Incidental Mutation 'IGL01330:Pcdhb8'
ID74459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb8
Ensembl Gene ENSMUSG00000045876
Gene Nameprotocadherin beta 8
SynonymsPcdhb5C, PcdhbH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01330
Quality Score
Status
Chromosome18
Chromosomal Location37355121-37358604 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37357578 bp
ZygosityHeterozygous
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]
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: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Capza2 T C 6: 17,654,171 probably null Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Grhpr T C 4: 44,986,375 F142L probably benign Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Klk1b9 T A 7: 43,978,443 L55* probably null Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mpped1 T A 15: 83,800,119 I114N probably damaging Het
Mtap C A 4: 89,171,223 T148K probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Rrbp1 T A 2: 143,968,618 E847D possibly damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Pcdhb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Pcdhb8 APN 18 37355473 missense probably benign 0.00
IGL00574:Pcdhb8 APN 18 37356370 missense probably damaging 1.00
IGL00960:Pcdhb8 APN 18 37355973 missense probably benign 0.28
IGL01103:Pcdhb8 APN 18 37357200 missense probably damaging 1.00
IGL01413:Pcdhb8 APN 18 37355976 missense probably damaging 1.00
IGL01418:Pcdhb8 APN 18 37355976 missense probably damaging 1.00
IGL01608:Pcdhb8 APN 18 37356925 missense probably damaging 1.00
IGL02212:Pcdhb8 APN 18 37356412 missense possibly damaging 0.95
IGL02582:Pcdhb8 APN 18 37355374 missense possibly damaging 0.79
IGL02607:Pcdhb8 APN 18 37357581 missense probably benign 0.00
IGL02882:Pcdhb8 APN 18 37356223 missense possibly damaging 0.95
IGL03005:Pcdhb8 APN 18 37357534 missense probably damaging 1.00
IGL03108:Pcdhb8 APN 18 37357246 missense probably damaging 1.00
PIT4468001:Pcdhb8 UTSW 18 37356633 missense probably damaging 1.00
R0104:Pcdhb8 UTSW 18 37355665 missense probably benign 0.01
R0490:Pcdhb8 UTSW 18 37356780 missense probably damaging 1.00
R0617:Pcdhb8 UTSW 18 37357047 missense probably benign 0.02
R1168:Pcdhb8 UTSW 18 37356727 missense probably benign
R1189:Pcdhb8 UTSW 18 37356567 nonsense probably null
R1232:Pcdhb8 UTSW 18 37355775 missense probably benign 0.28
R1503:Pcdhb8 UTSW 18 37356519 missense probably damaging 1.00
R1576:Pcdhb8 UTSW 18 37356703 missense probably damaging 1.00
R1731:Pcdhb8 UTSW 18 37355838 missense probably damaging 1.00
R1908:Pcdhb8 UTSW 18 37355962 missense possibly damaging 0.84
R1909:Pcdhb8 UTSW 18 37355962 missense possibly damaging 0.84
R2215:Pcdhb8 UTSW 18 37357074 missense probably damaging 0.98
R3080:Pcdhb8 UTSW 18 37356166 missense probably damaging 1.00
R4394:Pcdhb8 UTSW 18 37356882 missense probably damaging 1.00
R4799:Pcdhb8 UTSW 18 37355653 missense probably damaging 1.00
R4845:Pcdhb8 UTSW 18 37356718 missense probably benign 0.43
R4879:Pcdhb8 UTSW 18 37356166 missense probably damaging 1.00
R4941:Pcdhb8 UTSW 18 37356006 missense probably benign 0.03
R5086:Pcdhb8 UTSW 18 37356106 missense probably damaging 1.00
R5416:Pcdhb8 UTSW 18 37356955 missense probably damaging 1.00
R5774:Pcdhb8 UTSW 18 37356685 missense probably damaging 1.00
R5898:Pcdhb8 UTSW 18 37357484 missense possibly damaging 0.92
R5935:Pcdhb8 UTSW 18 37356190 missense probably damaging 1.00
R6191:Pcdhb8 UTSW 18 37356226 missense probably benign
R6228:Pcdhb8 UTSW 18 37356984 missense probably benign 0.05
R6245:Pcdhb8 UTSW 18 37357169 missense possibly damaging 0.80
R6397:Pcdhb8 UTSW 18 37355463 nonsense probably null
R7469:Pcdhb8 UTSW 18 37355958 missense probably damaging 1.00
R7632:Pcdhb8 UTSW 18 37355595 missense probably benign 0.00
Posted On2013-10-07