Incidental Mutation 'R6189:Pcdhb10'
ID 502425
Institutional Source Beutler Lab
Gene Symbol Pcdhb10
Ensembl Gene ENSMUSG00000045657
Gene Name protocadherin beta 10
Synonyms PcdhbJ, Pcdhb5D
MMRRC Submission 044329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37544727-37547567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37545456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 177 (H177Q)
Ref Sequence ENSEMBL: ENSMUSP00000056420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051126] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91VE5
Predicted Effect probably damaging
Transcript: ENSMUST00000051126
AA Change: H177Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: H177Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Abca8a T C 11: 109,921,710 (GRCm39) D1448G probably damaging Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha5 A T 5: 84,385,399 (GRCm39) F311I probably damaging Het
Erbb4 T A 1: 68,083,075 (GRCm39) M1059L probably benign Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Itgam A G 7: 127,711,676 (GRCm39) M764V probably benign Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Lrp4 T C 2: 91,305,579 (GRCm39) V283A possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nup42 G T 5: 24,380,452 (GRCm39) G149V probably damaging Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown 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
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
Predicted Primers PCR Primer
(F):5'- TGTGCTGCACTTCCAGATC -3'
(R):5'- TGATGTCCACGACTTCAATGTG -3'

Sequencing Primer
(F):5'- TGGAAAACCCTGTGCAGTTC -3'
(R):5'- CACGACTTCAATGTGAACTTCGGTG -3'
Posted On 2018-02-27