Incidental Mutation 'R8826:Cntnap1'
ID 673478
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 068729-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R8826 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101077655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1106 (R1106C)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109] [ENSMUST00000107284] [ENSMUST00000107285]
AlphaFold O54991
Predicted Effect probably damaging
Transcript: ENSMUST00000103109
AA Change: R1106C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: R1106C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 T C 8: 124,619,978 (GRCm39) M121V probably damaging Het
AI987944 A T 7: 41,024,627 (GRCm39) H120Q possibly damaging Het
Aldh9a1 C G 1: 167,184,119 (GRCm39) P205A probably damaging Het
Ank2 A T 3: 126,740,951 (GRCm39) N1644K unknown Het
Arfgef2 A T 2: 166,677,386 (GRCm39) probably benign Het
Bpifb4 G T 2: 153,783,817 (GRCm39) V54L probably benign Het
Cacna1c T A 6: 118,711,836 (GRCm39) M456L Het
Cbln1 T C 8: 88,198,420 (GRCm39) N95S probably benign Het
Ccl11 G T 11: 81,953,044 (GRCm39) R67S possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Cd2bp2 A T 7: 126,793,257 (GRCm39) M283K probably damaging Het
Cd86 G T 16: 36,435,650 (GRCm39) L256I possibly damaging Het
Ces2f T A 8: 105,679,734 (GRCm39) F409Y probably benign Het
Cisd3 A T 11: 97,579,158 (GRCm39) Q100L probably damaging Het
Col6a2 A T 10: 76,439,433 (GRCm39) M777K probably damaging Het
Cp A G 3: 20,039,739 (GRCm39) Y852C probably damaging Het
Ddx1 T C 12: 13,277,332 (GRCm39) E523G probably damaging Het
Ddx60 T A 8: 62,398,990 (GRCm39) D236E probably benign Het
Dnah9 A T 11: 65,740,742 (GRCm39) F4148Y probably benign Het
Dusp6 G T 10: 99,099,469 (GRCm39) probably benign Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Enpep G A 3: 129,065,067 (GRCm39) T874I probably damaging Het
Eps15 A G 4: 109,169,505 (GRCm39) D105G possibly damaging Het
Ess2 A T 16: 17,722,954 (GRCm39) M320K probably damaging Het
Exosc10 G A 4: 148,653,159 (GRCm39) probably null Het
Fam13b A T 18: 34,631,070 (GRCm39) N36K probably damaging Het
Fanca T C 8: 123,995,209 (GRCm39) D1431G probably benign Het
Fgg A G 3: 82,921,625 (GRCm39) D436G probably benign Het
Fip1l1 C T 5: 74,725,188 (GRCm39) T251I probably benign Het
Galnt2 A G 8: 125,032,347 (GRCm39) N104S probably damaging Het
Gmip T C 8: 70,268,748 (GRCm39) S458P possibly damaging Het
Herc2 A G 7: 55,756,144 (GRCm39) D728G probably benign Het
Hif3a A G 7: 16,788,671 (GRCm39) L100P probably damaging Het
Hmox2 C G 16: 4,583,866 (GRCm39) P282R possibly damaging Het
Hook1 A T 4: 95,880,432 (GRCm39) H90L probably benign Het
Igf2bp2 C A 16: 21,883,866 (GRCm39) G473C probably damaging Het
Ip6k2 T C 9: 108,675,379 (GRCm39) probably null Het
Ipo5 G T 14: 121,157,366 (GRCm39) R68L probably damaging Het
Kif19b A G 5: 140,455,434 (GRCm39) M347V probably damaging Het
Klhdc1 G T 12: 69,305,392 (GRCm39) W234L probably damaging Het
Krt8 A G 15: 101,909,870 (GRCm39) V178A possibly damaging Het
Lgi3 T A 14: 70,768,712 (GRCm39) probably null Het
Litaf T G 16: 10,784,421 (GRCm39) N30H probably benign Het
Lman2 C A 13: 55,510,368 (GRCm39) W12L unknown Het
Macf1 A G 4: 123,276,022 (GRCm39) L6182P probably damaging Het
Magi3 A T 3: 103,992,662 (GRCm39) M270K probably benign Het
Mapre2 A T 18: 23,886,888 (GRCm39) probably benign Het
Minar1 T A 9: 89,483,234 (GRCm39) E721V probably damaging Het
Mllt10 T A 2: 18,167,353 (GRCm39) V426D probably benign Het
Mrgprf A G 7: 144,862,046 (GRCm39) I203V probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Mrpl24 C T 3: 87,829,701 (GRCm39) R96* probably null Het
Nbas T A 12: 13,402,875 (GRCm39) probably benign Het
Nipal4 G A 11: 46,045,470 (GRCm39) T131M possibly damaging Het
Nlrp12 T C 7: 3,289,621 (GRCm39) D297G possibly damaging Het
Nol6 A C 4: 41,121,823 (GRCm39) M237R probably benign Het
Olig1 A G 16: 91,067,027 (GRCm39) E88G probably benign Het
Or1j19 T A 2: 36,676,855 (GRCm39) L106* probably null Het
Parg A G 14: 31,931,175 (GRCm39) D265G possibly damaging Het
Pcdhgb8 A T 18: 37,895,301 (GRCm39) I124L probably damaging Het
Pign A G 1: 105,481,827 (GRCm39) F822L probably damaging Het
Plch2 T C 4: 155,071,140 (GRCm39) T1080A probably benign Het
Pld4 A T 12: 112,733,210 (GRCm39) Y262F possibly damaging Het
Ppp1r12b A G 1: 134,693,730 (GRCm39) V977A probably benign Het
Ppp6r3 C T 19: 3,521,984 (GRCm39) E565K Het
Psmg2 A G 18: 67,787,158 (GRCm39) probably benign Het
Ptcd3 C T 6: 71,885,645 (GRCm39) G27D probably benign Het
Retreg2 G T 1: 75,119,525 (GRCm39) G7C unknown Het
Rlbp1 A T 7: 79,027,114 (GRCm39) F182Y probably benign Het
Rnf148 G C 6: 23,654,378 (GRCm39) S206C probably benign Het
Sash1 A G 10: 8,637,869 (GRCm39) M1T probably null Het
Shank3 A T 15: 89,433,598 (GRCm39) T1448S probably damaging Het
Sipa1l1 A G 12: 82,389,207 (GRCm39) K478E probably damaging Het
Slitrk6 A G 14: 110,988,801 (GRCm39) I302T probably benign Het
Smc1b A G 15: 84,950,529 (GRCm39) V1165A probably damaging Het
Sncaip A T 18: 53,048,381 (GRCm39) H939L probably benign Het
Stn1 T C 19: 47,524,709 (GRCm39) D27G probably damaging Het
Sugct T G 13: 17,427,180 (GRCm39) probably null Het
Tmem259 A G 10: 79,814,983 (GRCm39) S214P probably damaging Het
Trdv4 G A 14: 54,312,946 (GRCm39) G107S probably damaging Het
Ttc3 C T 16: 94,232,829 (GRCm39) L957F possibly damaging Het
Ttn A G 2: 76,711,471 (GRCm39) Y8357H unknown Het
Twnk T C 19: 44,996,434 (GRCm39) V289A probably benign Het
Umodl1 A G 17: 31,202,958 (GRCm39) D437G possibly damaging Het
Upf1 T C 8: 70,790,930 (GRCm39) T590A probably benign Het
Vmn2r63 A T 7: 42,576,441 (GRCm39) D457E probably benign Het
Wdr82 A T 9: 106,061,975 (GRCm39) T213S probably benign Het
Zfp267 T C 3: 36,218,255 (GRCm39) Y93H possibly damaging Het
Zfp672 A T 11: 58,220,590 (GRCm39) M3K unknown Het
Zfyve26 A G 12: 79,285,742 (GRCm39) V2345A 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
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
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'- TGGTTACGTGCCTGGATACC -3'
(R):5'- TTAGCTGGTACACATAGGGACTGG -3'

Sequencing Primer
(F):5'- ATACCACGGCCCTGGGTAC -3'
(R):5'- CTGATACCGAAGCTGTAGGGTC -3'
Posted On 2021-07-15