Incidental Mutation 'R0927:Cntnap5c'
ID 80569
Institutional Source Beutler Lab
Gene Symbol Cntnap5c
Ensembl Gene ENSMUSG00000038048
Gene Name contactin associated protein-like 5C
Synonyms
MMRRC Submission 039074-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0927 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 58076565-58717350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58349553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 289 (T289S)
Ref Sequence ENSEMBL: ENSMUSP00000075416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076038]
AlphaFold Q0V8T7
Predicted Effect possibly damaging
Transcript: ENSMUST00000076038
AA Change: T289S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: T289S

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,607,317 (GRCm39) L363P probably damaging Het
Adam12 T A 7: 133,599,959 (GRCm39) H85L probably damaging Het
Adam34 A T 8: 44,104,621 (GRCm39) H341Q probably damaging Het
Adam34l A T 8: 44,078,160 (GRCm39) M688K probably benign Het
Adam7 A G 14: 68,754,133 (GRCm39) L322P probably damaging Het
Adcy5 T A 16: 34,976,613 (GRCm39) S49T probably benign Het
Arfgap2 T C 2: 91,104,150 (GRCm39) S374P probably benign Het
Arpp19 G A 9: 74,944,967 (GRCm39) probably benign Het
Baz1a T C 12: 54,941,773 (GRCm39) K1478E probably damaging Het
Cdc27 G T 11: 104,396,467 (GRCm39) A812E possibly damaging Het
Chtf8 G A 8: 107,612,150 (GRCm39) T263I probably damaging Het
Clcn6 T C 4: 148,113,849 (GRCm39) N70D probably benign Het
Dzip3 T C 16: 48,795,840 (GRCm39) N177S probably damaging Het
Edar G T 10: 58,465,313 (GRCm39) probably null Het
Enam T A 5: 88,641,919 (GRCm39) N244K possibly damaging Het
Fbxw10 A G 11: 62,767,770 (GRCm39) K874E probably damaging Het
Glra3 A G 8: 56,578,239 (GRCm39) E432G possibly damaging Het
Grin3b G A 10: 79,807,062 (GRCm39) R110Q probably benign Het
Herc3 T A 6: 58,845,748 (GRCm39) V423D possibly damaging Het
Ifit2 A T 19: 34,550,984 (GRCm39) T175S probably benign Het
Kcnj8 T G 6: 142,511,627 (GRCm39) I327L possibly damaging Het
Kcns2 A T 15: 34,839,242 (GRCm39) I202F probably benign Het
Kif12 T C 4: 63,087,010 (GRCm39) R305G possibly damaging Het
Limch1 A G 5: 67,154,576 (GRCm39) D362G probably damaging Het
Lrba T C 3: 86,687,540 (GRCm39) I2815T probably damaging Het
Lrrtm1 G T 6: 77,221,843 (GRCm39) M433I probably damaging Het
Myh7b A G 2: 155,462,040 (GRCm39) D312G probably damaging Het
Nrxn1 A T 17: 90,344,758 (GRCm39) I382N probably damaging Het
Nudt6 C T 3: 37,459,502 (GRCm39) R161H probably benign Het
Or10w1 T A 19: 13,631,816 (GRCm39) W8R probably damaging Het
Or11g2 A C 14: 50,856,044 (GRCm39) M122L possibly damaging Het
Or4m1 A T 14: 50,558,186 (GRCm39) Y35* probably null Het
Or7e166 C T 9: 19,624,945 (GRCm39) A274V probably benign Het
Pmf1 A T 3: 88,303,369 (GRCm39) V64D probably damaging Het
Pomgnt1 T A 4: 116,009,048 (GRCm39) V29D probably damaging Het
Pramel22 T A 4: 143,380,790 (GRCm39) H411L possibly damaging Het
Pramel26 A T 4: 143,539,378 (GRCm39) D38E probably benign Het
Prex1 C T 2: 166,428,457 (GRCm39) A925T probably benign Het
Pus3 A G 9: 35,476,327 (GRCm39) Y72C probably damaging Het
Rnf20 T C 4: 49,642,176 (GRCm39) S247P probably damaging Het
Rnf213 T A 11: 119,305,396 (GRCm39) D542E probably benign Het
Sidt1 T C 16: 44,063,895 (GRCm39) D786G probably benign Het
Sirt6 A T 10: 81,458,475 (GRCm39) D219E probably damaging Het
Slc36a2 A T 11: 55,072,411 (GRCm39) I67N probably damaging Het
Slc47a1 A G 11: 61,264,248 (GRCm39) F57S probably damaging Het
Spg11 T A 2: 121,924,968 (GRCm39) T756S probably damaging Het
Sptbn1 C A 11: 30,071,591 (GRCm39) R1447L probably damaging Het
Tcf7l2 A G 19: 55,907,387 (GRCm39) M340V probably damaging Het
Thap1 T C 8: 26,652,733 (GRCm39) V157A probably benign Het
Ubash3b G A 9: 40,934,853 (GRCm39) Q354* probably null Het
Ubtd1 G A 19: 42,020,460 (GRCm39) W68* probably null Het
Wdr64 G T 1: 175,620,647 (GRCm39) R793L probably damaging Het
Zbtb24 C T 10: 41,327,432 (GRCm39) T106I probably benign Het
Zbtb26 T C 2: 37,326,337 (GRCm39) N233S possibly damaging Het
Zcchc24 A T 14: 25,757,585 (GRCm39) N99K possibly 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
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
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'- TCCAAGCTGCTCAAGCTAAGACTCC -3'
(R):5'- TTGATACCTCATCAGGGACCCAGG -3'

Sequencing Primer
(F):5'- TGCTCAAGCTAAGACTCCATTCC -3'
(R):5'- CAATTCCAGACCTTAGAGCGGG -3'
Posted On 2013-11-07