Incidental Mutation 'R2041:Cntnap5c'
ID 224997
Institutional Source Beutler Lab
Gene Symbol Cntnap5c
Ensembl Gene ENSMUSG00000038048
Gene Name contactin associated protein-like 5C
Synonyms
MMRRC Submission 040048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2041 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 58076565-58717350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58505984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 669 (D669E)
Ref Sequence ENSEMBL: ENSMUSP00000075416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076038]
AlphaFold Q0V8T7
Predicted Effect probably benign
Transcript: ENSMUST00000076038
AA Change: D669E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: D669E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,211 (GRCm39) D265E probably damaging Het
2610021A01Rik A G 7: 41,275,403 (GRCm39) R369G possibly damaging Het
Actr3b T C 5: 25,965,128 (GRCm39) probably null Het
Adamts12 A T 15: 11,215,821 (GRCm39) M281L probably damaging Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Akap12 C T 10: 4,306,489 (GRCm39) P1100S probably benign Het
Alox8 T A 11: 69,088,517 (GRCm39) H40L possibly damaging Het
Anks1 T A 17: 28,227,388 (GRCm39) F659L probably damaging Het
Asxl3 G T 18: 22,656,508 (GRCm39) R1506L probably benign Het
Bicd2 A G 13: 49,495,252 (GRCm39) T36A probably benign Het
Ccar1 A T 10: 62,601,827 (GRCm39) L448Q probably damaging Het
Ccdc17 T G 4: 116,456,789 (GRCm39) N497K probably damaging Het
Chek2 T C 5: 110,996,530 (GRCm39) I164T probably damaging Het
Cpsf6 A G 10: 117,195,033 (GRCm39) I482T probably damaging Het
Csf3 C T 11: 98,592,483 (GRCm39) S65L possibly damaging Het
Dlc1 A G 8: 37,049,922 (GRCm39) Y1049H probably damaging Het
Dnah6 T C 6: 73,050,422 (GRCm39) D3048G probably damaging Het
Eif4g3 T A 4: 137,832,617 (GRCm39) probably benign Het
Epb41l4b T C 4: 57,084,070 (GRCm39) K195R probably damaging Het
Epn1 T C 7: 5,086,874 (GRCm39) S41P probably damaging Het
Fam120a C A 13: 49,051,243 (GRCm39) V721L probably benign Het
Fchsd1 T A 18: 38,100,729 (GRCm39) probably null Het
Fer1l6 G A 15: 58,430,155 (GRCm39) G194D probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fyb1 A C 15: 6,674,268 (GRCm39) T635P possibly damaging Het
Gpr153 A G 4: 152,367,810 (GRCm39) S554G probably benign Het
Grm1 A G 10: 10,622,347 (GRCm39) F459L probably damaging Het
H60c C T 10: 3,209,972 (GRCm39) G105D probably damaging Het
Ifnlr1 T A 4: 135,433,148 (GRCm39) M528K possibly damaging Het
Lama4 A T 10: 38,945,987 (GRCm39) D790V probably damaging Het
Mfsd13b T C 7: 120,591,139 (GRCm39) probably benign Het
Mis12 T A 11: 70,916,132 (GRCm39) I55N probably damaging Het
Morn1 T C 4: 155,175,399 (GRCm39) Y103H probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Ndst3 C A 3: 123,465,864 (GRCm39) G36V probably benign Het
Nlrp4a T A 7: 26,149,611 (GRCm39) M406K probably damaging Het
Or4p18 T C 2: 88,232,568 (GRCm39) T237A probably damaging Het
Or51t4 T A 7: 102,598,170 (GRCm39) V156E probably damaging Het
Or5b106 A T 19: 13,124,041 (GRCm39) probably benign Het
Or7g32 A T 9: 19,408,131 (GRCm39) D29V probably benign Het
Or9m1 T C 2: 87,733,141 (GRCm39) N293S probably damaging Het
Pars2 A G 4: 106,510,814 (GRCm39) T199A probably damaging Het
Plcb4 C T 2: 135,780,191 (GRCm39) T172I probably damaging Het
Pomgnt2 A T 9: 121,811,354 (GRCm39) W476R probably benign Het
Psg23 T A 7: 18,348,703 (GRCm39) S35C possibly damaging Het
Pycr3 T A 15: 75,791,144 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rgs2 A G 1: 143,877,960 (GRCm39) F80S probably damaging Het
Sall1 A G 8: 89,759,429 (GRCm39) L225P probably benign Het
Setd3 A G 12: 108,079,651 (GRCm39) I284T possibly damaging Het
Slc4a9 C T 18: 36,663,846 (GRCm39) T290I possibly damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Ube3b T C 5: 114,525,294 (GRCm39) L39P probably damaging Het
Ubr2 C A 17: 47,296,973 (GRCm39) R269L probably damaging Het
Vrk2 A T 11: 26,497,914 (GRCm39) I90K probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp984 A T 4: 147,839,796 (GRCm39) C352S 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 58,411,765 (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'- TCCTGTGTACTATGGATGACCC -3'
(R):5'- TGAGTACCCCATATCAGTTACCAAG -3'

Sequencing Primer
(F):5'- TGGATGACCCAATGTTTATGTATTC -3'
(R):5'- CCACTTCTCCAATGACTCTAG -3'
Posted On 2014-08-25