Gene Summary

Name:
proline-rich coiled-coil 2C
Synonyms:
Bat2d,  1810043M20Rik,  9630039I18Rik,  Bat2l2

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
abnormal neural tube morphology Prrc2cem1(IMPC)J HOM E9.5 0.00
abnormal coat/ hair morphology Prrc2cem1(IMPC)J HET Early adult 2.71×10-05
abnormal embryo size Prrc2cem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Prrc2cem1(IMPC)J HOM   Early adult 0.00
abnormal neural tube closure Prrc2cem1(IMPC)J HOM E9.5 0.00
abnormal auditory brainstem response Prrc2cem1(IMPC)J HET   Early adult 5.52×10-05
abnormal vocalization Prrc2cem1(IMPC)J HET Early adult 2.40×10-10
hyperactivity Prrc2cem1(IMPC)J HET Early adult 2.19×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Prrc2c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prrc2c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Abcd Syndrome
Abnormal auditory evoked potentials, Albinism, Aganglionic megacolon, Hearing impairment OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism ORPHA:85288
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Alazami-Yuan Syndrome
Long eyelashes, Thick eyebrow, Hyperactivity, Highly arched eyebrow, Low anterior hairline, Synop... OMIM:617126
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Long eyelashes, Thick eyebrow, Hyperactivity, Highly arched eyebro... OMIM:617773
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Frontal upsweep of hair OMIM:300983
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Coffin-Siris Syndrome 8
Thick eyebrow, Hyperactivity, Sparse scalp hair, Long eyelashes OMIM:618362
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Hyperactivity, Sparse eyebrow, Highly arched eyebrow OMIM:300979
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hyperactivity, EEG with generalized epileptiform discharg... ORPHA:88616
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism OMIM:300434
Fraxe Intellectual Disability
Hyperactivity, Prominent ear helix ORPHA:100973
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Low-set ears, Highly arched eyebrow OMIM:618342
Xq25 Microduplication Syndrome
Hyperactivity, Sparse eyebrow, Highly arched eyebrow ORPHA:521258
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia, Synophrys OMIM:615541
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Landau-Kleffner Syndrome
Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormality, EEG with... ORPHA:98818
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
Morm Syndrome
Hyperactivity ORPHA:75858
Coffin-Siris Syndrome 7
Low-set ears, Thick eyebrow, Hyperactivity, Posteriorly rotated ears, Macrotia, Sparse scalp hair... OMIM:618027
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity, Hirsutism, Long eyelashes OMIM:613684
Optic Atrophy 11
Hyperactivity, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, EEG abnormality ORPHA:411515
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... ORPHA:1942
Phenylketonuria
Fair hair, Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Low-set ears OMIM:618718
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Synophrys OMIM:619260
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Synophrys OMIM:613192
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Synophrys OMIM:300143
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... ORPHA:73272
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hyperactivity, Synophrys, Hirsutism, Hearing impairment OMIM:252920
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hyperactivity, Synophrys, Hirsutism, Hearing impairment OMIM:252900
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Hearing impairment ORPHA:369939
Cln5 Disease
EEG with generalized slow activity, Hyperactivity, EEG with spike-wave complexes, Multifocal epil... ORPHA:228360
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Synophrys OMIM:615824
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, EEG with series of focal spikes, EEG with photoparoxysmal res... ORPHA:168491
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hyperactivity, Synophrys, Hirsutism, Hearing impairment OMIM:252930
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyebrow, Sensorineural hearing impairment, White forelock, Aganglionic megacolon, Abnormal ... OMIM:609136
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Mogs-Cdg
Fair hair, Long eyelashes, Sensorineural hearing impairment, Alopecia, Absent brainstem auditory ... ORPHA:79330
Alg3-Cdg
Neural tube defect ORPHA:79321
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Interictal epileptiform activity, Hyperactivity, EEG with gen... ORPHA:163681
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality OMIM:610042
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Nail dystrophy, Sparse scalp hair, P... OMIM:256800
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Cockayne Syndrome Type 1
Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... ORPHA:90321
Cockayne Syndrome B
Abnormal hair morphology, Sensorineural hearing impairment, Decreased nerve conduction velocity, ... OMIM:133540
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears ORPHA:401973
Cockayne Syndrome A
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:216400
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Histidinemia
Hyperactivity ORPHA:2157
Brooks-Wisniewski-Brown syndrome
EEG abnormality, Cupped ear, Low-set ears, Hyperactivity, Posteriorly rotated ears, Protruding ea... OMIM:300612
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:220386

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 Prrc2c

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 Prrc2c.

No publications found that use IMPC mice or data for Prrc2c.

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MGI Allele Allele Type Produced
Prrc2ctm460365(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prrc2cem1(IMPC)J Exon Deletion Mice

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