Incidental Mutation 'R8838:Cntnap5c'
ID 674298
Institutional Source Beutler Lab
Gene Symbol Cntnap5c
Ensembl Gene ENSMUSG00000038048
Gene Name contactin associated protein-like 5C
Synonyms
MMRRC Submission 068666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R8838 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 58076565-58717350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58198964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 86 (V86E)
Ref Sequence ENSEMBL: ENSMUSP00000075416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076038]
AlphaFold Q0V8T7
Predicted Effect
SMART Domains Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: V86E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FA58C 29 174 1.26e-10 SMART
LamG 201 338 1.57e-29 SMART
LamG 387 521 3e-26 SMART
EGF 549 583 1.88e-1 SMART
Blast:FBG 586 769 8e-83 BLAST
LamG 811 938 4.37e-28 SMART
EGF 959 995 6.55e-1 SMART
LamG 1036 1172 2.08e-11 SMART
transmembrane domain 1240 1262 N/A INTRINSIC
Meta Mutation Damage Score 0.1885 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,920,881 (GRCm39) I1498F probably damaging Het
Aco2 T A 15: 81,796,128 (GRCm39) N508K probably damaging Het
Aff4 T C 11: 53,297,465 (GRCm39) S896P possibly damaging Het
Anapc2 T G 2: 25,163,546 (GRCm39) V261G probably benign Het
Atm A G 9: 53,427,851 (GRCm39) S420P probably damaging Het
Bag6 C T 17: 35,363,367 (GRCm39) R736C probably damaging Het
Brca2 A G 5: 150,465,005 (GRCm39) T1590A possibly damaging Het
Cacna2d3 C T 14: 28,691,220 (GRCm39) C35Y probably benign Het
Cep170b G A 12: 112,710,159 (GRCm39) R1433H probably damaging Het
Cmtm2a A G 8: 105,008,036 (GRCm39) C138R probably damaging Het
Cog7 A G 7: 121,549,106 (GRCm39) I385T probably damaging Het
Col28a1 A T 6: 8,091,839 (GRCm39) probably null Het
Dkk3 T C 7: 111,717,542 (GRCm39) E309G probably benign Het
Dnah10 T C 5: 124,842,614 (GRCm39) V1411A probably benign Het
Enox1 G T 14: 77,819,950 (GRCm39) R235L probably benign Het
Foxn1 T C 11: 78,252,438 (GRCm39) N317D possibly damaging Het
Grip2 G A 6: 91,762,721 (GRCm39) probably benign Het
Hmmr T C 11: 40,604,854 (GRCm39) T406A probably benign Het
Hpcal1 G A 12: 17,836,197 (GRCm39) R9H probably benign Het
Iglv3 A T 16: 19,060,132 (GRCm39) Y65* probably null Het
Itgal A G 7: 126,910,433 (GRCm39) Y514C probably damaging Het
Kcnk9 T C 15: 72,418,019 (GRCm39) E37G possibly damaging Het
Klhl40 A G 9: 121,609,107 (GRCm39) D424G probably benign Het
Lbr A G 1: 181,648,294 (GRCm39) L389P possibly damaging Het
Ly9 A G 1: 171,421,569 (GRCm39) Y561H probably damaging Het
Mcoln3 T C 3: 145,845,126 (GRCm39) F441L probably damaging Het
Muc20 G T 16: 32,613,829 (GRCm39) T516K possibly damaging Het
Naa35 T C 13: 59,775,775 (GRCm39) M551T probably benign Het
Nkx6-2 T A 7: 139,161,868 (GRCm39) T170S probably damaging Het
Nlrp4c T A 7: 6,069,337 (GRCm39) F413I Het
Or10w1 G A 19: 13,632,371 (GRCm39) V193M probably damaging Het
Or1s2 C A 19: 13,758,381 (GRCm39) T133K probably benign Het
Or6c1b T G 10: 129,273,065 (GRCm39) L128R probably damaging Het
Or8k22 T C 2: 86,163,317 (GRCm39) K128E possibly damaging Het
Pcdhga10 C T 18: 37,881,952 (GRCm39) T571I possibly damaging Het
Pla2g4a A T 1: 149,747,256 (GRCm39) M310K probably benign Het
Plaa T C 4: 94,471,791 (GRCm39) T353A probably benign Het
Rapgef1 T C 2: 29,627,458 (GRCm39) F1172S possibly damaging Het
Rfx2 T C 17: 57,087,877 (GRCm39) T505A possibly damaging Het
Rfx4 T C 10: 84,676,758 (GRCm39) V216A probably damaging Het
Rps6kb2 G T 19: 4,211,183 (GRCm39) A114D probably damaging Het
Sdc2 T A 15: 33,023,897 (GRCm39) L92* probably null Het
Slc18b1 A G 10: 23,696,764 (GRCm39) Y319C probably benign Het
Slc22a15 A T 3: 101,790,849 (GRCm39) Y219N probably damaging Het
Tarbp1 A T 8: 127,177,569 (GRCm39) probably benign Het
Tfap2d T C 1: 19,175,036 (GRCm39) L163P possibly damaging Het
Trank1 A G 9: 111,193,973 (GRCm39) I666V probably benign Het
Trav14-1 G T 14: 53,792,009 (GRCm39) A120S probably damaging Het
Trps1 T A 15: 50,753,007 (GRCm39) N20I probably benign Het
Txndc16 A G 14: 45,378,028 (GRCm39) Y682H probably damaging Het
Ube4a A T 9: 44,837,261 (GRCm39) D991E probably damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably damaging Het
Other mutations in Cntnap5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Cntnap5c APN 17 58,469,272 (GRCm39) missense probably benign 0.00
IGL00543:Cntnap5c APN 17 58,601,345 (GRCm39) missense probably benign
IGL00679:Cntnap5c APN 17 58,362,673 (GRCm39) missense probably damaging 0.98
IGL00942:Cntnap5c APN 17 58,076,593 (GRCm39) missense probably benign 0.03
IGL01352:Cntnap5c APN 17 58,600,896 (GRCm39) missense probably benign 0.00
IGL01822:Cntnap5c APN 17 58,362,700 (GRCm39) missense probably damaging 0.99
IGL01864:Cntnap5c APN 17 58,717,237 (GRCm39) missense probably benign
IGL01922:Cntnap5c APN 17 58,637,114 (GRCm39) missense possibly damaging 0.95
IGL02111:Cntnap5c APN 17 58,409,103 (GRCm39) missense probably damaging 1.00
IGL02112:Cntnap5c APN 17 58,620,853 (GRCm39) missense probably benign 0.00
IGL02259:Cntnap5c APN 17 58,341,857 (GRCm39) missense probably damaging 0.98
IGL02270:Cntnap5c APN 17 58,341,848 (GRCm39) missense probably benign 0.08
IGL02312:Cntnap5c APN 17 58,445,694 (GRCm39) missense probably benign 0.09
IGL02456:Cntnap5c APN 17 58,714,739 (GRCm39) splice site probably benign
IGL02755:Cntnap5c APN 17 58,671,189 (GRCm39) missense probably benign 0.02
IGL02955:Cntnap5c APN 17 58,199,097 (GRCm39) splice site probably benign
IGL03001:Cntnap5c APN 17 58,362,634 (GRCm39) missense probably damaging 1.00
IGL03012:Cntnap5c APN 17 58,666,229 (GRCm39) missense probably benign 0.01
IGL03243:Cntnap5c APN 17 58,409,171 (GRCm39) missense probably benign 0.01
IGL03375:Cntnap5c APN 17 58,469,200 (GRCm39) missense possibly damaging 0.94
IGL02802:Cntnap5c UTSW 17 58,612,679 (GRCm39) missense probably benign 0.04
LCD18:Cntnap5c UTSW 17 58,469,155 (GRCm39) intron probably benign
R0003:Cntnap5c UTSW 17 58,506,012 (GRCm39) missense probably benign
R0041:Cntnap5c UTSW 17 58,183,464 (GRCm39) missense probably benign 0.00
R0041:Cntnap5c UTSW 17 58,183,464 (GRCm39) missense probably benign 0.00
R0046:Cntnap5c UTSW 17 58,666,295 (GRCm39) missense probably benign
R0046:Cntnap5c UTSW 17 58,666,295 (GRCm39) missense probably benign
R0179:Cntnap5c UTSW 17 58,076,620 (GRCm39) missense probably benign 0.19
R0244:Cntnap5c UTSW 17 58,409,163 (GRCm39) missense probably damaging 1.00
R0445:Cntnap5c UTSW 17 58,411,738 (GRCm39) missense probably benign 0.01
R0626:Cntnap5c UTSW 17 58,349,422 (GRCm39) missense probably benign 0.29
R0675:Cntnap5c UTSW 17 58,341,990 (GRCm39) missense probably damaging 1.00
R0681:Cntnap5c UTSW 17 58,612,550 (GRCm39) missense possibly damaging 0.91
R0699:Cntnap5c UTSW 17 58,349,493 (GRCm39) missense probably damaging 1.00
R0927:Cntnap5c UTSW 17 58,349,553 (GRCm39) missense possibly damaging 0.78
R1081:Cntnap5c UTSW 17 58,612,520 (GRCm39) missense possibly damaging 0.90
R1132:Cntnap5c UTSW 17 58,601,351 (GRCm39) missense probably damaging 1.00
R1175:Cntnap5c UTSW 17 58,671,241 (GRCm39) missense possibly damaging 0.51
R1640:Cntnap5c UTSW 17 58,702,289 (GRCm39) missense probably benign 0.01
R1664:Cntnap5c UTSW 17 58,600,985 (GRCm39) missense probably benign 0.00
R1758:Cntnap5c UTSW 17 58,349,545 (GRCm39) missense probably damaging 1.00
R1785:Cntnap5c UTSW 17 58,469,286 (GRCm39) missense probably benign 0.00
R1789:Cntnap5c UTSW 17 58,320,916 (GRCm39) missense probably damaging 1.00
R1968:Cntnap5c UTSW 17 58,666,291 (GRCm39) missense probably damaging 1.00
R2041:Cntnap5c UTSW 17 58,505,984 (GRCm39) missense probably benign 0.02
R2041:Cntnap5c UTSW 17 58,411,765 (GRCm39) critical splice donor site probably null
R2073:Cntnap5c UTSW 17 58,612,547 (GRCm39) missense possibly damaging 0.58
R2093:Cntnap5c UTSW 17 58,505,995 (GRCm39) missense probably benign 0.00
R2134:Cntnap5c UTSW 17 58,714,717 (GRCm39) missense probably damaging 1.00
R2153:Cntnap5c UTSW 17 58,362,666 (GRCm39) missense possibly damaging 0.90
R2176:Cntnap5c UTSW 17 58,320,941 (GRCm39) missense probably benign 0.04
R2256:Cntnap5c UTSW 17 58,637,310 (GRCm39) missense probably benign 0.00
R2847:Cntnap5c UTSW 17 58,183,387 (GRCm39) missense probably damaging 0.99
R2848:Cntnap5c UTSW 17 58,183,387 (GRCm39) missense probably damaging 0.99
R2850:Cntnap5c UTSW 17 58,717,343 (GRCm39) utr 3 prime probably benign
R3008:Cntnap5c UTSW 17 58,666,204 (GRCm39) missense probably damaging 1.00
R3714:Cntnap5c UTSW 17 58,199,062 (GRCm39) nonsense probably null
R3720:Cntnap5c UTSW 17 58,637,197 (GRCm39) missense probably benign
R3755:Cntnap5c UTSW 17 58,411,594 (GRCm39) missense possibly damaging 0.82
R4001:Cntnap5c UTSW 17 58,714,735 (GRCm39) critical splice donor site probably null
R4619:Cntnap5c UTSW 17 58,717,263 (GRCm39) missense probably benign
R5146:Cntnap5c UTSW 17 58,320,842 (GRCm39) missense probably damaging 0.96
R5309:Cntnap5c UTSW 17 58,666,249 (GRCm39) missense probably benign 0.05
R5312:Cntnap5c UTSW 17 58,666,249 (GRCm39) missense probably benign 0.05
R5722:Cntnap5c UTSW 17 58,620,852 (GRCm39) missense probably benign 0.01
R5974:Cntnap5c UTSW 17 58,183,480 (GRCm39) missense probably benign 0.00
R6017:Cntnap5c UTSW 17 58,411,693 (GRCm39) missense probably benign 0.41
R6059:Cntnap5c UTSW 17 58,620,707 (GRCm39) missense probably damaging 0.99
R6152:Cntnap5c UTSW 17 58,593,881 (GRCm39) missense possibly damaging 0.65
R6182:Cntnap5c UTSW 17 58,183,390 (GRCm39) missense probably benign 0.00
R6298:Cntnap5c UTSW 17 58,411,747 (GRCm39) missense probably damaging 1.00
R6301:Cntnap5c UTSW 17 58,199,032 (GRCm39) missense probably benign 0.01
R6514:Cntnap5c UTSW 17 58,637,165 (GRCm39) missense probably damaging 0.96
R6583:Cntnap5c UTSW 17 58,637,272 (GRCm39) missense probably damaging 1.00
R6688:Cntnap5c UTSW 17 58,600,899 (GRCm39) missense possibly damaging 0.71
R6781:Cntnap5c UTSW 17 58,445,648 (GRCm39) nonsense probably null
R6866:Cntnap5c UTSW 17 58,399,289 (GRCm39) missense probably benign
R6906:Cntnap5c UTSW 17 58,702,302 (GRCm39) missense probably benign 0.18
R6911:Cntnap5c UTSW 17 58,199,009 (GRCm39) missense probably damaging 1.00
R6919:Cntnap5c UTSW 17 58,600,948 (GRCm39) missense probably benign 0.02
R6923:Cntnap5c UTSW 17 58,399,345 (GRCm39) missense possibly damaging 0.96
R6925:Cntnap5c UTSW 17 58,702,261 (GRCm39) missense probably benign 0.39
R6982:Cntnap5c UTSW 17 58,399,247 (GRCm39) missense possibly damaging 0.77
R7144:Cntnap5c UTSW 17 58,593,883 (GRCm39) missense probably benign
R7422:Cntnap5c UTSW 17 58,717,226 (GRCm39) nonsense probably null
R7797:Cntnap5c UTSW 17 58,666,270 (GRCm39) missense probably benign 0.11
R7830:Cntnap5c UTSW 17 58,469,245 (GRCm39) missense probably damaging 1.00
R8169:Cntnap5c UTSW 17 58,411,765 (GRCm39) critical splice donor site probably null
R8351:Cntnap5c UTSW 17 58,362,687 (GRCm39) missense probably damaging 1.00
R8352:Cntnap5c UTSW 17 58,362,687 (GRCm39) missense probably damaging 1.00
R8451:Cntnap5c UTSW 17 58,362,687 (GRCm39) missense probably damaging 1.00
R8452:Cntnap5c UTSW 17 58,362,687 (GRCm39) missense probably damaging 1.00
R8696:Cntnap5c UTSW 17 58,601,294 (GRCm39) missense probably damaging 1.00
R8725:Cntnap5c UTSW 17 58,362,663 (GRCm39) missense probably damaging 1.00
R8901:Cntnap5c UTSW 17 58,637,156 (GRCm39) missense probably benign 0.03
R8911:Cntnap5c UTSW 17 58,506,043 (GRCm39) missense probably damaging 0.98
R9010:Cntnap5c UTSW 17 58,671,159 (GRCm39) missense probably benign 0.00
R9065:Cntnap5c UTSW 17 58,445,642 (GRCm39) missense probably damaging 1.00
R9082:Cntnap5c UTSW 17 58,637,335 (GRCm39) missense probably damaging 0.98
R9122:Cntnap5c UTSW 17 58,411,601 (GRCm39) missense probably benign 0.01
R9137:Cntnap5c UTSW 17 58,601,203 (GRCm39) splice site probably benign
R9176:Cntnap5c UTSW 17 58,620,730 (GRCm39) missense probably damaging 1.00
R9179:Cntnap5c UTSW 17 58,600,912 (GRCm39) missense probably benign 0.14
R9352:Cntnap5c UTSW 17 58,399,463 (GRCm39) missense probably benign 0.01
R9485:Cntnap5c UTSW 17 58,409,103 (GRCm39) missense probably damaging 1.00
R9558:Cntnap5c UTSW 17 58,671,157 (GRCm39) critical splice acceptor site probably null
R9792:Cntnap5c UTSW 17 58,409,192 (GRCm39) missense probably benign 0.03
R9793:Cntnap5c UTSW 17 58,409,192 (GRCm39) missense probably benign 0.03
R9795:Cntnap5c UTSW 17 58,409,192 (GRCm39) missense probably benign 0.03
RF010:Cntnap5c UTSW 17 58,593,790 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCAGAGGCAGCAACTGTG -3'
(R):5'- CCCTAATGGTCTGGGTACAGTAAG -3'

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