Incidental Mutation 'RF010:Cntnap5c'
ID 603168
Institutional Source Beutler Lab
Gene Symbol Cntnap5c
Ensembl Gene ENSMUSG00000038048
Gene Name contactin associated protein-like 5C
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # RF010 (G1)
Quality Score 156.008
Status Not validated
Chromosome 17
Chromosomal Location 58076565-58717350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58593790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 710 (W710R)
Ref Sequence ENSEMBL: ENSMUSP00000075416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076038]
AlphaFold Q0V8T7
Predicted Effect probably damaging
Transcript: ENSMUST00000076038
AA Change: W710R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: W710R

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG 17: 35,879,473 (GRCm39) probably benign Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,666 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Ifi213 C G 1: 173,409,719 (GRCm39) D462H probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Mep1a G A 17: 43,797,126 (GRCm39) H314Y probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Nusap1 ACGTTAGCAGTGAGGAGCAA ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA 2: 119,458,065 (GRCm39) probably benign Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sbp ACAAAGATGCTGACAACAAAGATGCTGACA ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA 17: 24,164,325 (GRCm39) probably benign Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,816 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Usp47 T A 7: 111,692,145 (GRCm39) V869E probably damaging Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y 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
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
Predicted Primers PCR Primer
(F):5'- TCACCAATCTGTAACTATGCCC -3'
(R):5'- AATCCCTATTGAATTTGGTGTGTGC -3'

Sequencing Primer
(F):5'- ACATTTTACATGTACACCTGCATG -3'
(R):5'- TGTGTGCTTATTTCTCTCTTAGTAAC -3'
Posted On 2019-12-04