Incidental Mutation 'R6414:Pcdhb10'
ID 514892
Institutional Source Beutler Lab
Gene Symbol Pcdhb10
Ensembl Gene ENSMUSG00000045657
Gene Name protocadherin beta 10
Synonyms PcdhbJ, Pcdhb5D
MMRRC Submission 044556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6414 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37544727-37547567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37546898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 658 (H658P)
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: H658P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: H658P

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 0.6569 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Alpk1 T C 3: 127,473,858 (GRCm39) D715G probably benign Het
Atg101 T A 15: 101,188,341 (GRCm39) C149S probably benign Het
Atp2c1 A T 9: 105,343,855 (GRCm39) I84N probably damaging Het
Ceacam20 C A 7: 19,710,056 (GRCm39) A360E probably damaging Het
Chd3 A T 11: 69,243,371 (GRCm39) probably null Het
Clcc1 G A 3: 108,584,167 (GRCm39) C517Y possibly damaging Het
Col6a5 T C 9: 105,769,465 (GRCm39) probably null Het
Ctnna3 T C 10: 64,096,644 (GRCm39) V394A probably benign Het
Ctsll3 A G 13: 60,948,113 (GRCm39) F188S probably damaging Het
Cyth4 T C 15: 78,492,346 (GRCm39) V125A probably damaging Het
Ddx43 G A 9: 78,308,218 (GRCm39) V131I probably benign Het
Elp4 A G 2: 105,734,788 (GRCm39) S16P possibly damaging Het
Espl1 T A 15: 102,223,995 (GRCm39) V1182E probably damaging Het
Fhod3 T C 18: 25,223,935 (GRCm39) S1094P possibly damaging Het
Fmo6 A T 1: 162,748,014 (GRCm39) V350D probably damaging Het
Frem1 A G 4: 82,858,773 (GRCm39) F1545S probably damaging Het
Gata3 T A 2: 9,863,245 (GRCm39) H423L possibly damaging Het
Golt1a A T 1: 133,248,032 (GRCm39) M87L probably damaging Het
Gpr171 A T 3: 59,005,544 (GRCm39) V77E probably damaging Het
Hectd2 A G 19: 36,596,186 (GRCm39) D757G probably benign Het
Hmmr A G 11: 40,606,694 (GRCm39) probably null Het
Il31ra A G 13: 112,660,441 (GRCm39) V635A possibly damaging Het
Lama1 T C 17: 68,053,905 (GRCm39) probably null Het
Ltbp4 G A 7: 27,010,140 (GRCm39) P1140L probably damaging Het
Macf1 A G 4: 123,386,988 (GRCm39) L1210P possibly damaging Het
Meox2 A T 12: 37,158,830 (GRCm39) M1L probably benign Het
Mex3d A G 10: 80,217,205 (GRCm39) S671P unknown Het
Mrgprb2 C T 7: 48,202,129 (GRCm39) V199I probably benign Het
Mroh9 A T 1: 162,902,271 (GRCm39) V114E probably damaging Het
Muc5b A G 7: 141,412,834 (GRCm39) K1927E unknown Het
Or4f52 A C 2: 111,061,497 (GRCm39) probably null Het
Or6c35 T A 10: 129,169,578 (GRCm39) I276K probably benign Het
Otogl C T 10: 107,617,911 (GRCm39) C1734Y probably damaging Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh15 T A 10: 74,021,258 (GRCm39) N162K probably damaging Het
Pgm2l1 G T 7: 99,904,747 (GRCm39) A160S possibly damaging Het
Prkag2 T A 5: 25,305,178 (GRCm39) probably benign Het
Rap1gap2 A G 11: 74,296,616 (GRCm39) L457P probably damaging Het
Rasef C T 4: 73,658,818 (GRCm39) V463M probably benign Het
Rb1 T C 14: 73,520,414 (GRCm39) S42G unknown Het
Reep3 C A 10: 66,875,356 (GRCm39) V36F probably damaging Het
Rhcg A G 7: 79,248,716 (GRCm39) probably null Het
Sbno1 T C 5: 124,533,994 (GRCm39) S661G probably benign Het
Slc25a3 T G 10: 90,958,190 (GRCm39) Q50P possibly damaging Het
Slc2a13 T A 15: 91,228,008 (GRCm39) I395F probably benign Het
Slc6a5 C T 7: 49,559,991 (GRCm39) probably benign Het
Snta1 G C 2: 154,219,987 (GRCm39) T391S possibly damaging Het
Spata7 T C 12: 98,629,479 (GRCm39) probably null Het
Stx17 A G 4: 48,158,809 (GRCm39) probably null Het
Terf2 A T 8: 107,803,486 (GRCm39) S365T probably benign Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trim8 A T 19: 46,491,346 (GRCm39) H155L probably benign Het
Wipi2 T A 5: 142,641,693 (GRCm39) V83D probably damaging Het
Zbtb47 T G 9: 121,592,725 (GRCm39) D348E probably benign Het
Zfp316 C A 5: 143,240,639 (GRCm39) R460L possibly damaging Het
Zfp799 C T 17: 33,039,259 (GRCm39) V336M probably damaging Het
Zfp947 A T 17: 22,365,395 (GRCm39) I93N probably damaging Het
Zranb3 A G 1: 127,968,694 (GRCm39) Y74H probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCAGGTTACTTAGTCACCAAG -3'
(R):5'- GCTTCATCCCAACGAAGAGC -3'

Sequencing Primer
(F):5'- AGAATGCCTGGCTGTCATTC -3'
(R):5'- TTCATCCCAACGAAGAGCAGAAC -3'
Posted On 2018-05-04