Incidental Mutation 'R4832:Cntnap1'
ID 372923
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 042448-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R4832 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101073845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 665 (N665K)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably damaging
Transcript: ENSMUST00000103109
AA Change: N665K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: N665K

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 0.1708 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (106/108)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,597 (GRCm39) V186A possibly damaging Het
1700088E04Rik A T 15: 79,019,409 (GRCm39) M198K probably damaging Het
4933402J07Rik A G 8: 88,294,601 (GRCm39) K84R probably null Het
Aamdc T C 7: 97,199,773 (GRCm39) probably null Het
Abcc9 A G 6: 142,617,282 (GRCm39) V594A probably damaging Het
Adamts13 G A 2: 26,879,414 (GRCm39) D656N probably benign Het
Adcy10 G T 1: 165,334,213 (GRCm39) C122F probably damaging Het
Adi1 A G 12: 28,725,252 (GRCm39) M1V probably null Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Akt1 G T 12: 112,623,521 (GRCm39) P313Q probably damaging Het
Ano3 A T 2: 110,498,067 (GRCm39) M758K probably damaging Het
Baz2a T A 10: 127,958,999 (GRCm39) N1168K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bcap29 A G 12: 31,674,202 (GRCm39) I131T probably benign Het
Brd10 G T 19: 29,694,616 (GRCm39) L1626I possibly damaging Het
Btnl6 T C 17: 34,732,966 (GRCm39) D299G possibly damaging Het
Ccdc66 A G 14: 27,222,524 (GRCm39) I73T probably benign Het
Cdh2 A G 18: 16,760,754 (GRCm39) S538P probably benign Het
Cfap54 T A 10: 92,803,390 (GRCm39) M1551L probably benign Het
Chd2 G A 7: 73,151,873 (GRCm39) A243V probably damaging Het
Colgalt2 C T 1: 152,360,749 (GRCm39) T262I possibly damaging Het
Cyp24a1 T C 2: 170,338,098 (GRCm39) I149V probably benign Het
Cyp2a5 T A 7: 26,534,970 (GRCm39) probably null Het
Dab2 A G 15: 6,366,080 (GRCm39) probably null Het
Dnah17 T A 11: 117,917,606 (GRCm39) I4158F probably damaging Het
Dnm2 G A 9: 21,385,975 (GRCm39) probably null Het
Dpp7 A T 2: 25,242,398 (GRCm39) probably benign Het
Epha6 T A 16: 59,780,776 (GRCm39) I642F probably damaging Het
Erbb4 T C 1: 68,369,397 (GRCm39) S415G probably benign Het
Fancd2 A G 6: 113,530,683 (GRCm39) T439A probably benign Het
Fat1 G A 8: 45,466,102 (GRCm39) V1431M possibly damaging Het
Fhod3 G A 18: 25,223,305 (GRCm39) A884T probably benign Het
Fsip2 A G 2: 82,820,515 (GRCm39) D5416G possibly damaging Het
Gabarap C T 11: 69,882,678 (GRCm39) probably benign Het
Garre1 T C 7: 33,938,333 (GRCm39) probably benign Het
Gm11544 C T 11: 94,736,532 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,964 (GRCm39) K304Q probably benign Het
Gpr141b T A 13: 19,913,840 (GRCm39) noncoding transcript Het
Gramd4 C T 15: 86,019,057 (GRCm39) A575V probably benign Het
Gtpbp10 G A 5: 5,589,295 (GRCm39) A274V possibly damaging Het
Gzmb A G 14: 56,497,679 (GRCm39) I187T probably damaging Het
H2-M10.2 G A 17: 36,595,219 (GRCm39) T315I probably damaging Het
Haus5 A T 7: 30,356,452 (GRCm39) F524I probably damaging Het
Herc1 A G 9: 66,403,253 (GRCm39) S4391G probably benign Het
Herc2 T A 7: 55,748,165 (GRCm39) L511* probably null Het
Htt T A 5: 34,982,184 (GRCm39) C923S probably benign Het
Idua T C 5: 108,817,247 (GRCm39) S7P probably benign Het
Ighv16-1 A T 12: 114,032,466 (GRCm39) L112Q probably damaging Het
Igkv1-110 A G 6: 68,248,185 (GRCm39) K98R probably benign Het
Kif15 G A 9: 122,831,191 (GRCm39) probably null Het
Leng9 C A 7: 4,152,029 (GRCm39) G216W probably damaging Het
Lrpprc A G 17: 85,014,584 (GRCm39) L1306S probably benign Het
Lztfl1 C A 9: 123,544,454 (GRCm39) E20D possibly damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Map3k4 C T 17: 12,490,667 (GRCm39) E255K probably damaging Het
Megf9 G A 4: 70,452,665 (GRCm39) T132M probably damaging Het
Mob4 T C 1: 55,184,411 (GRCm39) probably benign Het
Mttp G A 3: 137,821,811 (GRCm39) A252V probably benign Het
Mxi1 A G 19: 53,358,745 (GRCm39) D226G probably damaging Het
Myh14 A G 7: 44,274,566 (GRCm39) S1249P probably benign Het
Mylk G A 16: 34,742,737 (GRCm39) G1083D probably benign Het
Mylk4 T G 13: 32,905,960 (GRCm39) I408L probably benign Het
Nbas A G 12: 13,533,740 (GRCm39) S1792G probably benign Het
Nelfb A G 2: 25,099,981 (GRCm39) V212A probably damaging Het
Nisch T C 14: 30,899,587 (GRCm39) probably benign Het
Nqo1 C G 8: 108,115,477 (GRCm39) D267H probably benign Het
Or8u10 C A 2: 85,915,190 (GRCm39) L310F probably benign Het
Pcid2 T A 8: 13,135,425 (GRCm39) I195F probably damaging Het
Pcnx2 A T 8: 126,478,927 (GRCm39) M2107K probably damaging Het
Pgd A T 4: 149,241,048 (GRCm39) probably benign Het
Prim2 T C 1: 33,503,145 (GRCm39) M430V probably benign Het
Prkaa1 A G 15: 5,190,101 (GRCm39) T40A probably damaging Het
Ptges T C 2: 30,793,232 (GRCm39) probably benign Het
Ptprn T C 1: 75,234,909 (GRCm39) E226G probably benign Het
Rab14 A G 2: 35,079,978 (GRCm39) F55S probably damaging Het
Ralgps2 A T 1: 156,684,637 (GRCm39) probably benign Het
Rgs11 C T 17: 26,426,542 (GRCm39) H258Y probably benign Het
Rhpn2 T C 7: 35,075,774 (GRCm39) probably null Het
Rprd2 A T 3: 95,681,483 (GRCm39) V452E probably damaging Het
Scube3 C A 17: 28,384,989 (GRCm39) H646Q probably damaging Het
Selp A T 1: 163,953,909 (GRCm39) I70F probably damaging Het
Septin2 A G 1: 93,426,849 (GRCm39) I153V probably damaging Het
Sh3rf3 G A 10: 58,649,905 (GRCm39) S170N probably benign Het
Skint4 A T 4: 112,000,963 (GRCm39) I353F possibly damaging Het
Slc16a12 A G 19: 34,657,780 (GRCm39) I41T possibly damaging Het
Snai2 T C 16: 14,524,881 (GRCm39) F129S probably damaging Het
Top3b C T 16: 16,708,526 (GRCm39) R629* probably null Het
Trim17 T A 11: 58,862,270 (GRCm39) V434E probably damaging Het
Ttn G A 2: 76,615,327 (GRCm39) P15051L probably damaging Het
Uggt2 A T 14: 119,239,259 (GRCm39) I1391N probably damaging Het
Usp8 A T 2: 126,596,958 (GRCm39) M923L probably damaging Het
Vmn1r176 T C 7: 23,534,463 (GRCm39) H230R possibly damaging Het
Vmn1r217 C A 13: 23,298,159 (GRCm39) D248Y probably damaging Het
Vmn2r14 A T 5: 109,363,976 (GRCm39) C647S probably damaging Het
Vwa5b1 A G 4: 138,332,851 (GRCm39) I237T probably damaging Het
Zan T A 5: 137,391,423 (GRCm39) D4687V unknown Het
Zfp273 T C 13: 67,973,484 (GRCm39) V204A probably benign Het
Zfp956 T G 6: 47,928,987 (GRCm39) probably benign 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
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'- GACAGAATGTTCATGTCCAGC -3'
(R):5'- CCAAAAGCTGTAGGGGTAGC -3'

Sequencing Primer
(F):5'- GAATGTTCATGTCCAGCCAAAG -3'
(R):5'- TAGCCTCCTGGGGAAGACAC -3'
Posted On 2016-03-01