Incidental Mutation 'R7632:Pcdhb8'
ID 589727
Institutional Source Beutler Lab
Gene Symbol Pcdhb8
Ensembl Gene ENSMUSG00000045876
Gene Name protocadherin beta 8
Synonyms PcdhbH, Pcdhb5C
MMRRC Submission 045720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7632 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37488324-37490663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37488648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 109 (I109L)
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: I109L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: I109L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,211,236 (GRCm39) D924G probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
B3gnt8 A G 7: 25,327,860 (GRCm39) I97V possibly damaging Het
Bach1 A G 16: 87,517,031 (GRCm39) D524G probably benign Het
Caprin2 T C 6: 148,784,954 (GRCm39) S107G probably damaging Het
Ccnb1 A G 13: 100,918,209 (GRCm39) I207T probably benign Het
Cdh11 T C 8: 103,400,515 (GRCm39) D151G probably damaging Het
Cdh9 A G 15: 16,851,115 (GRCm39) probably null Het
Cep83 A T 10: 94,586,502 (GRCm39) R433W probably damaging Het
Cspg4b C A 13: 113,457,420 (GRCm39) S1155R Het
D3Ertd751e A G 3: 41,708,163 (GRCm39) E100G probably benign Het
Dchs2 C T 3: 83,255,357 (GRCm39) A2351V probably benign Het
Dhx40 T C 11: 86,690,263 (GRCm39) T253A probably benign Het
Dqx1 A G 6: 83,036,680 (GRCm39) D228G probably benign Het
Dync1h1 T C 12: 110,627,327 (GRCm39) M4002T probably benign Het
Flcn C T 11: 59,686,625 (GRCm39) W376* probably null Het
Flnc A T 6: 29,446,984 (GRCm39) Y1037F probably damaging Het
Fut11 T A 14: 20,745,096 (GRCm39) V9E probably benign Het
Fv1 T A 4: 147,954,392 (GRCm39) N319K possibly damaging Het
Ghrhr G T 6: 55,361,727 (GRCm39) G298V probably benign Het
Gm5800 T A 14: 51,953,905 (GRCm39) probably null Het
Grin2b A G 6: 135,709,553 (GRCm39) M1331T probably benign Het
Hyou1 A G 9: 44,292,433 (GRCm39) probably null Het
Igkv1-117 C A 6: 68,098,792 (GRCm39) Q114K probably damaging Het
Igkv4-68 A G 6: 69,282,048 (GRCm39) V41A possibly damaging Het
Inpp4b A G 8: 82,772,968 (GRCm39) N754S probably damaging Het
Isl2 G A 9: 55,448,440 (GRCm39) probably null Het
Kat2a G A 11: 100,599,422 (GRCm39) Q523* probably null Het
Lypd3 T C 7: 24,337,865 (GRCm39) F77S possibly damaging Het
Map4k2 T C 19: 6,394,084 (GRCm39) L297P probably benign Het
Naca T C 10: 127,876,375 (GRCm39) V469A unknown Het
Notch3 C T 17: 32,377,480 (GRCm39) V199I probably benign Het
Or4k44 T C 2: 111,368,521 (GRCm39) I38V possibly damaging Het
Or5b119 T C 19: 13,456,795 (GRCm39) M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,598,212 (GRCm39) probably null Het
Pde2a A G 7: 101,133,801 (GRCm39) D104G possibly damaging Het
Phip A G 9: 82,785,243 (GRCm39) V824A probably benign Het
Plekhg4 T C 8: 106,106,782 (GRCm39) Y853H probably damaging Het
Plod1 T C 4: 148,011,481 (GRCm39) K248R probably damaging Het
Plxnd1 A T 6: 115,953,600 (GRCm39) Y656N probably benign Het
Pogz G A 3: 94,763,517 (GRCm39) probably null Het
Ppp1r3e T A 14: 55,114,526 (GRCm39) S79C probably damaging Het
Pprc1 T A 19: 46,060,721 (GRCm39) D1595E probably damaging Het
Ptprq A G 10: 107,547,783 (GRCm39) V205A probably benign Het
Rad51ap2 T C 12: 11,507,116 (GRCm39) V346A possibly damaging Het
Rgs12 T A 5: 35,122,934 (GRCm39) L239H probably damaging Het
Rrp8 T C 7: 105,385,727 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scaf1 A T 7: 44,656,503 (GRCm39) V792D unknown Het
Scrn2 G T 11: 96,923,968 (GRCm39) R284L possibly damaging Het
Sgsm1 T A 5: 113,423,948 (GRCm39) Q461L possibly damaging Het
Slc18b1 A G 10: 23,702,080 (GRCm39) T434A probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,702 (GRCm39) D122E probably damaging Het
Srebf2 G T 15: 82,069,497 (GRCm39) V680L probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,155,544 (GRCm39) V5M probably benign Het
Tfg A G 16: 56,532,997 (GRCm39) V54A possibly damaging Het
Tmem237 C T 1: 59,156,060 (GRCm39) C30Y probably benign Het
Tmem245 T C 4: 56,916,787 (GRCm39) K444R probably benign Het
Trim25 T G 11: 88,906,602 (GRCm39) L446R probably null Het
Usp37 T C 1: 74,507,533 (GRCm39) T495A probably benign Het
Vmn1r94 T G 7: 19,901,696 (GRCm39) T203P probably damaging Het
Ywhah T A 5: 33,184,010 (GRCm39) M71K 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
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
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'- AACGGAGAGTGGCTACTTGG -3'
(R):5'- ACTGTGTAGTTCTGAACAGCG -3'

Sequencing Primer
(F):5'- TGGCTAACCTGGCACAAGATCTG -3'
(R):5'- GAACAGCGTTGCTCCCTATG -3'
Posted On 2019-10-24