Incidental Mutation 'PIT4468001:Pcdhb8'
ID 555672
Institutional Source Beutler Lab
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 # PIT4468001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37488324-37490663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37489686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 455 (Y455H)
Ref Sequence ENSEMBL: ENSMUSP00000054371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051163] [ENSMUST00000115661] [ENSMUST00000192867] [ENSMUST00000194544]
AlphaFold Q91XZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000051163
AA Change: Y455H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: Y455H

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
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 (GRCm38) L34F probably damaging Het
Alms1 T C 6: 85,601,701 (GRCm39) probably null Het
Arhgap15 C A 2: 44,133,143 (GRCm39) Q350K probably damaging Het
Bbs1 T A 19: 4,956,190 (GRCm39) H35L probably benign Het
Cep85 T C 4: 133,876,008 (GRCm39) N468S probably damaging Het
Chd8 T C 14: 52,455,338 (GRCm39) I1050V possibly damaging Het
Chd8 A C 14: 52,445,453 (GRCm39) D1709E probably benign Het
Clec9a G A 6: 129,396,597 (GRCm39) probably null Het
Cyp2c70 T A 19: 40,153,806 (GRCm39) D261V probably damaging Het
Deup1 T C 9: 15,475,301 (GRCm39) N420D possibly damaging Het
Dpys T A 15: 39,720,601 (GRCm39) D53V probably damaging Het
Edem1 A G 6: 108,821,828 (GRCm39) E295G probably damaging Het
Farp2 G T 1: 93,456,499 (GRCm39) E61* probably null Het
Fat3 T G 9: 15,907,647 (GRCm39) D2785A probably benign Het
Fbxo30 T A 10: 11,166,700 (GRCm39) M474K possibly damaging Het
Gm13090 C A 4: 151,175,539 (GRCm39) P93Q unknown Het
Gm21976 A T 13: 98,443,535 (GRCm39) R229* probably null Het
Gpr108 A T 17: 57,554,563 (GRCm39) L25Q probably null Het
Hdac9 C A 12: 34,145,933 (GRCm39) V920F unknown Het
Ighv13-2 T C 12: 114,321,593 (GRCm39) S49G probably benign Het
Krt6a T C 15: 101,602,352 (GRCm39) Y111C probably damaging Het
Mib1 T C 18: 10,798,463 (GRCm39) S775P possibly damaging Het
Mki67 A G 7: 135,300,876 (GRCm39) I1386T probably benign Het
Mroh2b A G 15: 4,942,294 (GRCm39) E352G probably damaging Het
Nfya A G 17: 48,702,805 (GRCm39) M61T unknown Het
Ntn4 A G 10: 93,480,587 (GRCm39) T104A probably damaging Het
Numb G A 12: 83,854,921 (GRCm39) T135I probably damaging Het
Or4b12 C A 2: 90,096,564 (GRCm39) C70F probably benign Het
Or52ab4 A C 7: 102,987,807 (GRCm39) E182A probably damaging Het
Or5m5 A T 2: 85,814,792 (GRCm39) T203S probably benign Het
Parpbp A C 10: 87,979,935 (GRCm39) L7R probably benign Het
Pcdhga10 T A 18: 37,880,936 (GRCm39) D232E probably damaging Het
Pcdhga9 T A 18: 37,872,527 (GRCm39) C785* probably null Het
Pkd1l3 A G 8: 110,391,131 (GRCm39) Y1913C possibly damaging Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Ppp1r13b A T 12: 111,805,136 (GRCm39) I350N probably benign Het
Rc3h2 C A 2: 37,289,651 (GRCm39) G387V probably damaging Het
Rfwd3 T C 8: 112,009,352 (GRCm39) H408R probably benign Het
Rpl3l A G 17: 24,954,457 (GRCm39) T173A probably benign Het
Sdad1 T C 5: 92,439,777 (GRCm39) D416G probably damaging Het
Srp72 C A 5: 77,142,053 (GRCm39) T430K probably benign Het
Steap1 C A 5: 5,786,642 (GRCm39) G265V probably damaging Het
Sulf2 A T 2: 165,922,720 (GRCm39) I670N probably benign Het
Tcf7l2 A T 19: 55,730,820 (GRCm39) D16V probably damaging Het
Tmem100 T A 11: 89,926,187 (GRCm39) S5T probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Trak1 T C 9: 121,282,398 (GRCm39) S436P probably benign Het
Ttyh1 T C 7: 4,122,771 (GRCm39) Y40H possibly damaging Het
Ubxn8 T A 8: 34,111,569 (GRCm39) S275C probably benign Het
Umodl1 A G 17: 31,178,252 (GRCm39) Y76C probably damaging Het
Upk3b C T 5: 136,071,861 (GRCm39) T222M probably benign Het
Usp42 T A 5: 143,700,399 (GRCm39) K1208M probably damaging Het
Vmn2r25 A T 6: 123,816,557 (GRCm39) D341E probably benign Het
Vmn2r83 T G 10: 79,313,884 (GRCm39) L164R probably damaging Het
Vwa8 G T 14: 79,420,501 (GRCm39) R1734L probably damaging Het
Zfand2b G T 1: 75,146,476 (GRCm39) R117L probably benign 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
IGL01330:Pcdhb8 APN 18 37,490,631 (GRCm39) missense probably benign 0.12
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
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
Predicted Primers PCR Primer
(F):5'- AGGATGGTGTGTTCAATTCAGAAC -3'
(R):5'- AAACAGCTGCCCGTTGTCTG -3'

Sequencing Primer
(F):5'- GTTCAATTCAGAACGGACTTCC -3'
(R):5'- CTGAGTTGATGGAGATCAGCG -3'
Posted On 2019-06-07