Incidental Mutation 'R9352:Cntnap5c'
ID 708183
Institutional Source Beutler Lab
Gene Symbol Cntnap5c
Ensembl Gene ENSMUSG00000038048
Gene Name contactin associated protein-like 5C
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9352 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 58076565-58717350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58399463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 439 (I439V)
Ref Sequence ENSEMBL: ENSMUSP00000075416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076038]
AlphaFold Q0V8T7
Predicted Effect probably benign
Transcript: ENSMUST00000076038
AA Change: I439V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: I439V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A T 7: 82,091,656 (GRCm39) Q123L probably damaging Het
Adarb2 T A 13: 8,807,428 (GRCm39) L743Q probably damaging Het
Alpk2 C A 18: 65,439,783 (GRCm39) D537Y probably benign Het
Anxa4 C T 6: 86,742,775 (GRCm39) probably benign Het
Arfgap3 T A 15: 83,191,127 (GRCm39) I464L possibly damaging Het
Asb2 C T 12: 103,296,698 (GRCm39) V320I probably damaging Het
Axl T C 7: 25,462,752 (GRCm39) T659A possibly damaging Het
Bbof1 A G 12: 84,461,394 (GRCm39) H139R probably benign Het
Birc6 G A 17: 74,965,347 (GRCm39) probably null Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Chil3 A T 3: 106,067,787 (GRCm39) F126Y probably damaging Het
Chrnb4 T A 9: 54,951,167 (GRCm39) D32V probably benign Het
Chst15 C A 7: 131,872,257 (GRCm39) C8F probably damaging Het
Crisp2 T A 17: 41,078,200 (GRCm39) N194I probably damaging Het
Csrnp1 G A 9: 119,801,997 (GRCm39) T354M probably benign Het
Cul1 T A 6: 47,479,426 (GRCm39) S231T probably benign Het
Cyp27a1 C T 1: 74,752,920 (GRCm39) T44M possibly damaging Het
Dgkg T C 16: 22,398,581 (GRCm39) D232G probably damaging Het
Dnah1 G T 14: 31,038,620 (GRCm39) Q154K probably benign Het
Dnmt1 A G 9: 20,840,384 (GRCm39) V304A probably benign Het
Dok6 T C 18: 89,492,133 (GRCm39) N148S probably benign Het
Fnta A T 8: 26,501,119 (GRCm39) W134R probably damaging Het
Garin5b T A 7: 4,761,605 (GRCm39) Y369F Het
Gm32742 T G 9: 51,052,544 (GRCm39) Q1441P possibly damaging Het
Gm3486 T C 14: 41,208,318 (GRCm39) Q131R possibly damaging Het
Gnptab A G 10: 88,268,350 (GRCm39) N486D probably benign Het
H2-Q4 T G 17: 35,601,909 (GRCm39) F257C probably damaging Het
Hfe A G 13: 23,890,119 (GRCm39) V218A probably benign Het
Htr2b A G 1: 86,027,294 (GRCm39) V404A probably benign Het
Hyou1 T A 9: 44,300,926 (GRCm39) probably null Het
Ikbkb T C 8: 23,150,444 (GRCm39) D746G probably benign Het
Ikzf4 T C 10: 128,472,623 (GRCm39) N251S probably benign Het
Il23r A C 6: 67,403,592 (GRCm39) N436K probably damaging Het
Impg2 A T 16: 56,072,470 (GRCm39) I301L probably benign Het
Irf4 A T 13: 30,936,706 (GRCm39) M146L probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kctd3 T C 1: 188,704,777 (GRCm39) S665G probably damaging Het
Kiz T C 2: 146,794,927 (GRCm39) S596P probably damaging Het
Kpna2 T C 11: 106,880,292 (GRCm39) E452G probably damaging Het
Lclat1 A G 17: 73,468,937 (GRCm39) Y39C probably damaging Het
Lig3 A G 11: 82,686,971 (GRCm39) S705G probably benign Het
Lrp1b T C 2: 40,748,438 (GRCm39) D3134G Het
Map3k8 C T 18: 4,349,170 (GRCm39) M49I probably benign Het
Mep1b A G 18: 21,209,431 (GRCm39) D54G probably damaging Het
Mgat5b T A 11: 116,857,533 (GRCm39) S342R probably benign Het
Mthfd2l G T 5: 91,109,172 (GRCm39) V201L possibly damaging Het
Naip6 G T 13: 100,437,893 (GRCm39) T371K possibly damaging Het
Naxd T C 8: 11,555,504 (GRCm39) I104T probably damaging Het
Nbeal2 T A 9: 110,456,916 (GRCm39) I2361F probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e17 A G 11: 73,831,470 (GRCm39) T133A probably benign Het
Or6c75 A T 10: 129,337,364 (GRCm39) M196L probably benign Het
Or8b8 A G 9: 37,808,712 (GRCm39) E4G probably benign Het
Or8c16 T G 9: 38,130,683 (GRCm39) L185R probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Polq T C 16: 36,862,252 (GRCm39) F591L probably damaging Het
Ppp2r1a A T 17: 21,185,499 (GRCm39) probably null Het
Prrc1 A G 18: 57,522,317 (GRCm39) Y383C probably damaging Het
Ptgfr A T 3: 151,541,160 (GRCm39) V116D probably damaging Het
Qpctl C T 7: 18,878,599 (GRCm39) R292Q possibly damaging Het
Rasip1 G A 7: 45,278,280 (GRCm39) V194M possibly damaging Het
Rbbp4 A T 4: 129,211,498 (GRCm39) N385K probably benign Het
Rbbp8nl A G 2: 179,921,053 (GRCm39) S444P probably benign Het
Resf1 T C 6: 149,236,180 (GRCm39) F1500S probably damaging Het
Sf3a1 G A 11: 4,110,494 (GRCm39) A3T unknown Het
Slc1a4 A G 11: 20,282,025 (GRCm39) S150P probably damaging Het
Slc28a2 T C 2: 122,281,522 (GRCm39) probably null Het
Slc30a5 A G 13: 100,940,380 (GRCm39) I702T probably benign Het
Slc36a4 T A 9: 15,633,319 (GRCm39) probably null Het
Slf2 A G 19: 44,931,957 (GRCm39) R671G probably null Het
Smarcc1 A G 9: 110,035,220 (GRCm39) K881R probably null Het
Srsf11 A G 3: 157,717,836 (GRCm39) V414A unknown Het
Tcn2 T C 11: 3,873,446 (GRCm39) N300S probably damaging Het
Tecta T C 9: 42,249,147 (GRCm39) K1905R probably damaging Het
Tex30 T G 1: 44,130,753 (GRCm39) probably null Het
Tktl2 A T 8: 66,965,974 (GRCm39) I511F possibly damaging Het
Tpp1 G T 7: 105,398,881 (GRCm39) Q183K probably benign Het
Trib2 A C 12: 15,865,413 (GRCm39) I30R probably benign Het
Tti1 A G 2: 157,842,692 (GRCm39) L779P probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b GAGCCA GAGCCATAGCCA 4: 43,177,313 (GRCm39) probably null Het
Vmn2r112 A G 17: 22,822,479 (GRCm39) T386A probably damaging Het
Vps16 T C 2: 130,283,823 (GRCm39) probably null Het
Zan T G 5: 137,434,745 (GRCm39) N2186T unknown Het
Zdhhc11 C T 13: 74,121,800 (GRCm39) R104* probably null Het
Zfp318 T G 17: 46,721,284 (GRCm39) H1176Q probably damaging Het
Zfp335 G A 2: 164,742,242 (GRCm39) H581Y probably damaging Het
Zfp7 T C 15: 76,775,674 (GRCm39) I572T probably damaging Het
Zfp955a T C 17: 33,461,335 (GRCm39) T266A probably benign 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
R8838:Cntnap5c UTSW 17 58,198,964 (GRCm39) missense
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
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'- TTGCTGTTGACTGGTACCC -3'
(R):5'- GCCTGAGACCATTTCTATCACC -3'

Sequencing Primer
(F):5'- CCCCAAATTGATGGACTGTCAGTG -3'
(R):5'- AGGAACTTATCTTTGGTTGACTTAGG -3'
Posted On 2022-04-18