Incidental Mutation 'R6181:Cntnap2'
ID 488083
Institutional Source Beutler Lab
Gene Symbol Cntnap2
Ensembl Gene ENSMUSG00000039419
Gene Name contactin associated protein-like 2
Synonyms Caspr2, 5430425M22Rik
MMRRC Submission 044323-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6181 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 45036995-47278330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46736742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 723 (P723S)
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: P723S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: P723S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,392,313 (GRCm39) H42R possibly damaging Het
Ankrd26 T A 6: 118,525,838 (GRCm39) H369L probably benign Het
Ano7 T C 1: 93,323,081 (GRCm39) S474P probably damaging Het
Aox3 T C 1: 58,198,105 (GRCm39) V639A probably benign Het
Arhgef2 T A 3: 88,542,927 (GRCm39) V358E probably damaging Het
Brpf3 A G 17: 29,029,555 (GRCm39) Y505C probably damaging Het
Casd1 A G 6: 4,619,331 (GRCm39) T120A probably damaging Het
Ccdc121 A G 5: 31,645,399 (GRCm39) E384G probably damaging Het
Cd200l1 A G 16: 45,238,260 (GRCm39) S185P probably benign Het
Clasp1 T G 1: 118,347,547 (GRCm39) S32A probably benign Het
Clca3a2 A T 3: 144,796,469 (GRCm39) L246* probably null Het
Clcn7 A G 17: 25,370,702 (GRCm39) I353V possibly damaging Het
Cluap1 T A 16: 3,751,608 (GRCm39) D322E probably benign Het
Cmtm4 A C 8: 105,082,997 (GRCm39) probably null Het
Col6a3 T A 1: 90,744,096 (GRCm39) T84S possibly damaging Het
Corin A G 5: 72,529,439 (GRCm39) probably null Het
Cubn G A 2: 13,354,687 (GRCm39) T1903I probably benign Het
Cyp27b1 A C 10: 126,886,279 (GRCm39) D320A probably damaging Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dennd2a T C 6: 39,462,554 (GRCm39) K652R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,760,251 (GRCm39) M1638K probably damaging Het
Efcab3 T C 11: 104,722,159 (GRCm39) S1924P probably benign Het
Eya1 T C 1: 14,373,096 (GRCm39) S8G probably damaging Het
Fam193a T A 5: 34,600,884 (GRCm39) probably null Het
Fbxw11 T A 11: 32,692,575 (GRCm39) N515K probably benign Het
Gm6408 T C 5: 146,420,582 (GRCm39) V154A possibly damaging Het
Guf1 A G 5: 69,719,059 (GRCm39) Y235C probably damaging Het
Hnrnpul2 C T 19: 8,800,596 (GRCm39) S224L possibly damaging Het
Igkv8-19 T A 6: 70,317,968 (GRCm39) D86V probably damaging Het
Iqcf1 A T 9: 106,379,174 (GRCm39) D61V probably damaging Het
Lrp5 T C 19: 3,678,427 (GRCm39) D476G probably damaging Het
Luzp1 A G 4: 136,270,578 (GRCm39) T934A probably benign Het
Mboat7 A T 7: 3,686,884 (GRCm39) Y319N probably benign Het
Mdn1 A G 4: 32,715,953 (GRCm39) E2045G probably damaging Het
Mfsd14b T C 13: 65,260,398 (GRCm39) R12G probably benign Het
Micall2 T A 5: 139,702,506 (GRCm39) T246S probably benign Het
Npepps A G 11: 97,132,830 (GRCm39) V299A probably damaging Het
Or2y11 T A 11: 49,443,120 (GRCm39) V182D probably damaging Het
P2ry13 A G 3: 59,117,328 (GRCm39) V150A probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Pde8b C T 13: 95,223,316 (GRCm39) E313K probably benign Het
Pgap1 C T 1: 54,551,936 (GRCm39) G499R probably benign Het
Ppp1r15b T A 1: 133,060,261 (GRCm39) C259* probably null Het
Pramel21 T A 4: 143,342,828 (GRCm39) probably null Het
Ptgs1 A G 2: 36,141,131 (GRCm39) E526G probably damaging Het
Ptpn21 A G 12: 98,666,258 (GRCm39) L271P probably damaging Het
Rbm47 T C 5: 66,183,833 (GRCm39) T257A possibly damaging Het
Rfc3 C T 5: 151,570,985 (GRCm39) D104N probably damaging Het
Rhobtb3 A G 13: 76,058,808 (GRCm39) I330T probably benign Het
Rnf207 T C 4: 152,393,305 (GRCm39) T570A probably benign Het
Rusf1 A G 7: 127,896,632 (GRCm39) probably null Het
Sbpl T C 17: 24,172,466 (GRCm39) H151R probably damaging Het
Sstr3 T C 15: 78,423,661 (GRCm39) D362G probably benign Het
St7 T C 6: 17,694,363 (GRCm39) probably null Het
Tasor T A 14: 27,194,235 (GRCm39) M1145K probably benign Het
Tdrd6 A G 17: 43,939,788 (GRCm39) V420A probably damaging Het
Tet2 C A 3: 133,193,520 (GRCm39) E305* probably null Het
Tmem209 A T 6: 30,505,970 (GRCm39) V68E probably damaging Het
Tmod4 A T 3: 95,035,118 (GRCm39) I208F probably damaging Het
Tpo G A 12: 30,181,884 (GRCm39) L4F probably benign Het
Urb1 T C 16: 90,575,982 (GRCm39) H858R probably benign Het
Utrn A G 10: 12,615,200 (GRCm39) W324R probably damaging Het
V1rd19 T A 7: 23,702,640 (GRCm39) F35L possibly damaging Het
Vmn1r170 C A 7: 23,305,692 (GRCm39) N31K probably damaging Het
Vmn1r192 T A 13: 22,371,452 (GRCm39) Y256F probably damaging Het
Vmn2r124 T C 17: 18,294,019 (GRCm39) I702T possibly damaging Het
Vmn2r96 G A 17: 18,804,126 (GRCm39) A459T probably benign Het
Vwf G T 6: 125,543,109 (GRCm39) A132S probably damaging Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp608 A G 18: 55,028,700 (GRCm39) S1238P possibly damaging Het
Zfp804a G T 2: 82,087,486 (GRCm39) M438I probably damaging Het
Zgrf1 G A 3: 127,381,590 (GRCm39) G246S probably damaging Het
Zwint T C 10: 72,492,431 (GRCm39) V115A probably benign 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
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
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'- ATGGGCATGCATTTGGTCTATC -3'
(R):5'- TGTCTACTAAATTAGCTCCCCACAC -3'

Sequencing Primer
(F):5'- GGTCTATCAGAAACTGCTATAGCTCC -3'
(R):5'- AAATTAGCTCCCCACACTTCTTAC -3'
Posted On 2017-10-10