Incidental Mutation 'R2118:Cntnap1'
ID 231222
Institutional Source Beutler Lab
Gene Symbol Cntnap1
Ensembl Gene ENSMUSG00000017167
Gene Name contactin associated protein-like 1
Synonyms Nrxn4, Caspr, NCP1, p190, paranodin, shm
MMRRC Submission 040122-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # R2118 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101170523-101190724 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101188657 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1240 (M1240I)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109] [ENSMUST00000107284] [ENSMUST00000107285]
AlphaFold O54991
Predicted Effect probably benign
Transcript: ENSMUST00000103109
AA Change: M1240I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: M1240I

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 probably benign
Transcript: ENSMUST00000107284
SMART Domains Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 4.5e-21 PFAM
SANT 135 263 3.86e1 SMART
low complexity region 369 381 N/A INTRINSIC
SANT 430 478 3.03e-4 SMART
CXC 556 593 8.14e-2 SMART
SET 613 734 7.34e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107285
SMART Domains Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 42 71 5.1e-20 PFAM
SANT 138 266 3.86e1 SMART
low complexity region 372 384 N/A INTRINSIC
SANT 433 481 3.03e-4 SMART
CXC 559 596 8.14e-2 SMART
SET 616 737 7.34e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134622
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (90/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T C 11: 83,440,364 (GRCm38) S31P possibly damaging Het
4933430I17Rik T A 4: 62,538,872 (GRCm38) L143M possibly damaging Het
Abca13 T C 11: 9,309,013 (GRCm38) probably benign Het
Abcg5 T A 17: 84,671,147 (GRCm38) E294D probably benign Het
Abi3bp T C 16: 56,477,864 (GRCm38) probably benign Het
Adamts8 T C 9: 30,943,063 (GRCm38) F76S probably damaging Het
Agpat3 T C 10: 78,278,084 (GRCm38) R257G probably damaging Het
Ahctf1 C A 1: 179,769,452 (GRCm38) R43L probably damaging Het
AI593442 T C 9: 52,677,693 (GRCm38) T195A probably benign Het
Aipl1 A T 11: 72,029,369 (GRCm38) L291Q possibly damaging Het
Ambn T A 5: 88,460,758 (GRCm38) probably benign Het
Arap2 G A 5: 62,706,685 (GRCm38) T532I probably damaging Het
Arg1 T C 10: 24,920,723 (GRCm38) N69D possibly damaging Het
Arhgef10 A G 8: 14,934,820 (GRCm38) D200G probably damaging Het
Arhgef38 T C 3: 133,160,753 (GRCm38) K208E probably benign Het
Asb4 A T 6: 5,390,687 (GRCm38) T27S probably benign Het
Ash1l C G 3: 88,985,295 (GRCm38) Q1494E possibly damaging Het
Car12 T C 9: 66,713,892 (GRCm38) V15A probably benign Het
Cdc20b A G 13: 113,078,698 (GRCm38) I267V probably benign Het
Cdh1 A G 8: 106,664,210 (GRCm38) I653V probably benign Het
Cenpe T A 3: 135,246,884 (GRCm38) M1445K possibly damaging Het
Cfap43 T C 19: 47,770,438 (GRCm38) E932G probably damaging Het
Cfhr1 G C 1: 139,550,904 (GRCm38) Q243E probably benign Het
Cnih2 C A 19: 5,098,248 (GRCm38) A6S possibly damaging Het
Cntrl T C 2: 35,161,965 (GRCm38) S1050P probably benign Het
Cyp2a12 A G 7: 27,036,646 (GRCm38) *493W probably null Het
Dbx2 A C 15: 95,624,800 (GRCm38) L342R probably damaging Het
Dmd G C X: 84,312,483 (GRCm38) A2257P probably benign Het
Dnajb2 T C 1: 75,237,477 (GRCm38) W30R probably damaging Het
Ecel1 A G 1: 87,148,275 (GRCm38) S727P probably damaging Het
Ednrb T A 14: 103,821,768 (GRCm38) D274V probably benign Het
Fam78b G A 1: 167,078,709 (GRCm38) V146M probably damaging Het
Fancd2 A G 6: 113,560,074 (GRCm38) probably benign Het
Fbxw14 T C 9: 109,274,624 (GRCm38) probably benign Het
Gimap4 G T 6: 48,690,971 (GRCm38) C92F probably benign Het
Gm5828 A G 1: 16,769,975 (GRCm38) noncoding transcript Het
Gnpat T C 8: 124,876,941 (GRCm38) V186A probably damaging Het
Gnptab T C 10: 88,436,398 (GRCm38) S967P probably benign Het
Ikbkb T C 8: 22,667,217 (GRCm38) probably benign Het
Il1rap A T 16: 26,710,565 (GRCm38) H379L probably damaging Het
Ints12 T C 3: 133,109,160 (GRCm38) V376A probably damaging Het
Kalrn C T 16: 34,332,230 (GRCm38) S309N possibly damaging Het
Kel T A 6: 41,689,300 (GRCm38) I471L probably benign Het
Klhl25 T C 7: 75,866,732 (GRCm38) V462A probably damaging Het
Ksr1 A T 11: 79,045,193 (GRCm38) M77K probably benign Het
Leo1 T A 9: 75,445,812 (GRCm38) N212K probably damaging Het
Ltbp1 T A 17: 75,310,159 (GRCm38) V1031E possibly damaging Het
Ltbr A G 6: 125,309,477 (GRCm38) S249P probably benign Het
Mast4 A G 13: 102,754,205 (GRCm38) V855A probably damaging Het
Mdga2 T A 12: 66,868,752 (GRCm38) E43V probably damaging Het
Mmaa A T 8: 79,267,959 (GRCm38) L406* probably null Het
Nlrp12 A T 7: 3,241,449 (GRCm38) N144K probably damaging Het
Nlrp6 T C 7: 140,926,444 (GRCm38) V766A probably benign Het
Olfr1314 C A 2: 112,092,330 (GRCm38) V124L probably benign Het
Olfr186 A G 16: 59,027,815 (GRCm38) F31L possibly damaging Het
Pabpc4l T C 3: 46,446,841 (GRCm38) T123A probably benign Het
Pappa2 T C 1: 158,857,266 (GRCm38) T768A probably damaging Het
Pde6d A G 1: 86,545,802 (GRCm38) F91L probably benign Het
Ppp1r13l A G 7: 19,371,421 (GRCm38) M373V possibly damaging Het
Prss37 G A 6: 40,515,360 (GRCm38) R186* probably null Het
Psg16 C A 7: 17,090,623 (GRCm38) H111N probably benign Het
Psg20 T A 7: 18,681,022 (GRCm38) Y316F probably benign Het
Psmd1 T A 1: 86,078,700 (GRCm38) S263T possibly damaging Het
Rai14 A G 15: 10,575,166 (GRCm38) F569L probably benign Het
Rbpms2 T A 9: 65,650,947 (GRCm38) D116E probably damaging Het
Rgs20 A G 1: 4,916,890 (GRCm38) probably benign Het
Rnf114 T C 2: 167,510,883 (GRCm38) L101P probably damaging Het
Rnf168 T G 16: 32,278,218 (GRCm38) L37R probably damaging Het
RP23-114B10.6 A C 8: 69,372,290 (GRCm38) noncoding transcript Het
Rpe T C 1: 66,715,228 (GRCm38) M153T probably damaging Het
Sap18 T A 14: 57,798,554 (GRCm38) S66T probably damaging Het
Slc2a13 A G 15: 91,516,476 (GRCm38) V181A probably damaging Het
Soga1 T C 2: 157,033,325 (GRCm38) E835G probably damaging Het
Spag17 A G 3: 100,049,240 (GRCm38) E884G possibly damaging Het
Sycn T C 7: 28,541,288 (GRCm38) S127P probably damaging Het
Tas2r106 A T 6: 131,678,354 (GRCm38) L178H probably damaging Het
Tas2r117 T A 6: 132,803,166 (GRCm38) I89K probably damaging Het
Tep1 C A 14: 50,855,572 (GRCm38) probably null Het
Tex14 T C 11: 87,519,743 (GRCm38) probably benign Het
Tll1 T C 8: 64,085,557 (GRCm38) E351G probably benign Het
Tmem44 T A 16: 30,547,444 (GRCm38) K55* probably null Het
Trak1 T A 9: 121,472,997 (GRCm38) *940R probably null Het
Vmn1r200 C T 13: 22,395,183 (GRCm38) T43I probably damaging Het
Wars2 T C 3: 99,216,567 (GRCm38) V248A probably benign Het
Wfdc6b C T 2: 164,617,443 (GRCm38) R142C probably benign Het
Zfp729a A T 13: 67,621,494 (GRCm38) probably null Het
Zfp759 C A 13: 67,139,514 (GRCm38) probably benign Het
Other mutations in Cntnap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Cntnap1 APN 11 101,185,092 (GRCm38) missense possibly damaging 0.63
IGL00715:Cntnap1 APN 11 101,183,205 (GRCm38) splice site probably benign
IGL00792:Cntnap1 APN 11 101,178,966 (GRCm38) missense probably benign 0.19
IGL01063:Cntnap1 APN 11 101,181,788 (GRCm38) missense probably benign 0.00
IGL01141:Cntnap1 APN 11 101,178,807 (GRCm38) splice site probably benign
IGL02184:Cntnap1 APN 11 101,178,365 (GRCm38) missense probably damaging 0.98
IGL02272:Cntnap1 APN 11 101,178,316 (GRCm38) missense probably damaging 0.99
IGL02281:Cntnap1 APN 11 101,182,254 (GRCm38) missense possibly damaging 0.86
IGL02437:Cntnap1 APN 11 101,186,851 (GRCm38) missense probably damaging 1.00
IGL02456:Cntnap1 APN 11 101,178,129 (GRCm38) missense probably benign 0.31
IGL02966:Cntnap1 APN 11 101,184,749 (GRCm38) missense probably damaging 1.00
IGL03126:Cntnap1 APN 11 101,176,301 (GRCm38) missense probably benign 0.00
IGL03294:Cntnap1 APN 11 101,181,682 (GRCm38) missense possibly damaging 0.94
Penny UTSW 11 101,186,764 (GRCm38) missense probably damaging 0.99
FR4304:Cntnap1 UTSW 11 101,189,589 (GRCm38) unclassified probably benign
FR4304:Cntnap1 UTSW 11 101,189,581 (GRCm38) unclassified probably benign
FR4342:Cntnap1 UTSW 11 101,189,575 (GRCm38) unclassified probably benign
FR4449:Cntnap1 UTSW 11 101,189,593 (GRCm38) unclassified probably benign
FR4449:Cntnap1 UTSW 11 101,189,569 (GRCm38) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,189,593 (GRCm38) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,189,579 (GRCm38) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,189,572 (GRCm38) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,189,594 (GRCm38) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,189,575 (GRCm38) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,189,566 (GRCm38) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,189,581 (GRCm38) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,189,580 (GRCm38) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,189,590 (GRCm38) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,189,569 (GRCm38) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,189,576 (GRCm38) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,189,582 (GRCm38) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,189,588 (GRCm38) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,189,569 (GRCm38) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,189,572 (GRCm38) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,189,585 (GRCm38) unclassified probably benign
PIT4354001:Cntnap1 UTSW 11 101,181,297 (GRCm38) missense probably damaging 1.00
PIT4466001:Cntnap1 UTSW 11 101,177,305 (GRCm38) missense probably benign
R0329:Cntnap1 UTSW 11 101,188,309 (GRCm38) missense probably damaging 1.00
R0556:Cntnap1 UTSW 11 101,183,996 (GRCm38) missense probably benign
R0586:Cntnap1 UTSW 11 101,187,014 (GRCm38) missense probably damaging 0.97
R0635:Cntnap1 UTSW 11 101,183,459 (GRCm38) missense probably benign 0.05
R0789:Cntnap1 UTSW 11 101,181,384 (GRCm38) splice site probably benign
R1016:Cntnap1 UTSW 11 101,177,507 (GRCm38) missense probably damaging 0.99
R1085:Cntnap1 UTSW 11 101,178,836 (GRCm38) missense probably benign 0.02
R1211:Cntnap1 UTSW 11 101,184,710 (GRCm38) missense probably damaging 1.00
R1466:Cntnap1 UTSW 11 101,180,360 (GRCm38) missense probably damaging 1.00
R1466:Cntnap1 UTSW 11 101,180,360 (GRCm38) missense probably damaging 1.00
R1584:Cntnap1 UTSW 11 101,180,360 (GRCm38) missense probably damaging 1.00
R1689:Cntnap1 UTSW 11 101,188,873 (GRCm38) splice site probably null
R1758:Cntnap1 UTSW 11 101,184,623 (GRCm38) missense probably damaging 1.00
R1779:Cntnap1 UTSW 11 101,186,511 (GRCm38) missense probably damaging 0.99
R1964:Cntnap1 UTSW 11 101,178,024 (GRCm38) nonsense probably null
R1966:Cntnap1 UTSW 11 101,180,386 (GRCm38) missense possibly damaging 0.89
R2070:Cntnap1 UTSW 11 101,182,979 (GRCm38) missense probably damaging 1.00
R2088:Cntnap1 UTSW 11 101,182,547 (GRCm38) missense probably damaging 1.00
R3795:Cntnap1 UTSW 11 101,186,764 (GRCm38) missense probably damaging 0.99
R4375:Cntnap1 UTSW 11 101,182,253 (GRCm38) missense probably damaging 1.00
R4779:Cntnap1 UTSW 11 101,178,072 (GRCm38) missense possibly damaging 0.91
R4832:Cntnap1 UTSW 11 101,183,019 (GRCm38) missense probably damaging 1.00
R4965:Cntnap1 UTSW 11 101,177,425 (GRCm38) missense possibly damaging 0.52
R4981:Cntnap1 UTSW 11 101,176,333 (GRCm38) splice site probably null
R5008:Cntnap1 UTSW 11 101,188,741 (GRCm38) nonsense probably null
R5399:Cntnap1 UTSW 11 101,183,316 (GRCm38) missense probably benign
R5507:Cntnap1 UTSW 11 101,183,477 (GRCm38) missense probably benign 0.42
R5560:Cntnap1 UTSW 11 101,182,435 (GRCm38) missense probably damaging 1.00
R5589:Cntnap1 UTSW 11 101,185,118 (GRCm38) missense probably benign
R6038:Cntnap1 UTSW 11 101,184,636 (GRCm38) missense probably benign 0.12
R6038:Cntnap1 UTSW 11 101,184,636 (GRCm38) missense probably benign 0.12
R6242:Cntnap1 UTSW 11 101,182,538 (GRCm38) missense probably damaging 1.00
R6306:Cntnap1 UTSW 11 101,184,615 (GRCm38) missense probably damaging 1.00
R6392:Cntnap1 UTSW 11 101,186,646 (GRCm38) missense probably damaging 1.00
R6803:Cntnap1 UTSW 11 101,177,234 (GRCm38) missense possibly damaging 0.81
R6939:Cntnap1 UTSW 11 101,186,511 (GRCm38) missense probably damaging 0.99
R6944:Cntnap1 UTSW 11 101,182,904 (GRCm38) missense probably damaging 0.97
R7152:Cntnap1 UTSW 11 101,177,326 (GRCm38) missense probably damaging 1.00
R7297:Cntnap1 UTSW 11 101,188,634 (GRCm38) missense probably benign 0.01
R7347:Cntnap1 UTSW 11 101,185,268 (GRCm38) missense probably damaging 1.00
R7961:Cntnap1 UTSW 11 101,178,295 (GRCm38) missense probably benign
R7980:Cntnap1 UTSW 11 101,188,893 (GRCm38) missense probably benign
R8307:Cntnap1 UTSW 11 101,188,876 (GRCm38) missense possibly damaging 0.73
R8386:Cntnap1 UTSW 11 101,182,203 (GRCm38) missense probably damaging 1.00
R8403:Cntnap1 UTSW 11 101,177,590 (GRCm38) missense probably damaging 1.00
R8826:Cntnap1 UTSW 11 101,186,829 (GRCm38) missense probably damaging 0.99
R9103:Cntnap1 UTSW 11 101,181,268 (GRCm38) missense probably benign 0.06
R9279:Cntnap1 UTSW 11 101,181,295 (GRCm38) missense probably damaging 0.99
R9284:Cntnap1 UTSW 11 101,177,311 (GRCm38) missense probably benign
R9386:Cntnap1 UTSW 11 101,185,226 (GRCm38) missense probably damaging 1.00
R9689:Cntnap1 UTSW 11 101,181,352 (GRCm38) missense probably damaging 0.98
R9697:Cntnap1 UTSW 11 101,178,002 (GRCm38) missense possibly damaging 0.51
RF042:Cntnap1 UTSW 11 101,180,305 (GRCm38) critical splice acceptor site probably benign
RF048:Cntnap1 UTSW 11 101,189,563 (GRCm38) unclassified probably benign
RF048:Cntnap1 UTSW 11 101,180,305 (GRCm38) critical splice acceptor site probably benign
RF049:Cntnap1 UTSW 11 101,189,592 (GRCm38) unclassified probably benign
RF049:Cntnap1 UTSW 11 101,189,596 (GRCm38) unclassified probably benign
RF050:Cntnap1 UTSW 11 101,189,592 (GRCm38) unclassified probably benign
Z1176:Cntnap1 UTSW 11 101,182,898 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGAACCCTGATACCTCTTTC -3'
(R):5'- CAATCCATCCGTCGTCATGG -3'

Sequencing Primer
(F):5'- GAACCCTGATACCTCTTTCTTGGC -3'
(R):5'- AATCCATCCGTCGTCATGGTAGTATG -3'
Posted On 2014-09-18