Incidental Mutation 'R6242:Cntnap1'
ID 505315
Institutional Source Beutler Lab
Gene Symbol Cntnap1
Ensembl Gene ENSMUSG00000017167
Gene Name contactin associated protein-like 1
Synonyms Nrxn4, NCP1, Caspr, paranodin, p190, shm
MMRRC Submission 044434-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R6242 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101073364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 615 (Y615F)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably damaging
Transcript: ENSMUST00000103109
AA Change: Y615F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: Y615F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FA58C 25 169 7.49e-36 SMART
LamG 196 333 2.86e-32 SMART
LamG 382 516 3.49e-27 SMART
EGF 544 578 2.28e0 SMART
Blast:FBG 580 777 1e-133 BLAST
LamG 806 940 1.95e-25 SMART
EGF_like 961 997 6.03e1 SMART
low complexity region 1032 1044 N/A INTRINSIC
low complexity region 1047 1058 N/A INTRINSIC
low complexity region 1063 1078 N/A INTRINSIC
LamG 1081 1219 2.59e-30 SMART
4.1m 1305 1323 7.85e-7 SMART
low complexity region 1333 1370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138942
Meta Mutation Damage Score 0.0784 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 G T 15: 98,501,896 (GRCm39) C239* probably null Het
Akr1c6 A G 13: 4,486,361 (GRCm39) Q56R probably benign Het
Apaf1 T A 10: 90,898,025 (GRCm39) D244V probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef11 C A 3: 87,635,385 (GRCm39) A898E probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atf6 T A 1: 170,621,545 (GRCm39) Q492L possibly damaging Het
Atrnl1 G T 19: 57,630,910 (GRCm39) V226F probably benign Het
Cfap68 C T 9: 50,675,215 (GRCm39) E148K probably benign Het
Crybg3 T C 16: 59,376,053 (GRCm39) T1734A probably benign Het
Ctdp1 A C 18: 80,502,427 (GRCm39) V161G probably damaging Het
Cyp4a30b T A 4: 115,311,587 (GRCm39) V85E possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha6 A T 16: 59,503,025 (GRCm39) W961R probably damaging Het
Fam114a1 A G 5: 65,188,695 (GRCm39) E475G probably damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fancm A T 12: 65,163,216 (GRCm39) Q1460L probably benign Het
Fancm C A 12: 65,163,223 (GRCm39) N1462K probably benign Het
Fgf14 T C 14: 124,913,940 (GRCm39) K64E probably benign Het
Fndc5 T C 4: 129,033,688 (GRCm39) V152A probably benign Het
Garem1 C G 18: 21,262,229 (GRCm39) V862L possibly damaging Het
Grin3b G A 10: 79,812,013 (GRCm39) G814R probably damaging Het
Hacd4 A G 4: 88,332,524 (GRCm39) S226P probably benign Het
Htt A G 5: 35,003,356 (GRCm39) Y1277C probably damaging Het
Igkv1-131 T A 6: 67,743,062 (GRCm39) D107V probably damaging Het
Iqcc T C 4: 129,510,639 (GRCm39) D292G probably damaging Het
Krtap13 C T 16: 88,548,384 (GRCm39) V35I probably damaging Het
Liat1 T C 11: 75,890,981 (GRCm39) S32P probably damaging Het
Lrrc59 G T 11: 94,525,809 (GRCm39) L132F possibly damaging Het
Mcub T C 3: 129,709,444 (GRCm39) S290G probably benign Het
Mettl4 A G 17: 95,042,802 (GRCm39) W345R probably damaging Het
Msgn1 G A 12: 11,258,526 (GRCm39) R142W probably damaging Het
Myo5c A G 9: 75,180,893 (GRCm39) I761V probably benign Het
Neb T A 2: 52,066,824 (GRCm39) K5879M probably damaging Het
Nkd2 C T 13: 73,970,905 (GRCm39) V226M probably damaging Het
Nt5el T A 13: 105,246,048 (GRCm39) V203E probably benign Het
Or51a24 T G 7: 103,733,771 (GRCm39) H172P possibly damaging Het
Or5b106 T A 19: 13,123,450 (GRCm39) H191L probably benign Het
Parp4 T A 14: 56,832,856 (GRCm39) L393* probably null Het
Pcdhgb6 G A 18: 37,876,608 (GRCm39) V439I probably benign Het
Pde1a T A 2: 79,959,136 (GRCm39) T15S probably benign Het
Pgr T A 9: 8,900,980 (GRCm39) I171N probably benign Het
Podxl T A 6: 31,503,180 (GRCm39) D296V probably benign Het
Polr3e A T 7: 120,539,690 (GRCm39) E479V possibly damaging Het
Prdm10 A T 9: 31,252,548 (GRCm39) H427L possibly damaging Het
Prl5a1 A T 13: 28,326,538 (GRCm39) K5* probably null Het
Prph A G 15: 98,955,004 (GRCm39) S325G probably damaging Het
Rabl2 C A 15: 89,468,555 (GRCm39) W49L probably benign Het
Rbbp8nl T A 2: 179,922,767 (GRCm39) I209F probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn7a T C 2: 66,531,110 (GRCm39) D589G probably benign Het
Sdr42e1 A T 8: 118,389,936 (GRCm39) L235Q possibly damaging Het
Serpina3a T C 12: 104,082,260 (GRCm39) M11T probably benign Het
Slc6a4 A T 11: 76,909,184 (GRCm39) K399* probably null Het
Slco4c1 T A 1: 96,767,008 (GRCm39) T337S probably damaging Het
Spc25 A T 2: 69,027,555 (GRCm39) F112L probably damaging Het
Swt1 A G 1: 151,283,365 (GRCm39) S331P probably benign Het
Tab1 A T 15: 80,039,971 (GRCm39) K264* probably null Het
Tagln3 T A 16: 45,544,701 (GRCm39) probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbck A G 3: 132,400,189 (GRCm39) D80G probably benign Het
Tcim A T 8: 24,928,911 (GRCm39) M1K probably null Het
Thap2 A G 10: 115,208,831 (GRCm39) S37P unknown Het
Tjp2 A T 19: 24,076,967 (GRCm39) probably null Het
Tln1 G A 4: 43,533,145 (GRCm39) S2390L probably damaging Het
Trpm5 T G 7: 142,626,919 (GRCm39) I1101L probably benign Het
Ttc3 T G 16: 94,243,554 (GRCm39) M831R probably benign Het
Tulp3 A G 6: 128,300,050 (GRCm39) C459R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Unc13b A T 4: 43,165,800 (GRCm39) T195S possibly damaging Het
Urgcp A G 11: 5,666,691 (GRCm39) L549P probably benign Het
Usp10 G T 8: 120,668,577 (GRCm39) A293S probably benign Het
Vmn2r23 A G 6: 123,681,359 (GRCm39) E89G possibly damaging Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Wif1 T C 10: 120,870,366 (GRCm39) I40T possibly damaging Het
Zmynd8 G A 2: 165,740,867 (GRCm39) R6C possibly damaging Het
Other mutations in Cntnap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Cntnap1 APN 11 101,075,918 (GRCm39) missense possibly damaging 0.63
IGL00715:Cntnap1 APN 11 101,074,031 (GRCm39) splice site probably benign
IGL00792:Cntnap1 APN 11 101,069,792 (GRCm39) missense probably benign 0.19
IGL01063:Cntnap1 APN 11 101,072,614 (GRCm39) missense probably benign 0.00
IGL01141:Cntnap1 APN 11 101,069,633 (GRCm39) splice site probably benign
IGL02184:Cntnap1 APN 11 101,069,191 (GRCm39) missense probably damaging 0.98
IGL02272:Cntnap1 APN 11 101,069,142 (GRCm39) missense probably damaging 0.99
IGL02281:Cntnap1 APN 11 101,073,080 (GRCm39) missense possibly damaging 0.86
IGL02437:Cntnap1 APN 11 101,077,677 (GRCm39) missense probably damaging 1.00
IGL02456:Cntnap1 APN 11 101,068,955 (GRCm39) missense probably benign 0.31
IGL02966:Cntnap1 APN 11 101,075,575 (GRCm39) missense probably damaging 1.00
IGL03126:Cntnap1 APN 11 101,067,127 (GRCm39) missense probably benign 0.00
IGL03294:Cntnap1 APN 11 101,072,508 (GRCm39) missense possibly damaging 0.94
Penny UTSW 11 101,077,590 (GRCm39) missense probably damaging 0.99
FR4304:Cntnap1 UTSW 11 101,080,415 (GRCm39) unclassified probably benign
FR4304:Cntnap1 UTSW 11 101,080,407 (GRCm39) unclassified probably benign
FR4342:Cntnap1 UTSW 11 101,080,401 (GRCm39) unclassified probably benign
FR4449:Cntnap1 UTSW 11 101,080,419 (GRCm39) unclassified probably benign
FR4449:Cntnap1 UTSW 11 101,080,395 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,419 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,405 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,398 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,420 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,401 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,392 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,407 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,406 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,416 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,395 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,402 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,408 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,414 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,395 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,398 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,411 (GRCm39) unclassified probably benign
PIT4354001:Cntnap1 UTSW 11 101,072,123 (GRCm39) missense probably damaging 1.00
PIT4466001:Cntnap1 UTSW 11 101,068,131 (GRCm39) missense probably benign
R0329:Cntnap1 UTSW 11 101,079,135 (GRCm39) missense probably damaging 1.00
R0556:Cntnap1 UTSW 11 101,074,822 (GRCm39) missense probably benign
R0586:Cntnap1 UTSW 11 101,077,840 (GRCm39) missense probably damaging 0.97
R0635:Cntnap1 UTSW 11 101,074,285 (GRCm39) missense probably benign 0.05
R0789:Cntnap1 UTSW 11 101,072,210 (GRCm39) splice site probably benign
R1016:Cntnap1 UTSW 11 101,068,333 (GRCm39) missense probably damaging 0.99
R1085:Cntnap1 UTSW 11 101,069,662 (GRCm39) missense probably benign 0.02
R1211:Cntnap1 UTSW 11 101,075,536 (GRCm39) missense probably damaging 1.00
R1466:Cntnap1 UTSW 11 101,071,186 (GRCm39) missense probably damaging 1.00
R1466:Cntnap1 UTSW 11 101,071,186 (GRCm39) missense probably damaging 1.00
R1584:Cntnap1 UTSW 11 101,071,186 (GRCm39) missense probably damaging 1.00
R1689:Cntnap1 UTSW 11 101,079,699 (GRCm39) splice site probably null
R1758:Cntnap1 UTSW 11 101,075,449 (GRCm39) missense probably damaging 1.00
R1779:Cntnap1 UTSW 11 101,077,337 (GRCm39) missense probably damaging 0.99
R1964:Cntnap1 UTSW 11 101,068,850 (GRCm39) nonsense probably null
R1966:Cntnap1 UTSW 11 101,071,212 (GRCm39) missense possibly damaging 0.89
R2070:Cntnap1 UTSW 11 101,073,805 (GRCm39) missense probably damaging 1.00
R2088:Cntnap1 UTSW 11 101,073,373 (GRCm39) missense probably damaging 1.00
R2118:Cntnap1 UTSW 11 101,079,483 (GRCm39) missense probably benign
R3795:Cntnap1 UTSW 11 101,077,590 (GRCm39) missense probably damaging 0.99
R4375:Cntnap1 UTSW 11 101,073,079 (GRCm39) missense probably damaging 1.00
R4779:Cntnap1 UTSW 11 101,068,898 (GRCm39) missense possibly damaging 0.91
R4832:Cntnap1 UTSW 11 101,073,845 (GRCm39) missense probably damaging 1.00
R4965:Cntnap1 UTSW 11 101,068,251 (GRCm39) missense possibly damaging 0.52
R4981:Cntnap1 UTSW 11 101,067,159 (GRCm39) splice site probably null
R5008:Cntnap1 UTSW 11 101,079,567 (GRCm39) nonsense probably null
R5399:Cntnap1 UTSW 11 101,074,142 (GRCm39) missense probably benign
R5507:Cntnap1 UTSW 11 101,074,303 (GRCm39) missense probably benign 0.42
R5560:Cntnap1 UTSW 11 101,073,261 (GRCm39) missense probably damaging 1.00
R5589:Cntnap1 UTSW 11 101,075,944 (GRCm39) missense probably benign
R6038:Cntnap1 UTSW 11 101,075,462 (GRCm39) missense probably benign 0.12
R6038:Cntnap1 UTSW 11 101,075,462 (GRCm39) missense probably benign 0.12
R6306:Cntnap1 UTSW 11 101,075,441 (GRCm39) missense probably damaging 1.00
R6392:Cntnap1 UTSW 11 101,077,472 (GRCm39) missense probably damaging 1.00
R6803:Cntnap1 UTSW 11 101,068,060 (GRCm39) missense possibly damaging 0.81
R6939:Cntnap1 UTSW 11 101,077,337 (GRCm39) missense probably damaging 0.99
R6944:Cntnap1 UTSW 11 101,073,730 (GRCm39) missense probably damaging 0.97
R7152:Cntnap1 UTSW 11 101,068,152 (GRCm39) missense probably damaging 1.00
R7297:Cntnap1 UTSW 11 101,079,460 (GRCm39) missense probably benign 0.01
R7347:Cntnap1 UTSW 11 101,076,094 (GRCm39) missense probably damaging 1.00
R7961:Cntnap1 UTSW 11 101,069,121 (GRCm39) missense probably benign
R7980:Cntnap1 UTSW 11 101,079,719 (GRCm39) missense probably benign
R8307:Cntnap1 UTSW 11 101,079,702 (GRCm39) missense possibly damaging 0.73
R8386:Cntnap1 UTSW 11 101,073,029 (GRCm39) missense probably damaging 1.00
R8403:Cntnap1 UTSW 11 101,068,416 (GRCm39) missense probably damaging 1.00
R8826:Cntnap1 UTSW 11 101,077,655 (GRCm39) missense probably damaging 0.99
R9103:Cntnap1 UTSW 11 101,072,094 (GRCm39) missense probably benign 0.06
R9279:Cntnap1 UTSW 11 101,072,121 (GRCm39) missense probably damaging 0.99
R9284:Cntnap1 UTSW 11 101,068,137 (GRCm39) missense probably benign
R9386:Cntnap1 UTSW 11 101,076,052 (GRCm39) missense probably damaging 1.00
R9689:Cntnap1 UTSW 11 101,072,178 (GRCm39) missense probably damaging 0.98
R9697:Cntnap1 UTSW 11 101,068,828 (GRCm39) missense possibly damaging 0.51
RF042:Cntnap1 UTSW 11 101,071,131 (GRCm39) critical splice acceptor site probably benign
RF048:Cntnap1 UTSW 11 101,080,389 (GRCm39) unclassified probably benign
RF048:Cntnap1 UTSW 11 101,071,131 (GRCm39) critical splice acceptor site probably benign
RF049:Cntnap1 UTSW 11 101,080,422 (GRCm39) unclassified probably benign
RF049:Cntnap1 UTSW 11 101,080,418 (GRCm39) unclassified probably benign
RF050:Cntnap1 UTSW 11 101,080,418 (GRCm39) unclassified probably benign
Z1176:Cntnap1 UTSW 11 101,073,724 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGGATCAGGAAGCTTTCTAGAG -3'
(R):5'- ATGAGGCTGCTGGAATGACC -3'

Sequencing Primer
(F):5'- ATCAGGAAGCTTTCTAGAGGTGGTAG -3'
(R):5'- GGAAGTTAGCTGTAAGGCTACACTAC -3'
Posted On 2018-02-28