Incidental Mutation 'IGL01330:Pcdhb8'
ID 74459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb8
Ensembl Gene ENSMUSG00000045876
Gene Name protocadherin beta 8
Synonyms PcdhbH, Pcdhb5C
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01330
Quality Score
Status
Chromosome 18
Chromosomal Location 37488324-37490663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37490631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 770 (I770F)
Ref Sequence ENSEMBL: ENSMUSP00000054371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051163] [ENSMUST00000115661] [ENSMUST00000192867] [ENSMUST00000194544]
AlphaFold Q91XZ2
Predicted Effect probably benign
Transcript: ENSMUST00000051163
AA Change: I770F

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: I770F

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 6.6e-33 PFAM
CA 155 240 7.79e-22 SMART
CA 264 344 3.02e-28 SMART
CA 367 448 1.14e-23 SMART
CA 472 558 9.51e-26 SMART
CA 588 669 5.65e-10 SMART
Pfam:Cadherin_C_2 685 768 1.1e-27 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: ENSMUST00000192867
SMART Domains Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876

DomainStartEndE-ValueType
CA 26 104 7e-18 SMART
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,898,351 (GRCm39) E245G possibly damaging Het
Acap2 T C 16: 30,973,495 (GRCm39) I43V probably damaging Het
Acot11 T C 4: 106,628,681 (GRCm39) T36A probably benign Het
Bsn A G 9: 107,988,112 (GRCm39) probably benign Het
Capza2 T C 6: 17,654,170 (GRCm39) probably null Het
Cerkl A G 2: 79,199,125 (GRCm39) I155T possibly damaging Het
Dclre1b T C 3: 103,710,442 (GRCm39) T490A probably benign Het
Efcab6 G A 15: 83,928,501 (GRCm39) S31L probably benign Het
Faim T A 9: 98,874,588 (GRCm39) M67K probably damaging Het
Frem2 T G 3: 53,562,662 (GRCm39) Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 (GRCm39) V341A possibly damaging Het
Grhpr T C 4: 44,986,375 (GRCm39) F142L probably benign Het
Kif14 T C 1: 136,404,112 (GRCm39) V532A probably damaging Het
Klk1b9 T A 7: 43,627,867 (GRCm39) L55* probably null Het
Kmt2e C A 5: 23,702,946 (GRCm39) P1042Q possibly damaging Het
Mpped1 T A 15: 83,684,320 (GRCm39) I114N probably damaging Het
Mtap C A 4: 89,089,460 (GRCm39) T148K probably damaging Het
Muc16 G A 9: 18,419,803 (GRCm39) A8347V possibly damaging Het
Nhs A T X: 160,624,449 (GRCm39) S967T probably damaging Het
Npas3 A G 12: 54,095,602 (GRCm39) Y344C probably damaging Het
Or51q1 A T 7: 103,629,349 (GRCm39) probably benign Het
Or5an9 T C 19: 12,187,404 (GRCm39) V158A possibly damaging Het
Or8b12c T A 9: 37,715,516 (GRCm39) F103Y probably damaging Het
Osmr A G 15: 6,871,509 (GRCm39) Y303H probably damaging Het
Pde4a C T 9: 21,103,734 (GRCm39) probably benign Het
Prkacb T G 3: 146,457,266 (GRCm39) N79T probably damaging Het
Psd3 A C 8: 68,149,830 (GRCm39) Y1222D probably damaging Het
Rrbp1 T A 2: 143,810,538 (GRCm39) E847D possibly damaging Het
Sbno1 A T 5: 124,530,042 (GRCm39) D912E probably damaging Het
Sgsm3 T A 15: 80,895,053 (GRCm39) probably benign Het
Shcbp1 T C 8: 4,786,372 (GRCm39) T577A probably benign Het
Siglec1 A T 2: 130,925,456 (GRCm39) V335D probably damaging Het
Siglec1 A T 2: 130,916,925 (GRCm39) L1110* probably null Het
Slc4a11 A G 2: 130,529,602 (GRCm39) I335T probably benign Het
Smchd1 A C 17: 71,743,783 (GRCm39) S461A probably benign Het
Spata16 C T 3: 26,968,864 (GRCm39) P415S probably damaging Het
Tdrd12 G A 7: 35,204,459 (GRCm39) S217L possibly damaging Het
Tmem156 C T 5: 65,237,525 (GRCm39) R45H probably benign Het
Vmn2r90 T C 17: 17,953,542 (GRCm39) S569P probably benign Het
Vps13c T A 9: 67,871,390 (GRCm39) V3220E probably damaging Het
Wdr59 T C 8: 112,208,565 (GRCm39) N439S possibly damaging Het
Zfp568 A G 7: 29,721,702 (GRCm39) M215V probably benign Het
Zgrf1 T A 3: 127,377,656 (GRCm39) V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 (GRCm39) D255G possibly damaging Het
Other mutations in Pcdhb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Pcdhb8 APN 18 37,488,526 (GRCm39) missense probably benign 0.00
IGL00574:Pcdhb8 APN 18 37,489,423 (GRCm39) missense probably damaging 1.00
IGL00960:Pcdhb8 APN 18 37,489,026 (GRCm39) missense probably benign 0.28
IGL01103:Pcdhb8 APN 18 37,490,253 (GRCm39) missense probably damaging 1.00
IGL01413:Pcdhb8 APN 18 37,489,029 (GRCm39) missense probably damaging 1.00
IGL01418:Pcdhb8 APN 18 37,489,029 (GRCm39) missense probably damaging 1.00
IGL01608:Pcdhb8 APN 18 37,489,978 (GRCm39) missense probably damaging 1.00
IGL02212:Pcdhb8 APN 18 37,489,465 (GRCm39) missense possibly damaging 0.95
IGL02582:Pcdhb8 APN 18 37,488,427 (GRCm39) missense possibly damaging 0.79
IGL02607:Pcdhb8 APN 18 37,490,634 (GRCm39) missense probably benign 0.00
IGL02882:Pcdhb8 APN 18 37,489,276 (GRCm39) missense possibly damaging 0.95
IGL03005:Pcdhb8 APN 18 37,490,587 (GRCm39) missense probably damaging 1.00
IGL03108:Pcdhb8 APN 18 37,490,299 (GRCm39) missense probably damaging 1.00
PIT4468001:Pcdhb8 UTSW 18 37,489,686 (GRCm39) missense probably damaging 1.00
R0104:Pcdhb8 UTSW 18 37,488,718 (GRCm39) missense probably benign 0.01
R0490:Pcdhb8 UTSW 18 37,489,833 (GRCm39) missense probably damaging 1.00
R0617:Pcdhb8 UTSW 18 37,490,100 (GRCm39) missense probably benign 0.02
R1168:Pcdhb8 UTSW 18 37,489,780 (GRCm39) missense probably benign
R1189:Pcdhb8 UTSW 18 37,489,620 (GRCm39) nonsense probably null
R1232:Pcdhb8 UTSW 18 37,488,828 (GRCm39) missense probably benign 0.28
R1503:Pcdhb8 UTSW 18 37,489,572 (GRCm39) missense probably damaging 1.00
R1576:Pcdhb8 UTSW 18 37,489,756 (GRCm39) missense probably damaging 1.00
R1731:Pcdhb8 UTSW 18 37,488,891 (GRCm39) missense probably damaging 1.00
R1908:Pcdhb8 UTSW 18 37,489,015 (GRCm39) missense possibly damaging 0.84
R1909:Pcdhb8 UTSW 18 37,489,015 (GRCm39) missense possibly damaging 0.84
R2215:Pcdhb8 UTSW 18 37,490,127 (GRCm39) missense probably damaging 0.98
R3080:Pcdhb8 UTSW 18 37,489,219 (GRCm39) missense probably damaging 1.00
R4394:Pcdhb8 UTSW 18 37,489,935 (GRCm39) missense probably damaging 1.00
R4799:Pcdhb8 UTSW 18 37,488,706 (GRCm39) missense probably damaging 1.00
R4845:Pcdhb8 UTSW 18 37,489,771 (GRCm39) missense probably benign 0.43
R4879:Pcdhb8 UTSW 18 37,489,219 (GRCm39) missense probably damaging 1.00
R4941:Pcdhb8 UTSW 18 37,489,059 (GRCm39) missense probably benign 0.03
R5086:Pcdhb8 UTSW 18 37,489,159 (GRCm39) missense probably damaging 1.00
R5416:Pcdhb8 UTSW 18 37,490,008 (GRCm39) missense probably damaging 1.00
R5774:Pcdhb8 UTSW 18 37,489,738 (GRCm39) missense probably damaging 1.00
R5898:Pcdhb8 UTSW 18 37,490,537 (GRCm39) missense possibly damaging 0.92
R5935:Pcdhb8 UTSW 18 37,489,243 (GRCm39) missense probably damaging 1.00
R6191:Pcdhb8 UTSW 18 37,489,279 (GRCm39) missense probably benign
R6228:Pcdhb8 UTSW 18 37,490,037 (GRCm39) missense probably benign 0.05
R6245:Pcdhb8 UTSW 18 37,490,222 (GRCm39) missense possibly damaging 0.80
R6397:Pcdhb8 UTSW 18 37,488,516 (GRCm39) nonsense probably null
R7469:Pcdhb8 UTSW 18 37,489,011 (GRCm39) missense probably damaging 1.00
R7632:Pcdhb8 UTSW 18 37,488,648 (GRCm39) missense probably benign 0.00
R8323:Pcdhb8 UTSW 18 37,488,476 (GRCm39) missense probably benign 0.23
R8735:Pcdhb8 UTSW 18 37,489,975 (GRCm39) missense possibly damaging 0.91
R8841:Pcdhb8 UTSW 18 37,488,699 (GRCm39) missense probably benign 0.26
R8856:Pcdhb8 UTSW 18 37,489,776 (GRCm39) missense probably benign 0.01
R9020:Pcdhb8 UTSW 18 37,489,837 (GRCm39) missense probably damaging 1.00
R9055:Pcdhb8 UTSW 18 37,490,585 (GRCm39) nonsense probably null
R9077:Pcdhb8 UTSW 18 37,489,414 (GRCm39) missense probably damaging 0.99
R9387:Pcdhb8 UTSW 18 37,488,751 (GRCm39) missense probably benign
Posted On 2013-10-07