Incidental Mutation 'R4412:Pcdhb10'
ID 327990
Institutional Source Beutler Lab
Gene Symbol Pcdhb10
Ensembl Gene ENSMUSG00000045657
Gene Name protocadherin beta 10
Synonyms PcdhbJ, Pcdhb5D
MMRRC Submission 041135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4412 (G1)
Quality Score 217
Status Not validated
Chromosome 18
Chromosomal Location 37544727-37547567 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TC to T at 37547194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051126] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91VE5
Predicted Effect probably null
Transcript: ENSMUST00000051126
SMART Domains Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,449,302 (GRCm39) probably benign Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Alpl A G 4: 137,485,939 (GRCm39) I2T possibly damaging Het
Chdh G T 14: 29,753,672 (GRCm39) G194C probably damaging Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Cpne9 A G 6: 113,266,962 (GRCm39) K132E possibly damaging Het
Cyp2b9 T G 7: 25,897,868 (GRCm39) L224R probably damaging Het
Dmxl1 A G 18: 49,981,828 (GRCm39) N153S probably benign Het
Dnah17 T C 11: 117,964,509 (GRCm39) Y2423C probably damaging Het
Dnajc14 G T 10: 128,642,074 (GRCm39) probably benign Het
Eipr1 A T 12: 28,909,372 (GRCm39) D213V probably damaging Het
Fat1 T C 8: 45,476,636 (GRCm39) V1894A probably damaging Het
Flrt2 G A 12: 95,747,047 (GRCm39) V462I probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Glis1 A G 4: 107,491,915 (GRCm39) H593R probably damaging Het
Gpr21 C G 2: 37,407,444 (GRCm39) probably benign Het
Gsdmc3 A G 15: 63,738,645 (GRCm39) M139T probably benign Het
Hydin C T 8: 111,142,368 (GRCm39) T749I probably damaging Het
Ilf3 C T 9: 21,310,856 (GRCm39) P620S possibly damaging Het
Khdc3 A G 9: 73,010,156 (GRCm39) T71A possibly damaging Het
Ms4a12 T C 19: 11,207,807 (GRCm39) N33S probably benign Het
Nisch A G 14: 30,908,615 (GRCm39) probably benign Het
Npr2 G A 4: 43,644,150 (GRCm39) C593Y probably damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or4c1 A G 2: 89,133,684 (GRCm39) I84T probably benign Het
Palld A G 8: 62,140,406 (GRCm39) Y534H probably damaging Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Podnl1 A T 8: 84,857,294 (GRCm39) H301L probably benign Het
Ripk2 A G 4: 16,124,511 (GRCm39) V399A probably benign Het
Rpp30 T A 19: 36,077,655 (GRCm39) N172K possibly damaging Het
Sin3b C T 8: 73,466,407 (GRCm39) A291V probably benign Het
Slc12a6 A T 2: 112,166,233 (GRCm39) Q204L possibly damaging Het
Snx9 C T 17: 5,958,669 (GRCm39) T249M probably damaging Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syne2 T A 12: 76,152,834 (GRCm39) H6674Q probably benign Het
Tyw1 T A 5: 130,364,073 (GRCm39) probably null Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Yme1l1 G A 2: 23,065,199 (GRCm39) R236H 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
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
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
Predicted Primers PCR Primer
(F):5'- TCACGCTGTACTTGGTCATTG -3'
(R):5'- ATGCATACACTTTGACTACAGTGC -3'

Sequencing Primer
(F):5'- ACGCTGTACTTGGTCATTGCTTTG -3'
(R):5'- TCACTTTCTTAAGAGAACCATATTGC -3'
Posted On 2015-07-07