears, Ab... ORPHA:171929
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal motor evoked potentials, Cerebellar atrophy, Abnormal auditory evo... ORPHA:909
Cockayne Syndrome A
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:216400
Cockayne Syndrome B
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:133540
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppip5k2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppip5k2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. Scientific reports (December 2019) Ppip5k2tm1b(EUCOMM)Wtsi PMC6920454
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS genetics (March 2018) Ppip5k2tm1a(EUCOMM)Wtsi PMC5891075

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MGI Allele Allele Type Produced
Ppip5k2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppip5k2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Ppip5k2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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