Incidental Mutation 'R4981:Cntnap1'
ID 384855
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 042576-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # R4981 (G1)
Quality Score 121
Status Validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 101067159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000062759] [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably benign
Transcript: ENSMUST00000043397
SMART Domains Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 285 398 4.2e-21 PFAM
B41 400 664 2.91e-4 SMART
low complexity region 750 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062759
SMART Domains Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052

DomainStartEndE-ValueType
Pfam:7tm_1 58 310 4.8e-43 PFAM
low complexity region 313 329 N/A INTRINSIC
low complexity region 336 349 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103109
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (105/105)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,095,772 (GRCm39) probably null Het
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Amer2 T A 14: 60,617,176 (GRCm39) L331H probably damaging Het
Ang4 T G 14: 52,001,829 (GRCm39) K40Q probably benign Het
Aspm A C 1: 139,398,498 (GRCm39) probably null Het
Cacna1c A T 6: 118,728,432 (GRCm39) D337E probably benign Het
Ccdc124 T C 8: 71,321,429 (GRCm39) E134G probably benign Het
Ccdc7a G T 8: 129,711,464 (GRCm39) A312E probably benign Het
Cd209g A G 8: 4,186,845 (GRCm39) D130G probably damaging Het
Cd320 T C 17: 34,066,549 (GRCm39) S96P probably benign Het
Cenatac A T 9: 44,329,245 (GRCm39) F14Y probably damaging Het
Clu C G 14: 66,210,815 (GRCm39) Q134E probably damaging Het
Cnksr3 T A 10: 7,110,777 (GRCm39) H28L probably benign Het
Col22a1 C T 15: 71,732,915 (GRCm39) C546Y unknown Het
Col6a3 C T 1: 90,706,565 (GRCm39) V2183I unknown Het
Cop1 A G 1: 159,152,638 (GRCm39) probably benign Het
Cpne8 T C 15: 90,563,438 (GRCm39) I24V probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Dennd5b G A 6: 148,911,270 (GRCm39) L978F possibly damaging Het
Depdc1a G T 3: 159,229,550 (GRCm39) M627I probably benign Het
Dnah3 A T 7: 119,555,424 (GRCm39) N2721K probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A G 18: 20,541,925 (GRCm39) T811A possibly damaging Het
Emilin1 C G 5: 31,076,695 (GRCm39) Q847E probably benign Het
Epha3 A T 16: 63,472,775 (GRCm39) V370D probably benign Het
Epha5 T A 5: 84,298,342 (GRCm39) T406S probably damaging Het
Ephb1 A T 9: 101,918,159 (GRCm39) I450N probably benign Het
Ephb2 A G 4: 136,423,321 (GRCm39) M319T probably benign Het
Eps15l1 A G 8: 73,132,833 (GRCm39) probably null Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fgd5 T C 6: 91,966,281 (GRCm39) I838T probably damaging Het
Fnbp4 T C 2: 90,596,174 (GRCm39) F582L probably damaging Het
Frs3 T C 17: 48,000,187 (GRCm39) probably null Het
Fscb C T 12: 64,520,393 (GRCm39) V358I possibly damaging Het
Fus G T 7: 127,566,727 (GRCm39) probably benign Het
Fyb1 CCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT 15: 6,676,092 (GRCm39) probably benign Het
Glra3 A T 8: 56,444,270 (GRCm39) I77F possibly damaging Het
Gm4454 C T 7: 38,269,860 (GRCm39) noncoding transcript Het
Gng3 G A 19: 8,815,625 (GRCm39) A37V possibly damaging Het
Grin3b T A 10: 79,812,191 (GRCm39) probably benign Het
Herpud1 A G 8: 95,118,422 (GRCm39) Y41C probably damaging Het
Igkv4-92 G C 6: 68,732,028 (GRCm39) S115R possibly damaging Het
Ikbip T A 10: 90,931,848 (GRCm39) I164N probably benign Het
Kank1 A G 19: 25,388,759 (GRCm39) T783A probably benign Het
Kcnq3 A T 15: 65,903,254 (GRCm39) V152E possibly damaging Het
Kif23 C T 9: 61,839,153 (GRCm39) R314H probably damaging Het
Klc4 T C 17: 46,955,287 (GRCm39) H49R probably benign Het
Klhl20 A T 1: 160,930,575 (GRCm39) I309N possibly damaging Het
Lgals4 A G 7: 28,540,701 (GRCm39) Y268C probably damaging Het
Lingo4 A G 3: 94,306,761 (GRCm39) Q13R probably benign Het
Lmtk2 C A 5: 144,113,265 (GRCm39) F1328L probably damaging Het
Mapk14 A G 17: 28,960,765 (GRCm39) R179G probably damaging Het
Mbd3l1 A T 9: 18,396,201 (GRCm39) T109S probably benign Het
Megf6 T C 4: 154,351,907 (GRCm39) F1169L possibly damaging Het
Mrgpra1 A T 7: 46,984,959 (GRCm39) V240D probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myh1 T C 11: 67,115,300 (GRCm39) probably benign Het
Nav3 T C 10: 109,716,553 (GRCm39) I172V probably benign Het
Nemp1 T A 10: 127,529,399 (GRCm39) L178Q probably damaging Het
Numa1 T C 7: 101,641,881 (GRCm39) S110P probably damaging Het
Or4a75 A G 2: 89,447,769 (GRCm39) Y256H probably damaging Het
Or4c117 T C 2: 88,955,845 (GRCm39) T77A probably benign Het
Or51k1 A G 7: 103,661,312 (GRCm39) I199T probably damaging Het
Or5ak25 A G 2: 85,268,813 (GRCm39) S230P probably damaging Het
Or8k30 T C 2: 86,339,171 (GRCm39) Y123H probably damaging Het
Or9q1 A T 19: 13,805,458 (GRCm39) F101I probably damaging Het
Pard3b T G 1: 62,383,219 (GRCm39) M771R probably damaging Het
Phkg2 A G 7: 127,181,551 (GRCm39) I245V probably damaging Het
Pik3cg A T 12: 32,254,103 (GRCm39) M628K possibly damaging Het
Poln A G 5: 34,264,429 (GRCm39) probably null Het
Ppip5k1 A T 2: 121,142,871 (GRCm39) S1172T probably damaging Het
Prdm5 A T 6: 65,847,446 (GRCm39) H363L probably damaging Het
Prkdc A G 16: 15,496,173 (GRCm39) Y788C probably damaging Het
Prrc2c T A 1: 162,520,116 (GRCm39) R2076S probably damaging Het
Sh2d2a A G 3: 87,756,728 (GRCm39) Y191C probably damaging Het
Slc20a1 T C 2: 129,041,919 (GRCm39) I94T probably damaging Het
Sptbn2 T C 19: 4,801,686 (GRCm39) V2366A probably benign Het
Stab2 T A 10: 86,796,087 (GRCm39) M387L probably benign Het
Syne2 T G 12: 75,987,993 (GRCm39) M1718R probably damaging Het
Synm G T 7: 67,384,235 (GRCm39) F700L probably benign Het
Tmco4 T C 4: 138,718,012 (GRCm39) F51L possibly damaging Het
Tmem104 C A 11: 115,095,962 (GRCm39) P168T probably damaging Het
Tril G T 6: 53,795,905 (GRCm39) T439K probably benign Het
Trim2 A G 3: 84,085,042 (GRCm39) L559P probably damaging Het
Trim3 A G 7: 105,268,335 (GRCm39) V149A probably damaging Het
Triml2 A G 8: 43,640,717 (GRCm39) N191S probably benign Het
Usp4 A G 9: 108,258,617 (GRCm39) D16G probably benign Het
Vmn2r58 G A 7: 41,486,885 (GRCm39) T670I probably damaging Het
Vmn2r97 G T 17: 19,160,436 (GRCm39) G524* probably null Het
Xpo5 C A 17: 46,531,743 (GRCm39) F426L probably damaging Het
Zfp800 A G 6: 28,247,190 (GRCm39) L84S probably damaging Het
Zranb2 T G 3: 157,252,378 (GRCm39) probably benign Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
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'- AAAAGCTTTGGTCAGCCGTG -3'
(R):5'- CTGGTTCCTCAGATCAGAGATC -3'

Sequencing Primer
(F):5'- TTTGGTCAGCCGTGAACCC -3'
(R):5'- GGTTCCTCAGATCAGAGATCAGCAC -3'
Posted On 2016-05-10