Incidental Mutation 'IGL02496:Pcdhb6'
ID295805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Nameprotocadherin beta 6
SynonymsPcdhb5B, PcdhbF
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02496
Quality Score
Status
Chromosome18
Chromosomal Location37333921-37337674 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37335454 bp
ZygosityHeterozygous
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]
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: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Csn1s1 C T 5: 87,677,594 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hfm1 T C 5: 106,901,761 S445G probably benign Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Mmp20 A G 9: 7,654,041 R321G probably damaging Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr2 A G 9: 92,289,663 I103V probably benign Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc22a23 T A 13: 34,344,485 I105F possibly damaging Het
Slc25a20 T A 9: 108,682,400 I221N probably damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Pcdhb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Pcdhb6 APN 18 37334224 missense probably damaging 1.00
IGL02123:Pcdhb6 APN 18 37335820 missense probably damaging 1.00
IGL02491:Pcdhb6 APN 18 37335682 missense probably damaging 1.00
IGL02608:Pcdhb6 APN 18 37334694 missense probably damaging 0.99
IGL03130:Pcdhb6 APN 18 37335587 nonsense probably null
IGL03144:Pcdhb6 APN 18 37334406 missense probably damaging 1.00
IGL03189:Pcdhb6 APN 18 37336152 missense probably damaging 0.98
IGL03203:Pcdhb6 APN 18 37334532 missense possibly damaging 0.95
IGL03388:Pcdhb6 APN 18 37336137 missense probably damaging 0.99
PIT4445001:Pcdhb6 UTSW 18 37335247 missense possibly damaging 0.67
R0571:Pcdhb6 UTSW 18 37335114 missense probably benign 0.01
R0734:Pcdhb6 UTSW 18 37335334 missense probably damaging 0.99
R1727:Pcdhb6 UTSW 18 37334587 missense probably damaging 1.00
R2206:Pcdhb6 UTSW 18 37335580 missense probably benign 0.10
R2207:Pcdhb6 UTSW 18 37335580 missense probably benign 0.10
R2303:Pcdhb6 UTSW 18 37336231 missense probably damaging 1.00
R2401:Pcdhb6 UTSW 18 37335169 missense probably benign 0.35
R3409:Pcdhb6 UTSW 18 37335892 missense probably damaging 1.00
R3411:Pcdhb6 UTSW 18 37335892 missense probably damaging 1.00
R3625:Pcdhb6 UTSW 18 37336140 missense probably damaging 1.00
R3716:Pcdhb6 UTSW 18 37336206 missense probably benign 0.01
R4745:Pcdhb6 UTSW 18 37335373 missense possibly damaging 0.86
R4821:Pcdhb6 UTSW 18 37334328 missense probably damaging 1.00
R5218:Pcdhb6 UTSW 18 37334335 missense possibly damaging 0.95
R5465:Pcdhb6 UTSW 18 37334730 missense probably damaging 0.97
R5522:Pcdhb6 UTSW 18 37334349 missense probably benign
R5556:Pcdhb6 UTSW 18 37334389 missense probably damaging 1.00
R5703:Pcdhb6 UTSW 18 37334700 missense probably benign 0.15
R6154:Pcdhb6 UTSW 18 37334913 missense probably benign 0.00
R6256:Pcdhb6 UTSW 18 37335925 missense probably damaging 0.98
R6304:Pcdhb6 UTSW 18 37335921 nonsense probably null
R6528:Pcdhb6 UTSW 18 37334503 missense probably damaging 1.00
R6883:Pcdhb6 UTSW 18 37335145 missense probably damaging 1.00
R7045:Pcdhb6 UTSW 18 37336276 missense possibly damaging 0.88
R7307:Pcdhb6 UTSW 18 37335478 missense probably benign
R7313:Pcdhb6 UTSW 18 37335208 missense probably damaging 0.99
R7378:Pcdhb6 UTSW 18 37335172 missense probably damaging 1.00
R7555:Pcdhb6 UTSW 18 37335279 missense possibly damaging 0.60
R7606:Pcdhb6 UTSW 18 37335606 missense probably damaging 0.99
R7701:Pcdhb6 UTSW 18 37334509 missense probably damaging 1.00
R7830:Pcdhb6 UTSW 18 37336312 missense probably benign 0.05
R7905:Pcdhb6 UTSW 18 37334554 missense probably benign 0.00
R7988:Pcdhb6 UTSW 18 37334554 missense probably benign 0.00
Z1088:Pcdhb6 UTSW 18 37335146 missense probably damaging 1.00
Posted On2015-04-16