Incidental Mutation 'IGL02813:Pcdhb10'
ID 360654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb10
Ensembl Gene ENSMUSG00000045657
Gene Name protocadherin beta 10
Synonyms PcdhbJ, Pcdhb5D
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02813
Quality Score
Status
Chromosome 18
Chromosomal Location 37544727-37547567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37546815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 630 (S630R)
Ref Sequence ENSEMBL: ENSMUSP00000056420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051126] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91VE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000051126
AA Change: S630R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: S630R

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 5.5e-33 PFAM
CA 155 240 5.59e-23 SMART
CA 264 344 5.17e-27 SMART
CA 367 448 5.59e-23 SMART
CA 472 558 6.62e-25 SMART
CA 588 669 2.03e-11 SMART
Pfam:Cadherin_C_2 686 769 1.5e-26 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: 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
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,096,591 (GRCm39) Q660K possibly damaging Het
Arhgap5 A C 12: 52,563,748 (GRCm39) T240P probably benign Het
Arhgef7 C T 8: 11,850,767 (GRCm39) probably benign Het
Cttnbp2 C A 6: 18,367,537 (GRCm39) V1594F possibly damaging Het
Cyp2a22 G T 7: 26,635,859 (GRCm39) Q235K probably benign Het
Dennd11 C T 6: 40,395,473 (GRCm39) V212I probably benign Het
Dynlt5 A G 4: 102,849,769 (GRCm39) N64S probably damaging Het
Ecm1 G A 3: 95,644,098 (GRCm39) P169S probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Ern1 T C 11: 106,314,251 (GRCm39) D183G probably damaging Het
Gpat2 T C 2: 127,276,375 (GRCm39) V635A possibly damaging Het
Gria1 A G 11: 57,174,410 (GRCm39) N564S probably damaging Het
Grtp1 A C 8: 13,236,945 (GRCm39) I173S possibly damaging Het
Hsd17b4 A G 18: 50,261,415 (GRCm39) probably benign Het
Lrp1b T C 2: 40,569,229 (GRCm39) probably null Het
Mark4 A T 7: 19,181,181 (GRCm39) probably null Het
Mphosph9 T C 5: 124,453,691 (GRCm39) D207G probably benign Het
Mrgprd A G 7: 144,875,251 (GRCm39) M41V probably benign Het
Myo1g T C 11: 6,468,743 (GRCm39) *66W probably null Het
Neto2 C A 8: 86,417,515 (GRCm39) D30Y probably benign Het
Nlrp6 A T 7: 140,503,333 (GRCm39) I450F possibly damaging Het
Nup155 T A 15: 8,159,605 (GRCm39) probably benign Het
Or4c11c A G 2: 88,661,495 (GRCm39) I11M probably benign Het
Rwdd4a T C 8: 47,990,396 (GRCm39) probably null Het
Slc12a7 T A 13: 73,961,795 (GRCm39) probably benign Het
Slc22a20 C T 19: 6,034,886 (GRCm39) V192I probably benign Het
Slc9a2 T A 1: 40,781,829 (GRCm39) S353T probably damaging Het
Srgap3 A G 6: 112,708,441 (GRCm39) F753L probably damaging Het
Tcea1 C T 1: 4,956,979 (GRCm39) T93I probably benign Het
Tecpr2 A T 12: 110,899,626 (GRCm39) S665C probably damaging Het
Tor4a C A 2: 25,084,761 (GRCm39) E381* probably null Het
Vdr A G 15: 97,767,562 (GRCm39) Y143H probably benign Het
Vmn2r91 A C 17: 18,356,348 (GRCm39) T672P possibly damaging Het
Wdr41 A G 13: 95,131,753 (GRCm39) probably null Het
Other mutations in Pcdhb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Pcdhb10 APN 18 37,545,248 (GRCm39) missense probably damaging 0.96
IGL01383:Pcdhb10 APN 18 37,546,328 (GRCm39) missense probably benign 0.14
IGL01765:Pcdhb10 APN 18 37,547,072 (GRCm39) missense probably benign 0.00
IGL02240:Pcdhb10 APN 18 37,545,455 (GRCm39) missense possibly damaging 0.90
IGL02548:Pcdhb10 APN 18 37,545,743 (GRCm39) missense probably benign 0.00
IGL02563:Pcdhb10 APN 18 37,546,126 (GRCm39) missense probably benign 0.26
IGL02598:Pcdhb10 APN 18 37,546,834 (GRCm39) missense possibly damaging 0.89
IGL02711:Pcdhb10 APN 18 37,545,779 (GRCm39) missense possibly damaging 0.56
IGL02893:Pcdhb10 APN 18 37,546,687 (GRCm39) missense probably damaging 1.00
IGL03288:Pcdhb10 APN 18 37,546,358 (GRCm39) missense probably damaging 1.00
IGL03310:Pcdhb10 APN 18 37,545,374 (GRCm39) missense probably damaging 0.97
R0004:Pcdhb10 UTSW 18 37,545,012 (GRCm39) missense probably benign
R0004:Pcdhb10 UTSW 18 37,545,012 (GRCm39) missense probably benign
R0211:Pcdhb10 UTSW 18 37,547,059 (GRCm39) missense probably benign
R0211:Pcdhb10 UTSW 18 37,547,059 (GRCm39) missense probably benign
R0389:Pcdhb10 UTSW 18 37,545,485 (GRCm39) missense probably damaging 1.00
R0443:Pcdhb10 UTSW 18 37,545,485 (GRCm39) missense probably damaging 1.00
R0480:Pcdhb10 UTSW 18 37,546,152 (GRCm39) missense probably damaging 1.00
R1218:Pcdhb10 UTSW 18 37,546,214 (GRCm39) missense probably damaging 1.00
R1448:Pcdhb10 UTSW 18 37,545,556 (GRCm39) missense possibly damaging 0.89
R1737:Pcdhb10 UTSW 18 37,546,009 (GRCm39) missense probably benign 0.01
R2092:Pcdhb10 UTSW 18 37,547,240 (GRCm39) missense probably benign 0.00
R2277:Pcdhb10 UTSW 18 37,545,677 (GRCm39) missense possibly damaging 0.82
R2363:Pcdhb10 UTSW 18 37,547,190 (GRCm39) nonsense probably null
R3826:Pcdhb10 UTSW 18 37,545,470 (GRCm39) missense probably damaging 1.00
R4372:Pcdhb10 UTSW 18 37,546,366 (GRCm39) missense possibly damaging 0.95
R4412:Pcdhb10 UTSW 18 37,547,194 (GRCm39) frame shift probably null
R4760:Pcdhb10 UTSW 18 37,544,995 (GRCm39) missense probably benign 0.05
R4941:Pcdhb10 UTSW 18 37,545,887 (GRCm39) missense probably benign 0.29
R5271:Pcdhb10 UTSW 18 37,546,222 (GRCm39) missense probably benign 0.44
R5643:Pcdhb10 UTSW 18 37,546,219 (GRCm39) missense possibly damaging 0.63
R5851:Pcdhb10 UTSW 18 37,545,811 (GRCm39) missense probably benign 0.00
R6089:Pcdhb10 UTSW 18 37,546,679 (GRCm39) missense possibly damaging 0.91
R6125:Pcdhb10 UTSW 18 37,546,679 (GRCm39) missense possibly damaging 0.91
R6189:Pcdhb10 UTSW 18 37,545,456 (GRCm39) missense probably damaging 0.99
R6414:Pcdhb10 UTSW 18 37,546,898 (GRCm39) missense possibly damaging 0.95
R6731:Pcdhb10 UTSW 18 37,546,529 (GRCm39) missense probably benign 0.02
R6999:Pcdhb10 UTSW 18 37,546,171 (GRCm39) missense probably damaging 1.00
R7019:Pcdhb10 UTSW 18 37,546,056 (GRCm39) missense probably damaging 1.00
R7317:Pcdhb10 UTSW 18 37,546,079 (GRCm39) missense possibly damaging 0.67
R7554:Pcdhb10 UTSW 18 37,544,935 (GRCm39) missense probably benign
R7638:Pcdhb10 UTSW 18 37,545,365 (GRCm39) missense probably benign 0.03
R7710:Pcdhb10 UTSW 18 37,546,654 (GRCm39) nonsense probably null
R7763:Pcdhb10 UTSW 18 37,544,935 (GRCm39) missense not run
R7867:Pcdhb10 UTSW 18 37,546,619 (GRCm39) missense probably benign 0.03
R8269:Pcdhb10 UTSW 18 37,547,062 (GRCm39) missense probably benign 0.09
R8355:Pcdhb10 UTSW 18 37,545,134 (GRCm39) missense probably damaging 1.00
R9265:Pcdhb10 UTSW 18 37,546,553 (GRCm39) missense possibly damaging 0.82
X0024:Pcdhb10 UTSW 18 37,546,051 (GRCm39) missense probably benign 0.12
X0036:Pcdhb10 UTSW 18 37,545,026 (GRCm39) missense probably damaging 1.00
Z1176:Pcdhb10 UTSW 18 37,546,448 (GRCm39) frame shift probably null
Z1177:Pcdhb10 UTSW 18 37,545,596 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18