Incidental Mutation 'R0244:Cntnap5c'
ID 38020
Institutional Source Beutler Lab
Gene Symbol Cntnap5c
Ensembl Gene ENSMUSG00000038048
Gene Name contactin associated protein-like 5C
Synonyms
MMRRC Submission 038482-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0244 (G1)
Quality Score 219
Status Validated
Chromosome 17
Chromosomal Location 58076565-58717350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58409163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 467 (D467V)
Ref Sequence ENSEMBL: ENSMUSP00000075416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076038]
AlphaFold Q0V8T7
Predicted Effect probably damaging
Transcript: ENSMUST00000076038
AA Change: D467V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: D467V

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 0.3496 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (88/89)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,806,172 (GRCm39) C434* probably null Het
Adprhl1 A G 8: 13,292,391 (GRCm39) probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Arel1 T C 12: 84,967,467 (GRCm39) T786A probably damaging Het
Arhgap26 A G 18: 39,496,184 (GRCm39) K117R probably benign Het
Atp6v0b C T 4: 117,741,819 (GRCm39) G204D probably damaging Het
Bace2 T A 16: 97,237,973 (GRCm39) probably null Het
Bltp2 T A 11: 78,177,317 (GRCm39) probably null Het
Camk4 G A 18: 33,312,678 (GRCm39) probably null Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cep152 T C 2: 125,406,134 (GRCm39) E1466G probably benign Het
Ces3b T C 8: 105,819,267 (GRCm39) F441S probably damaging Het
Cfap52 T C 11: 67,817,208 (GRCm39) T562A possibly damaging Het
Clca3a2 C A 3: 144,519,659 (GRCm39) M238I possibly damaging Het
Col7a1 T A 9: 108,801,252 (GRCm39) probably null Het
Cstf1 A G 2: 172,219,630 (GRCm39) N247S possibly damaging Het
Dffb G T 4: 154,059,072 (GRCm39) N68K probably benign Het
Dnaaf10 T C 11: 17,179,851 (GRCm39) L284P probably damaging Het
Duox2 C T 2: 122,122,341 (GRCm39) G595S probably benign Het
Eftud2 T A 11: 102,755,551 (GRCm39) I228F probably damaging Het
Elmo3 T C 8: 106,035,803 (GRCm39) V578A probably benign Het
Elp2 A G 18: 24,764,528 (GRCm39) D625G possibly damaging Het
Ep300 C T 15: 81,524,329 (GRCm39) P1386S unknown Het
Fam120b A G 17: 15,637,899 (GRCm39) D610G probably damaging Het
Fastk A T 5: 24,647,176 (GRCm39) probably benign Het
Fbxl6 A G 15: 76,421,391 (GRCm39) S252P probably damaging Het
Fbxo43 T C 15: 36,161,939 (GRCm39) K423E probably damaging Het
Filip1 T A 9: 79,726,744 (GRCm39) E625V possibly damaging Het
Fkbp9 T A 6: 56,833,363 (GRCm39) Y283* probably null Het
Gigyf2 T A 1: 87,306,737 (GRCm39) D142E possibly damaging Het
Gm10142 T C 10: 77,551,848 (GRCm39) probably null Het
Golga5 T C 12: 102,442,447 (GRCm39) V262A probably benign Het
Hectd4 T C 5: 121,467,668 (GRCm39) V2539A probably benign Het
Ica1 G T 6: 8,653,632 (GRCm39) S335* probably null Het
Itga1 A T 13: 115,143,433 (GRCm39) probably benign Het
Itgb1 T C 8: 129,444,166 (GRCm39) probably benign Het
Itpr1 G A 6: 108,450,550 (GRCm39) V1960I probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kprp C T 3: 92,732,718 (GRCm39) V111I probably benign Het
Lamc3 T C 2: 31,830,733 (GRCm39) I1490T probably damaging Het
Lcp1 A T 14: 75,464,441 (GRCm39) D554V possibly damaging Het
Lgi3 A G 14: 70,772,138 (GRCm39) T228A probably benign Het
Lipa A T 19: 34,478,941 (GRCm39) F260I probably damaging Het
Lrriq1 C T 10: 103,051,634 (GRCm39) E373K probably damaging Het
Map6 G A 7: 98,986,043 (GRCm39) G649D probably benign Het
Mccc1 A G 3: 36,044,196 (GRCm39) probably null Het
Mical3 A T 6: 120,934,683 (GRCm39) S1799T probably benign Het
Mmp23 T A 4: 155,736,589 (GRCm39) T151S probably damaging Het
Myo1d T A 11: 80,565,534 (GRCm39) N401I probably damaging Het
Myo9b T A 8: 71,774,457 (GRCm39) S323T probably damaging Het
Nbn G T 4: 15,979,353 (GRCm39) W446L probably benign Het
Nedd1 A T 10: 92,552,127 (GRCm39) probably benign Het
Ngef C A 1: 87,415,684 (GRCm39) probably benign Het
Nup153 A T 13: 46,847,412 (GRCm39) N672K probably benign Het
Or10d1b T A 9: 39,613,469 (GRCm39) I199F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or4e2 T C 14: 52,687,969 (GRCm39) V33A probably benign Het
Or4f57 T C 2: 111,791,361 (GRCm39) N19S probably benign Het
Pakap T G 4: 57,710,177 (GRCm39) V374G possibly damaging Het
Pdlim3 C A 8: 46,361,497 (GRCm39) probably benign Het
Pmfbp1 G A 8: 110,268,305 (GRCm39) E951K probably damaging Het
Pop1 T A 15: 34,516,037 (GRCm39) C548* probably null Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ptpdc1 A T 13: 48,739,456 (GRCm39) N658K probably benign Het
Ptprk A C 10: 28,082,221 (GRCm39) E63D possibly damaging Het
Rtf1 C T 2: 119,563,358 (GRCm39) R712W probably damaging Het
Samd7 A C 3: 30,805,222 (GRCm39) T2P probably benign Het
Sft2d1 A G 17: 8,538,254 (GRCm39) T52A probably benign Het
Slc25a26 A G 6: 94,487,814 (GRCm39) H91R probably damaging Het
Slc5a4a A G 10: 76,024,986 (GRCm39) E621G possibly damaging Het
Slf1 A T 13: 77,274,751 (GRCm39) L28* probably null Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorcs2 G A 5: 36,554,897 (GRCm39) probably benign Het
Tacc2 T C 7: 130,353,555 (GRCm39) probably benign Het
Tas2r140 A G 6: 133,032,290 (GRCm39) V156A possibly damaging Het
Terf2ip C A 8: 112,744,796 (GRCm39) T371K possibly damaging Het
Tifa C T 3: 127,590,537 (GRCm39) L103F probably damaging Het
Tmco3 A G 8: 13,342,037 (GRCm39) N104D probably damaging Het
Tmem259 T A 10: 79,814,797 (GRCm39) D240V probably damaging Het
Trim60 C T 8: 65,453,700 (GRCm39) R183H probably benign Het
Trps1 T C 15: 50,528,139 (GRCm39) N725D probably damaging Het
Ttn C T 2: 76,645,150 (GRCm39) V12902M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Unc79 A G 12: 103,079,150 (GRCm39) K1772E probably damaging Het
Vwde C T 6: 13,193,125 (GRCm39) V405I probably benign Het
Wdr18 T A 10: 79,802,242 (GRCm39) D290E probably damaging Het
Wwc2 G A 8: 48,353,756 (GRCm39) A126V probably benign Het
Zfp882 A T 8: 72,667,367 (GRCm39) I105F possibly damaging Het
Zfp942 A T 17: 22,147,553 (GRCm39) C359S 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
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
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'- TCCATTTGCCAGTATCATTTTGAGCAGT -3'
(R):5'- AGCTTGGCATGGATACAAGGATAACC -3'

Sequencing Primer
(F):5'- TCTGTAGCCACCTATCATCATATTAG -3'
(R):5'- catgcaCAGCTATGGGGAG -3'
Posted On 2013-05-23