Incidental Mutation 'R0004:Pcdhb10'
ID 15436
Institutional Source Beutler Lab
Gene Symbol Pcdhb10
Ensembl Gene ENSMUSG00000045657
Gene Name protocadherin beta 10
Synonyms PcdhbJ, Pcdhb5D
MMRRC Submission 038300-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R0004 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 37544727-37547567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37545012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 29 (D29E)
Ref Sequence ENSEMBL: ENSMUSP00000056420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051126] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91VE5
Predicted Effect probably benign
Transcript: ENSMUST00000051126
AA Change: D29E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: D29E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 72.9%
  • 3x: 51.7%
  • 10x: 14.4%
  • 20x: 3.8%
Validation Efficiency 93% (26/28)
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T C 1: 38,308,807 (GRCm39) D376G possibly damaging Het
Akap12 A T 10: 4,303,218 (GRCm39) E9D possibly damaging Het
Chia1 G T 3: 106,036,325 (GRCm39) A302S probably damaging Het
Cnp T C 11: 100,467,633 (GRCm39) F192S probably damaging Het
Garre1 A T 7: 33,955,853 (GRCm39) F412Y probably damaging Het
Hbegf A G 18: 36,640,559 (GRCm39) V166A probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Washc5 A G 15: 59,239,316 (GRCm39) M149T probably damaging 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
IGL02813:Pcdhb10 APN 18 37,546,815 (GRCm39) missense possibly damaging 0.94
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
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 2012-12-21