Incidental Mutation 'R0490:Pcdhb8'
ID 43466
Institutional Source Beutler Lab
Gene Symbol Pcdhb8
Ensembl Gene ENSMUSG00000045876
Gene Name protocadherin beta 8
Synonyms PcdhbH, Pcdhb5C
MMRRC Submission 038688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0490 (G1)
Quality Score 160
Status Validated
Chromosome 18
Chromosomal Location 37488324-37490663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37489833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 504 (S504P)
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: S504P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: S504P

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,103,338 (GRCm39) Y640N probably damaging Het
Adamts9 T A 6: 92,849,847 (GRCm39) Q402L probably benign Het
Als2cl A G 9: 110,724,414 (GRCm39) T750A probably benign Het
Ank1 C A 8: 23,597,890 (GRCm39) probably benign Het
Ap4e1 T A 2: 126,888,106 (GRCm39) N404K probably damaging Het
Atf7ip G T 6: 136,586,190 (GRCm39) probably benign Het
Bean1 A T 8: 104,941,660 (GRCm39) T169S possibly damaging Het
Bod1l G T 5: 41,979,235 (GRCm39) T693N probably damaging Het
Ccdc81 A T 7: 89,536,970 (GRCm39) V226D probably benign Het
Cd48 A G 1: 171,532,445 (GRCm39) *241W probably null Het
Cdon C A 9: 35,363,978 (GRCm39) S32Y probably damaging Het
Cers3 A G 7: 66,423,438 (GRCm39) S128G possibly damaging Het
Cntn6 T C 6: 104,810,879 (GRCm39) V641A possibly damaging Het
Col6a4 G A 9: 105,890,969 (GRCm39) T1775I probably damaging Het
Dnah8 T C 17: 30,919,393 (GRCm39) V1122A probably benign Het
Dst G T 1: 34,346,449 (GRCm39) G5102* probably null Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Epha5 G T 5: 84,255,833 (GRCm39) probably benign Het
Fscb G A 12: 64,519,661 (GRCm39) P602S unknown Het
Fxn A G 19: 24,254,543 (GRCm39) probably null Het
Gipc2 A G 3: 151,808,291 (GRCm39) L254P possibly damaging Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Gng8 A G 7: 16,628,908 (GRCm39) T14A probably benign Het
Gsdmc3 C T 15: 63,732,099 (GRCm39) G309D possibly damaging Het
Gsr T A 8: 34,161,540 (GRCm39) probably benign Het
Gtdc1 A T 2: 44,525,052 (GRCm39) D152E probably benign Het
Herc1 A G 9: 66,392,281 (GRCm39) D4063G probably damaging Het
Hsdl2 C T 4: 59,612,814 (GRCm39) probably benign Het
Iqgap3 T C 3: 88,021,363 (GRCm39) probably benign Het
Kcnj10 A G 1: 172,197,019 (GRCm39) T178A probably damaging Het
Lama5 T A 2: 179,821,962 (GRCm39) I2958F possibly damaging Het
Lnx1 T A 5: 74,781,008 (GRCm39) probably null Het
Lpl A G 8: 69,349,343 (GRCm39) R290G probably damaging Het
Mamdc4 C T 2: 25,453,593 (GRCm39) R1196K probably benign Het
Mogat2 T C 7: 98,872,351 (GRCm39) S167G probably benign Het
Nek8 T A 11: 78,058,555 (GRCm39) I582F probably benign Het
Notch4 T A 17: 34,801,864 (GRCm39) D1237E probably damaging Het
Or2y8 A G 11: 52,035,493 (GRCm39) I288T probably damaging Het
Or5b104 A G 19: 13,072,176 (GRCm39) Y279H probably damaging Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Or9i14 A G 19: 13,792,219 (GRCm39) L245P probably damaging Het
Pigs T C 11: 78,226,451 (GRCm39) S223P probably damaging Het
Prkch A G 12: 73,806,450 (GRCm39) I566V probably damaging Het
Ptpn22 T C 3: 103,793,495 (GRCm39) S549P probably damaging Het
Rita1 A T 5: 120,749,630 (GRCm39) F28I probably damaging Het
Rpgrip1l A T 8: 92,026,473 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,874,931 (GRCm39) K170E probably benign Het
Spag17 C T 3: 99,889,727 (GRCm39) R199W probably damaging Het
Tas2r116 T C 6: 132,832,984 (GRCm39) V195A probably benign Het
Trav7d-3 C A 14: 52,982,007 (GRCm39) probably benign Het
Trim15 T C 17: 37,177,247 (GRCm39) K138E probably benign Het
Ttn T A 2: 76,539,174 (GRCm39) H34604L probably benign Het
Ttn C T 2: 76,577,876 (GRCm39) R16012K probably damaging Het
Zfp948 T C 17: 21,808,296 (GRCm39) V496A probably benign Het
Zfy2 A T Y: 2,106,620 (GRCm39) S671R possibly damaging Het
Zswim1 T A 2: 164,667,203 (GRCm39) Y152N 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
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
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'- AGAGAGCAACGCTGAGTACAACATC -3'
(R):5'- GCATTGTCATTGTCATCCAGCACC -3'

Sequencing Primer
(F):5'- AGTGCAAGTGTCCGACATC -3'
(R):5'- TTGTCATCCAGCACCACTACG -3'
Posted On 2013-05-23