Incidental Mutation 'R1758:Cntnap1'
ID 195106
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 039790-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # R1758 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101075449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 876 (W876R)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably damaging
Transcript: ENSMUST00000103109
AA Change: W876R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: W876R

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,612,237 (GRCm39) R38G possibly damaging Het
4930590J08Rik T C 6: 91,892,203 (GRCm39) V155A possibly damaging Het
Adgb A G 10: 10,302,349 (GRCm39) S406P probably damaging Het
Adgrb2 C A 4: 129,905,668 (GRCm39) T893N probably damaging Het
Adgrf5 T C 17: 43,735,484 (GRCm39) probably null Het
Alms1 T A 6: 85,605,487 (GRCm39) I2379N probably damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf4 C T 15: 80,141,414 (GRCm39) T268I probably benign Het
Cblif G A 19: 11,735,179 (GRCm39) M266I probably damaging Het
Ccdc154 T C 17: 25,382,156 (GRCm39) L25P probably damaging Het
Ccdc9 G A 7: 16,010,161 (GRCm39) S381F probably damaging Het
Cdk17 C T 10: 93,044,112 (GRCm39) T17M probably damaging Het
Cep128 T C 12: 91,314,352 (GRCm39) N142S probably benign Het
Cep78 A G 19: 15,936,900 (GRCm39) I602T probably damaging Het
Clasp1 C T 1: 118,475,755 (GRCm39) T935I probably damaging Het
Cnr1 T C 4: 33,945,000 (GRCm39) S463P probably damaging Het
Cntnap5c A G 17: 58,349,545 (GRCm39) D286G probably damaging Het
Copa C T 1: 171,931,711 (GRCm39) R321C probably damaging Het
Cspg4b A G 13: 113,505,266 (GRCm39) T2132A possibly damaging Het
Ctla2a T G 13: 61,083,256 (GRCm39) E98A probably damaging Het
Cux1 A T 5: 136,421,176 (GRCm39) D183E probably damaging Het
Cxcl15 A C 5: 90,949,323 (GRCm39) T163P unknown Het
Ddias T C 7: 92,508,571 (GRCm39) N448S probably benign Het
Dhx8 T C 11: 101,657,564 (GRCm39) F1152S probably damaging Het
Dnah12 C A 14: 26,488,071 (GRCm39) Q992K probably benign Het
Eno3 G T 11: 70,552,251 (GRCm39) W301L possibly damaging Het
Faap100 A T 11: 120,268,059 (GRCm39) V238E probably damaging Het
Fgf4 A G 7: 144,416,049 (GRCm39) S137G probably benign Het
Fhod3 A C 18: 25,253,367 (GRCm39) D1439A possibly damaging Het
Frem2 A G 3: 53,560,778 (GRCm39) L1243P probably damaging Het
Gkn3 T G 6: 87,365,817 (GRCm39) M1L probably benign Het
Gm10250 T C 15: 5,150,509 (GRCm39) probably benign Het
Gm12185 T C 11: 48,798,859 (GRCm39) T545A possibly damaging Het
Gm14226 T A 2: 154,867,378 (GRCm39) L445H probably damaging Het
Gm3404 A T 5: 146,463,036 (GRCm39) M73L probably benign Het
Gm973 G T 1: 59,673,169 (GRCm39) R976S unknown Het
Gpr146 A T 5: 139,379,137 (GRCm39) H313L probably benign Het
Gys2 T A 6: 142,418,432 (GRCm39) E32D probably damaging Het
Igsf10 G A 3: 59,236,617 (GRCm39) T1188I probably benign Het
Igsf9b A T 9: 27,245,548 (GRCm39) T1172S possibly damaging Het
Itga8 T A 2: 12,270,144 (GRCm39) N114I possibly damaging Het
Itsn2 T A 12: 4,708,160 (GRCm39) V795E possibly damaging Het
Kdm1b T A 13: 47,214,244 (GRCm39) S197T probably benign Het
Kif5c G A 2: 49,613,145 (GRCm39) R161Q probably benign Het
Krt33b T C 11: 99,916,361 (GRCm39) Y232C probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1 A T 10: 127,424,453 (GRCm39) N744K possibly damaging Het
Mcm10 C A 2: 5,008,861 (GRCm39) L369F probably damaging Het
Muc5ac T A 7: 141,355,268 (GRCm39) I1018N possibly damaging Het
Myom2 T C 8: 15,115,795 (GRCm39) L70P probably benign Het
Myt1l T A 12: 29,877,241 (GRCm39) N297K unknown Het
Ncr1 C T 7: 4,343,807 (GRCm39) T98I probably benign Het
Nek3 T C 8: 22,650,278 (GRCm39) E78G probably damaging Het
Nfatc3 T A 8: 106,825,768 (GRCm39) N606K probably damaging Het
Nup107 T G 10: 117,597,248 (GRCm39) D669A probably damaging Het
Or10ag52 A T 2: 87,043,758 (GRCm39) Q174L probably benign Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Or4c3 T C 2: 89,851,673 (GRCm39) T246A probably benign Het
Or8b55 A T 9: 38,726,871 (GRCm39) H24L probably benign Het
Pcnx1 T C 12: 82,030,258 (GRCm39) V1711A probably benign Het
Pik3c3 A G 18: 30,410,063 (GRCm39) D99G probably damaging Het
Pinx1 C A 14: 64,157,024 (GRCm39) T317K probably benign Het
Ppargc1b G T 18: 61,431,857 (GRCm39) probably null Het
Pradc1 T A 6: 85,424,203 (GRCm39) I119F possibly damaging Het
Psat1 G T 19: 15,892,243 (GRCm39) T242K probably damaging Het
Psma6 G A 12: 55,454,317 (GRCm39) C28Y probably damaging Het
Pyurf A T 6: 57,668,817 (GRCm39) C58* probably null Het
Rab3gap2 C A 1: 185,016,081 (GRCm39) A1331E probably benign Het
Rnase4 T C 14: 51,342,722 (GRCm39) *149Q probably null Het
Ruvbl2 T C 7: 45,074,586 (GRCm39) K184R probably benign Het
Scn7a T G 2: 66,510,527 (GRCm39) M1292L probably benign Het
Scn7a A T 2: 66,531,231 (GRCm39) Y549N probably damaging Het
Selp A G 1: 163,959,854 (GRCm39) D370G possibly damaging Het
Slc22a15 G A 3: 101,767,769 (GRCm39) Q386* probably null Het
Slc22a29 A G 19: 8,195,126 (GRCm39) probably null Het
Slc26a7 A C 4: 14,548,491 (GRCm39) I266S possibly damaging Het
Smpd4 T C 16: 17,443,872 (GRCm39) S112P probably damaging Het
Smpd4 T A 16: 17,458,744 (GRCm39) L165Q probably damaging Het
Snx33 A G 9: 56,833,982 (GRCm39) I29T probably benign Het
Spen G A 4: 141,203,686 (GRCm39) P1647L unknown Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Swsap1 C T 9: 21,867,280 (GRCm39) R75* probably null Het
Tesl1 A G X: 23,772,990 (GRCm39) I164V probably benign Het
Tmem210 C T 2: 25,178,435 (GRCm39) T32I probably damaging Het
Tnn C T 1: 159,975,154 (GRCm39) R91H possibly damaging Het
Tnni1 G A 1: 135,736,420 (GRCm39) R94H probably damaging Het
Tnrc6c T A 11: 117,651,556 (GRCm39) V1693D probably benign Het
Trip4 G A 9: 65,782,259 (GRCm39) Q158* probably null Het
Ttc39b T C 4: 83,155,586 (GRCm39) E474G probably damaging Het
Usp50 C A 2: 126,617,782 (GRCm39) C221F probably damaging Het
Vmn1r171 T C 7: 23,331,781 (GRCm39) I2T probably benign Het
Wdr62 T A 7: 29,967,328 (GRCm39) I309F probably damaging Het
Xdh A T 17: 74,217,204 (GRCm39) V688E probably damaging Het
Zfyve26 A G 12: 79,285,718 (GRCm39) L2353P probably damaging Het
Zgpat C A 2: 181,020,633 (GRCm39) R269S probably 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
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
R6242:Cntnap1 UTSW 11 101,073,364 (GRCm39) missense probably damaging 1.00
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'- CCCCATCAGGTGAGGAGATTGTATTGG -3'
(R):5'- GCTCACATGGGCATAGAGGATTAGAAC -3'

Sequencing Primer
(F):5'- ATTGTATTGGGCAAGAATACTGTGAG -3'
(R):5'- GCTTCCTGGAAAAATGGCCC -3'
Posted On 2014-05-23