Incidental Mutation 'R1387:Cntnap2'
ID 162422
Institutional Source Beutler Lab
Gene Symbol Cntnap2
Ensembl Gene ENSMUSG00000039419
Gene Name contactin associated protein-like 2
Synonyms Caspr2, 5430425M22Rik
MMRRC Submission 039449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1387 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 45036995-47278330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47084848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1103 (V1103A)
Ref Sequence ENSEMBL: ENSMUSP00000110288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114641]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000114641
AA Change: V1103A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: V1103A

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
Meta Mutation Damage Score 0.0885 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.4%
Validation Efficiency 99% (82/83)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik T A 9: 98,068,812 (GRCm39) noncoding transcript Het
4930447C04Rik C A 12: 72,962,208 (GRCm39) R52L probably benign Het
Abca13 C T 11: 9,632,085 (GRCm39) Q5002* probably null Het
Acacb T C 5: 114,338,573 (GRCm39) I761T probably benign Het
Acap3 G T 4: 155,983,937 (GRCm39) L134F probably benign Het
Adamtsl1 T C 4: 86,293,230 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,641,295 (GRCm39) V3278A possibly damaging Het
Agxt2 T C 15: 10,380,696 (GRCm39) Y196H probably damaging Het
Akap13 T C 7: 75,235,941 (GRCm39) V172A probably damaging Het
Aqp8 A G 7: 123,065,891 (GRCm39) I229V probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brd10 A G 19: 29,700,853 (GRCm39) I812T probably benign Het
Cacng8 T C 7: 3,463,672 (GRCm39) S275P possibly damaging Het
Catsperg1 T C 7: 28,906,289 (GRCm39) Y138C probably damaging Het
Ccdc93 T G 1: 121,418,918 (GRCm39) L491R probably damaging Het
Col12a1 C T 9: 79,588,657 (GRCm39) probably benign Het
Col6a3 A G 1: 90,750,138 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,182,414 (GRCm39) A6T probably damaging Het
Cyp2j5 T A 4: 96,522,522 (GRCm39) S351C probably damaging Het
Cyth1 A G 11: 118,073,172 (GRCm39) probably benign Het
Dock2 A G 11: 34,223,309 (GRCm39) probably benign Het
Duoxa1 T A 2: 122,134,468 (GRCm39) I262F possibly damaging Het
Dync2h1 T C 9: 7,125,816 (GRCm39) D1930G probably benign Het
Eeig1 T C 2: 32,455,635 (GRCm39) S254P possibly damaging Het
Eno1 C T 4: 150,332,590 (GRCm39) probably benign Het
Fam98a T A 17: 75,845,264 (GRCm39) H494L unknown Het
Fcamr C A 1: 130,732,379 (GRCm39) T122K possibly damaging Het
Foxq1 A G 13: 31,743,288 (GRCm39) D130G probably damaging Het
Glb1 T A 9: 114,249,431 (GRCm39) W5R probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm5431 T A 11: 48,785,842 (GRCm39) R178W possibly damaging Het
Gys2 C T 6: 142,407,009 (GRCm39) V116M probably benign Het
Hif1a C T 12: 73,989,066 (GRCm39) T651I possibly damaging Het
Itgb5 T A 16: 33,720,885 (GRCm39) Y3* probably null Het
Kank3 A G 17: 34,035,205 (GRCm39) N7S possibly damaging Het
Kdm2b G T 5: 123,018,331 (GRCm39) H981Q probably damaging Het
Kdm6a C T X: 18,120,235 (GRCm39) probably benign Het
Kif1a A T 1: 92,983,672 (GRCm39) probably benign Het
Knl1 T A 2: 118,901,211 (GRCm39) S971T possibly damaging Het
Lcn6 T C 2: 25,567,149 (GRCm39) V50A possibly damaging Het
Llgl2 G T 11: 115,743,958 (GRCm39) V762F probably damaging Het
Lpcat4 T C 2: 112,075,021 (GRCm39) F342L probably benign Het
Lrp2 C A 2: 69,287,262 (GRCm39) G3725V probably damaging Het
Map1b T C 13: 99,569,158 (GRCm39) T1188A unknown Het
Mecp2 G A X: 73,079,394 (GRCm39) P362S possibly damaging Het
Mideas C A 12: 84,199,705 (GRCm39) R1005L probably damaging Het
Mmp13 T A 9: 7,282,033 (GRCm39) F445Y possibly damaging Het
Myo5b G T 18: 74,777,272 (GRCm39) probably benign Het
Myo7b A G 18: 32,116,805 (GRCm39) probably benign Het
Nadk2 C A 15: 9,106,870 (GRCm39) L384I possibly damaging Het
Napg A G 18: 63,119,283 (GRCm39) I98V possibly damaging Het
Ncoa1 G T 12: 4,324,790 (GRCm39) N1041K probably benign Het
Nmu A T 5: 76,497,992 (GRCm39) C64* probably null Het
Nobox T A 6: 43,284,132 (GRCm39) K13M probably damaging Het
Nos1 T C 5: 118,091,848 (GRCm39) probably benign Het
Nrg2 A G 18: 36,329,792 (GRCm39) V141A probably damaging Het
Or1b1 T G 2: 36,994,880 (GRCm39) I261L probably benign Het
Or2aj5 T C 16: 19,424,777 (GRCm39) I214V probably damaging Het
Or55b4 T A 7: 102,133,911 (GRCm39) I139L probably benign Het
Phldb2 C T 16: 45,646,357 (GRCm39) E71K possibly damaging Het
Pik3r4 T A 9: 105,521,490 (GRCm39) Y19N probably damaging Het
Pkhd1 A C 1: 20,625,447 (GRCm39) probably benign Het
Pogk G T 1: 166,227,707 (GRCm39) P148Q possibly damaging Het
Pten G T 19: 32,775,496 (GRCm39) A79S probably benign Het
Ptpdc1 A T 13: 48,739,796 (GRCm39) V545E possibly damaging Het
Qdpr G C 5: 45,607,480 (GRCm39) probably benign Het
Rhbdd3 T A 11: 5,054,121 (GRCm39) H83Q probably damaging Het
Rnf6 A G 5: 146,148,055 (GRCm39) V321A probably benign Het
Rtf1 T A 2: 119,536,126 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,500 (GRCm39) V240I probably benign Het
Siah2 A G 3: 58,598,935 (GRCm39) V101A possibly damaging Het
Taok3 A G 5: 117,344,720 (GRCm39) K46R probably damaging Het
Tcaf2 A C 6: 42,601,512 (GRCm39) L849R probably damaging Het
Upf3a T C 8: 13,842,118 (GRCm39) F178S probably damaging Het
Vmn1r218 G A 13: 23,321,478 (GRCm39) G195D probably damaging Het
Vmn2r59 A G 7: 41,695,521 (GRCm39) V297A probably damaging Het
Vmn2r70 T A 7: 85,207,969 (GRCm39) Q836L probably benign Het
Zfp473 A G 7: 44,382,365 (GRCm39) V655A probably benign Het
Zic5 A G 14: 122,696,897 (GRCm39) S573P unknown 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
IGL02802:Cntnap2 UTSW 6 46,147,179 (GRCm39) missense probably damaging 1.00
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
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'- GGTAATGTGAAGCTGGAATTGCTGC -3'
(R):5'- CCAGGCAACTTAATGATATCCTGCCAC -3'

Sequencing Primer
(F):5'- GCAGTGGGTGAGATGGC -3'
(R):5'- gcaaggacctagatttgatccac -3'
Posted On 2014-03-17