Incidental Mutation 'IGL02496:Pcdhb6'
ID 295805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Name protocadherin beta 6
Synonyms Pcdhb5B, PcdhbF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL02496
Quality Score
Status
Chromosome 18
Chromosomal Location 37466913-37470491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37468507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 476 (D476G)
Ref Sequence ENSEMBL: ENSMUSP00000058592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]
AlphaFold Q91XZ4
Predicted Effect probably damaging
Transcript: ENSMUST00000061717
AA Change: D476G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: D476G

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 2.7e-33 PFAM
CA 155 240 1.48e-22 SMART
CA 264 344 3.02e-28 SMART
CA 367 448 1.69e-22 SMART
CA 472 558 1.65e-25 SMART
CA 588 669 6.24e-12 SMART
Pfam:Cadherin_C_2 685 768 4.7e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194655
SMART Domains Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678

DomainStartEndE-ValueType
Blast:CA 1 60 2e-11 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Pcdhb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Pcdhb6 APN 18 37,467,277 (GRCm39) missense probably damaging 1.00
IGL02123:Pcdhb6 APN 18 37,468,873 (GRCm39) missense probably damaging 1.00
IGL02491:Pcdhb6 APN 18 37,468,735 (GRCm39) missense probably damaging 1.00
IGL02608:Pcdhb6 APN 18 37,467,747 (GRCm39) missense probably damaging 0.99
IGL03130:Pcdhb6 APN 18 37,468,640 (GRCm39) nonsense probably null
IGL03144:Pcdhb6 APN 18 37,467,459 (GRCm39) missense probably damaging 1.00
IGL03189:Pcdhb6 APN 18 37,469,205 (GRCm39) missense probably damaging 0.98
IGL03203:Pcdhb6 APN 18 37,467,585 (GRCm39) missense possibly damaging 0.95
IGL03388:Pcdhb6 APN 18 37,469,190 (GRCm39) missense probably damaging 0.99
PIT4445001:Pcdhb6 UTSW 18 37,468,300 (GRCm39) missense possibly damaging 0.67
R0571:Pcdhb6 UTSW 18 37,468,167 (GRCm39) missense probably benign 0.01
R0734:Pcdhb6 UTSW 18 37,468,387 (GRCm39) missense probably damaging 0.99
R1727:Pcdhb6 UTSW 18 37,467,640 (GRCm39) missense probably damaging 1.00
R2206:Pcdhb6 UTSW 18 37,468,633 (GRCm39) missense probably benign 0.10
R2207:Pcdhb6 UTSW 18 37,468,633 (GRCm39) missense probably benign 0.10
R2303:Pcdhb6 UTSW 18 37,469,284 (GRCm39) missense probably damaging 1.00
R2401:Pcdhb6 UTSW 18 37,468,222 (GRCm39) missense probably benign 0.35
R3409:Pcdhb6 UTSW 18 37,468,945 (GRCm39) missense probably damaging 1.00
R3411:Pcdhb6 UTSW 18 37,468,945 (GRCm39) missense probably damaging 1.00
R3625:Pcdhb6 UTSW 18 37,469,193 (GRCm39) missense probably damaging 1.00
R3716:Pcdhb6 UTSW 18 37,469,259 (GRCm39) missense probably benign 0.01
R4745:Pcdhb6 UTSW 18 37,468,426 (GRCm39) missense possibly damaging 0.86
R4821:Pcdhb6 UTSW 18 37,467,381 (GRCm39) missense probably damaging 1.00
R5218:Pcdhb6 UTSW 18 37,467,388 (GRCm39) missense possibly damaging 0.95
R5465:Pcdhb6 UTSW 18 37,467,783 (GRCm39) missense probably damaging 0.97
R5522:Pcdhb6 UTSW 18 37,467,402 (GRCm39) missense probably benign
R5556:Pcdhb6 UTSW 18 37,467,442 (GRCm39) missense probably damaging 1.00
R5703:Pcdhb6 UTSW 18 37,467,753 (GRCm39) missense probably benign 0.15
R6154:Pcdhb6 UTSW 18 37,467,966 (GRCm39) missense probably benign 0.00
R6256:Pcdhb6 UTSW 18 37,468,978 (GRCm39) missense probably damaging 0.98
R6304:Pcdhb6 UTSW 18 37,468,974 (GRCm39) nonsense probably null
R6528:Pcdhb6 UTSW 18 37,467,556 (GRCm39) missense probably damaging 1.00
R6883:Pcdhb6 UTSW 18 37,468,198 (GRCm39) missense probably damaging 1.00
R7045:Pcdhb6 UTSW 18 37,469,329 (GRCm39) missense possibly damaging 0.88
R7307:Pcdhb6 UTSW 18 37,468,531 (GRCm39) missense probably benign
R7313:Pcdhb6 UTSW 18 37,468,261 (GRCm39) missense probably damaging 0.99
R7378:Pcdhb6 UTSW 18 37,468,225 (GRCm39) missense probably damaging 1.00
R7555:Pcdhb6 UTSW 18 37,468,332 (GRCm39) missense possibly damaging 0.60
R7606:Pcdhb6 UTSW 18 37,468,659 (GRCm39) missense probably damaging 0.99
R7701:Pcdhb6 UTSW 18 37,467,562 (GRCm39) missense probably damaging 1.00
R7830:Pcdhb6 UTSW 18 37,469,365 (GRCm39) missense probably benign 0.05
R7905:Pcdhb6 UTSW 18 37,467,607 (GRCm39) missense probably benign 0.00
R7982:Pcdhb6 UTSW 18 37,467,273 (GRCm39) nonsense probably null
R8818:Pcdhb6 UTSW 18 37,468,837 (GRCm39) missense probably benign 0.06
R8917:Pcdhb6 UTSW 18 37,468,431 (GRCm39) missense possibly damaging 0.92
R9397:Pcdhb6 UTSW 18 37,469,353 (GRCm39) missense probably benign 0.00
Z1088:Pcdhb6 UTSW 18 37,468,199 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16