Incidental Mutation 'IGL02802:Cntnap2'
ID 392083
Institutional Source Beutler Lab
Gene Symbol Cntnap2
Ensembl Gene ENSMUSG00000039419
Gene Name contactin associated protein-like 2
Synonyms Caspr2, 5430425M22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02802 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 45036995-47278330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46147179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 475 (D475V)
Ref Sequence ENSEMBL: ENSMUSP00000110288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114641]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114641
AA Change: D475V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: D475V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FA58C 34 181 3.99e-22 SMART
LamG 208 345 5.5e-34 SMART
LamG 393 529 3.31e-28 SMART
EGF 557 591 5.04e-2 SMART
Blast:FBG 594 777 7e-68 BLAST
LamG 819 945 5.58e-35 SMART
EGF 966 1002 2.11e1 SMART
LamG 1048 1188 3.55e-28 SMART
low complexity region 1263 1273 N/A INTRINSIC
4.1m 1283 1301 4.21e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196561
Meta Mutation Damage Score 0.8481 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]
PHENOTYPE: Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A C 1: 130,671,130 (GRCm39) T451P probably benign Het
Actbl2 A G 13: 111,392,310 (GRCm39) E215G probably damaging Het
Adh6b A G 3: 138,058,545 (GRCm39) T198A possibly damaging Het
Bicd2 A G 13: 49,531,804 (GRCm39) K349E probably damaging Het
Bsnd T A 4: 106,349,231 (GRCm39) D3V probably damaging Het
Cd83 T A 13: 43,953,147 (GRCm39) L142Q probably null Het
Cdh20 A G 1: 110,065,655 (GRCm39) E643G probably damaging Het
Ces1b T G 8: 93,783,594 (GRCm39) E542A possibly damaging Het
Cfhr2 A G 1: 139,738,762 (GRCm39) probably benign Het
Clip1 T C 5: 123,769,186 (GRCm39) D471G probably damaging Het
Cntn5 C A 9: 10,048,683 (GRCm39) probably null Het
Cntnap5c T C 17: 58,612,679 (GRCm39) F906S probably benign Het
Cobll1 A T 2: 64,928,663 (GRCm39) S888T probably damaging Het
Csf2rb G A 15: 78,223,103 (GRCm39) R105Q probably benign Het
Ctnnd1 C A 2: 84,454,806 (GRCm39) M1I probably null Het
Cxxc1 C T 18: 74,352,481 (GRCm39) Q354* probably null Het
Dnhd1 A G 7: 105,304,930 (GRCm39) D324G possibly damaging Het
Donson T C 16: 91,478,196 (GRCm39) D435G possibly damaging Het
Ephb1 T C 9: 101,887,218 (GRCm39) K474E possibly damaging Het
Erbin A G 13: 104,004,638 (GRCm39) L130P probably damaging Het
Fam221a C T 6: 49,355,411 (GRCm39) T171I probably damaging Het
Farp2 A G 1: 93,456,332 (GRCm39) E5G probably damaging Het
Fblim1 A G 4: 141,317,431 (GRCm39) S85P possibly damaging Het
Fhl2 A T 1: 43,162,761 (GRCm39) C251* probably null Het
Glis2 T C 16: 4,429,735 (GRCm39) probably null Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gm10717 C T 9: 3,031,999 (GRCm39) P127S probably benign Het
Heatr6 T C 11: 83,651,762 (GRCm39) L246P probably damaging Het
Igkv5-39 G A 6: 69,877,457 (GRCm39) P100S probably benign Het
Jup T C 11: 100,269,204 (GRCm39) D403G probably benign Het
Kank1 T C 19: 25,388,963 (GRCm39) Y879H probably damaging Het
Kcna3 G A 3: 106,944,369 (GRCm39) E211K probably damaging Het
Klc3 A T 7: 19,129,049 (GRCm39) I440N possibly damaging Het
Mmp1b T C 9: 7,384,709 (GRCm39) T280A probably benign Het
Nat3 A T 8: 68,000,160 (GRCm39) Q13L probably benign Het
Nckap1l A G 15: 103,372,963 (GRCm39) N272S probably benign Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Nsd3 T C 8: 26,130,922 (GRCm39) S96P probably damaging Het
Ntaq1 A G 15: 58,011,833 (GRCm39) S65G probably benign Het
Nudt16l1 C T 16: 4,757,131 (GRCm39) R43C probably damaging Het
Obscn T A 11: 58,891,310 (GRCm39) Q7074L unknown Het
Or4p20 A G 2: 88,253,832 (GRCm39) V179A probably benign Het
Or5m12 A G 2: 85,734,733 (GRCm39) S222P probably damaging Het
Or5p78 A T 7: 108,211,669 (GRCm39) I52F probably damaging Het
Or6c206 T A 10: 129,097,136 (GRCm39) probably null Het
Or8b37 T G 9: 37,959,345 (GRCm39) Y276D probably damaging Het
Or8k30 T A 2: 86,339,290 (GRCm39) N162K probably benign Het
P4htm C T 9: 108,460,055 (GRCm39) D240N probably benign Het
Plekhm2 A T 4: 141,369,835 (GRCm39) probably benign Het
Plppr5 T C 3: 117,456,228 (GRCm39) S250P probably damaging Het
Pmis2 T C 7: 30,370,919 (GRCm39) K12E probably benign Het
Ppox A T 1: 171,105,066 (GRCm39) L374* probably null Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Tdo2 A G 3: 81,883,004 (GRCm39) probably benign Het
Tent2 A T 13: 93,285,449 (GRCm39) N436K probably damaging Het
Thbs2 A G 17: 14,904,389 (GRCm39) I326T probably benign Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Ttc6 A T 12: 57,622,654 (GRCm39) M18L probably benign Het
Ttn C T 2: 76,604,924 (GRCm39) V18337I probably damaging Het
Txndc2 A G 17: 65,946,601 (GRCm39) S34P possibly damaging Het
Vps72 T A 3: 95,026,545 (GRCm39) C163* probably null Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly damaging Het
Other mutations in Cntnap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Cntnap2 APN 6 45,992,197 (GRCm39) missense possibly damaging 0.92
IGL00657:Cntnap2 APN 6 46,965,721 (GRCm39) missense probably damaging 0.98
IGL00846:Cntnap2 APN 6 47,169,972 (GRCm39) missense probably benign 0.12
IGL00851:Cntnap2 APN 6 46,461,006 (GRCm39) missense probably benign
IGL00857:Cntnap2 APN 6 47,026,358 (GRCm39) missense probably benign 0.00
IGL01290:Cntnap2 APN 6 45,992,399 (GRCm39) missense probably benign 0.06
IGL01445:Cntnap2 APN 6 47,169,947 (GRCm39) missense probably benign 0.14
IGL01468:Cntnap2 APN 6 47,248,305 (GRCm39) nonsense probably null
IGL01859:Cntnap2 APN 6 46,965,655 (GRCm39) missense probably damaging 1.00
IGL02092:Cntnap2 APN 6 46,211,137 (GRCm39) missense probably damaging 1.00
IGL02239:Cntnap2 APN 6 46,998,588 (GRCm39) missense probably damaging 0.99
IGL02508:Cntnap2 APN 6 46,211,254 (GRCm39) missense probably damaging 1.00
IGL02530:Cntnap2 APN 6 46,998,670 (GRCm39) missense possibly damaging 0.48
IGL03013:Cntnap2 APN 6 47,072,483 (GRCm39) missense possibly damaging 0.66
BB004:Cntnap2 UTSW 6 47,072,621 (GRCm39) missense possibly damaging 0.93
BB014:Cntnap2 UTSW 6 47,072,621 (GRCm39) missense possibly damaging 0.93
R0001:Cntnap2 UTSW 6 46,507,105 (GRCm39) missense probably benign 0.04
R0007:Cntnap2 UTSW 6 45,969,007 (GRCm39) missense possibly damaging 0.95
R0007:Cntnap2 UTSW 6 45,969,007 (GRCm39) missense possibly damaging 0.95
R0043:Cntnap2 UTSW 6 46,460,917 (GRCm39) missense probably benign 0.01
R0118:Cntnap2 UTSW 6 45,037,326 (GRCm39) splice site probably null
R0352:Cntnap2 UTSW 6 45,969,018 (GRCm39) splice site probably null
R0389:Cntnap2 UTSW 6 45,986,571 (GRCm39) missense probably benign 0.06
R0482:Cntnap2 UTSW 6 45,692,750 (GRCm39) missense probably benign 0.00
R0530:Cntnap2 UTSW 6 46,506,839 (GRCm39) nonsense probably null
R0611:Cntnap2 UTSW 6 47,072,483 (GRCm39) missense possibly damaging 0.66
R0630:Cntnap2 UTSW 6 46,965,694 (GRCm39) missense probably damaging 0.99
R0636:Cntnap2 UTSW 6 47,273,642 (GRCm39) splice site probably benign
R0976:Cntnap2 UTSW 6 47,248,164 (GRCm39) missense probably damaging 1.00
R1195:Cntnap2 UTSW 6 46,460,902 (GRCm39) missense probably benign
R1195:Cntnap2 UTSW 6 46,460,902 (GRCm39) missense probably benign
R1195:Cntnap2 UTSW 6 46,460,902 (GRCm39) missense probably benign
R1387:Cntnap2 UTSW 6 47,084,848 (GRCm39) missense probably benign 0.19
R1524:Cntnap2 UTSW 6 46,507,613 (GRCm39) missense probably damaging 1.00
R1609:Cntnap2 UTSW 6 45,992,264 (GRCm39) missense probably benign 0.13
R1716:Cntnap2 UTSW 6 47,084,826 (GRCm39) nonsense probably null
R1757:Cntnap2 UTSW 6 46,736,763 (GRCm39) missense probably damaging 1.00
R1809:Cntnap2 UTSW 6 46,965,609 (GRCm39) missense probably damaging 0.99
R1813:Cntnap2 UTSW 6 46,507,567 (GRCm39) missense probably damaging 1.00
R2103:Cntnap2 UTSW 6 47,275,522 (GRCm39) missense probably damaging 1.00
R2133:Cntnap2 UTSW 6 47,275,379 (GRCm39) missense probably damaging 1.00
R3037:Cntnap2 UTSW 6 45,992,200 (GRCm39) missense possibly damaging 0.57
R3899:Cntnap2 UTSW 6 45,968,837 (GRCm39) missense probably benign 0.00
R4027:Cntnap2 UTSW 6 46,833,062 (GRCm39) missense probably benign
R4030:Cntnap2 UTSW 6 46,833,062 (GRCm39) missense probably benign
R4237:Cntnap2 UTSW 6 46,507,324 (GRCm39) intron probably benign
R4445:Cntnap2 UTSW 6 46,736,785 (GRCm39) missense probably benign 0.01
R4737:Cntnap2 UTSW 6 45,037,251 (GRCm39) missense possibly damaging 0.65
R4740:Cntnap2 UTSW 6 45,037,251 (GRCm39) missense possibly damaging 0.65
R4915:Cntnap2 UTSW 6 46,506,969 (GRCm39) intron probably benign
R4918:Cntnap2 UTSW 6 46,506,969 (GRCm39) intron probably benign
R4999:Cntnap2 UTSW 6 45,897,768 (GRCm39) missense probably damaging 0.96
R5373:Cntnap2 UTSW 6 47,084,903 (GRCm39) missense probably benign 0.00
R5374:Cntnap2 UTSW 6 47,084,903 (GRCm39) missense probably benign 0.00
R5742:Cntnap2 UTSW 6 45,897,860 (GRCm39) nonsense probably null
R5748:Cntnap2 UTSW 6 45,692,818 (GRCm39) missense probably damaging 1.00
R5765:Cntnap2 UTSW 6 46,506,749 (GRCm39) intron probably benign
R6118:Cntnap2 UTSW 6 47,170,011 (GRCm39) missense possibly damaging 0.81
R6181:Cntnap2 UTSW 6 46,736,742 (GRCm39) missense probably damaging 1.00
R6189:Cntnap2 UTSW 6 47,248,232 (GRCm39) missense probably damaging 1.00
R6262:Cntnap2 UTSW 6 45,037,046 (GRCm39) splice site probably null
R6385:Cntnap2 UTSW 6 46,833,114 (GRCm39) missense probably benign 0.00
R6555:Cntnap2 UTSW 6 46,736,694 (GRCm39) missense probably damaging 1.00
R6577:Cntnap2 UTSW 6 46,147,206 (GRCm39) missense probably benign 0.25
R6610:Cntnap2 UTSW 6 45,992,191 (GRCm39) missense probably benign 0.08
R6761:Cntnap2 UTSW 6 47,026,307 (GRCm39) missense probably benign 0.03
R7125:Cntnap2 UTSW 6 46,965,580 (GRCm39) missense probably benign 0.12
R7329:Cntnap2 UTSW 6 47,248,205 (GRCm39) missense possibly damaging 0.94
R7502:Cntnap2 UTSW 6 46,460,963 (GRCm39) missense possibly damaging 0.83
R7927:Cntnap2 UTSW 6 47,072,621 (GRCm39) missense possibly damaging 0.93
R8057:Cntnap2 UTSW 6 46,324,079 (GRCm39) missense probably damaging 0.98
R8261:Cntnap2 UTSW 6 47,072,627 (GRCm39) missense probably damaging 0.98
R8356:Cntnap2 UTSW 6 47,026,307 (GRCm39) missense probably benign 0.03
R8479:Cntnap2 UTSW 6 46,736,707 (GRCm39) missense probably benign 0.14
R8503:Cntnap2 UTSW 6 45,968,975 (GRCm39) missense probably damaging 1.00
R8698:Cntnap2 UTSW 6 47,026,156 (GRCm39) missense probably damaging 1.00
R8719:Cntnap2 UTSW 6 45,978,161 (GRCm39) missense probably damaging 1.00
R8816:Cntnap2 UTSW 6 46,833,076 (GRCm39) missense possibly damaging 0.72
R8987:Cntnap2 UTSW 6 46,460,983 (GRCm39) missense probably benign 0.01
R9000:Cntnap2 UTSW 6 46,461,139 (GRCm39) intron probably benign
R9209:Cntnap2 UTSW 6 47,026,183 (GRCm39) missense probably damaging 1.00
R9253:Cntnap2 UTSW 6 45,978,112 (GRCm39) missense probably benign 0.00
R9310:Cntnap2 UTSW 6 45,978,281 (GRCm39) missense probably damaging 1.00
R9395:Cntnap2 UTSW 6 45,978,244 (GRCm39) missense probably damaging 0.98
R9462:Cntnap2 UTSW 6 46,211,217 (GRCm39) missense probably damaging 0.99
R9526:Cntnap2 UTSW 6 45,992,165 (GRCm39) missense probably damaging 1.00
R9600:Cntnap2 UTSW 6 45,969,009 (GRCm39) missense probably damaging 0.98
R9621:Cntnap2 UTSW 6 46,965,726 (GRCm39) missense probably damaging 0.98
R9738:Cntnap2 UTSW 6 45,992,373 (GRCm39) frame shift probably null
R9745:Cntnap2 UTSW 6 46,211,100 (GRCm39) missense probably benign 0.01
R9775:Cntnap2 UTSW 6 47,026,261 (GRCm39) missense probably damaging 1.00
RF022:Cntnap2 UTSW 6 46,998,599 (GRCm39) missense probably damaging 1.00
X0018:Cntnap2 UTSW 6 45,986,452 (GRCm39) missense possibly damaging 0.53
X0063:Cntnap2 UTSW 6 46,998,688 (GRCm39) missense possibly damaging 0.92
X0066:Cntnap2 UTSW 6 46,211,179 (GRCm39) missense probably benign 0.03
Z1176:Cntnap2 UTSW 6 47,248,082 (GRCm39) missense probably benign 0.00
Z1177:Cntnap2 UTSW 6 45,992,233 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TCAGCCACAAGAATTCCCTG -3'
(R):5'- AAGGCCTACTGGGTTCCTTCAG -3'

Sequencing Primer
(F):5'- GCCACAAGAATTCCCTGAAATATTAC -3'
(R):5'- CTACTGGGTTCCTTCAGTTAAATAC -3'
Posted On 2016-06-09