Incidental Mutation 'IGL01622:Pcdhb1'
ID 278617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb1
Ensembl Gene ENSMUSG00000051663
Gene Name protocadherin beta 1
Synonyms PcdhbA
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL01622
Quality Score
Status
Chromosome 18
Chromosomal Location 37397991-37400578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37399366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 439 (E439G)
Ref Sequence ENSEMBL: ENSMUSP00000057519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y08
Predicted Effect possibly damaging
Transcript: ENSMUST00000052366
AA Change: E439G

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: E439G

DomainStartEndE-ValueType
CA 45 131 1.04e-1 SMART
CA 155 240 1.23e-19 SMART
CA 264 345 8.4e-27 SMART
CA 369 450 5.31e-15 SMART
CA 474 560 6.27e-26 SMART
CA 590 671 6.05e-10 SMART
Pfam:Cadherin_C_2 687 772 4.7e-18 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Pcdhb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Pcdhb1 APN 18 37,400,395 (GRCm39) missense probably benign 0.06
IGL01623:Pcdhb1 APN 18 37,399,366 (GRCm39) missense possibly damaging 0.73
IGL01663:Pcdhb1 APN 18 37,400,186 (GRCm39) missense possibly damaging 0.83
IGL01665:Pcdhb1 APN 18 37,400,450 (GRCm39) missense probably benign 0.01
IGL01780:Pcdhb1 APN 18 37,399,575 (GRCm39) missense probably damaging 1.00
IGL02121:Pcdhb1 APN 18 37,398,838 (GRCm39) missense probably benign 0.06
IGL02468:Pcdhb1 APN 18 37,399,231 (GRCm39) missense probably benign 0.21
IGL02602:Pcdhb1 APN 18 37,399,849 (GRCm39) missense probably damaging 1.00
K3955:Pcdhb1 UTSW 18 37,399,026 (GRCm39) missense probably damaging 1.00
R0242:Pcdhb1 UTSW 18 37,399,788 (GRCm39) missense probably benign 0.17
R0242:Pcdhb1 UTSW 18 37,399,788 (GRCm39) missense probably benign 0.17
R0329:Pcdhb1 UTSW 18 37,400,077 (GRCm39) missense possibly damaging 0.59
R0627:Pcdhb1 UTSW 18 37,398,774 (GRCm39) missense probably damaging 1.00
R0848:Pcdhb1 UTSW 18 37,400,475 (GRCm39) missense probably benign 0.00
R1187:Pcdhb1 UTSW 18 37,398,597 (GRCm39) missense probably damaging 1.00
R1290:Pcdhb1 UTSW 18 37,398,283 (GRCm39) missense possibly damaging 0.54
R1928:Pcdhb1 UTSW 18 37,399,233 (GRCm39) nonsense probably null
R1957:Pcdhb1 UTSW 18 37,398,760 (GRCm39) missense probably damaging 1.00
R2897:Pcdhb1 UTSW 18 37,399,516 (GRCm39) missense probably damaging 1.00
R2898:Pcdhb1 UTSW 18 37,399,516 (GRCm39) missense probably damaging 1.00
R3037:Pcdhb1 UTSW 18 37,398,166 (GRCm39) missense probably damaging 1.00
R4193:Pcdhb1 UTSW 18 37,400,199 (GRCm39) missense probably damaging 0.99
R4291:Pcdhb1 UTSW 18 37,398,470 (GRCm39) missense probably damaging 1.00
R4308:Pcdhb1 UTSW 18 37,399,714 (GRCm39) missense probably benign 0.00
R4332:Pcdhb1 UTSW 18 37,398,583 (GRCm39) missense probably damaging 1.00
R4606:Pcdhb1 UTSW 18 37,398,581 (GRCm39) nonsense probably null
R4637:Pcdhb1 UTSW 18 37,398,802 (GRCm39) missense possibly damaging 0.95
R5159:Pcdhb1 UTSW 18 37,399,416 (GRCm39) missense possibly damaging 0.89
R5207:Pcdhb1 UTSW 18 37,399,515 (GRCm39) missense probably damaging 1.00
R5211:Pcdhb1 UTSW 18 37,399,704 (GRCm39) missense probably benign 0.06
R5273:Pcdhb1 UTSW 18 37,398,766 (GRCm39) missense probably benign 0.23
R5335:Pcdhb1 UTSW 18 37,400,308 (GRCm39) missense probably benign 0.00
R5398:Pcdhb1 UTSW 18 37,399,207 (GRCm39) missense probably damaging 1.00
R5452:Pcdhb1 UTSW 18 37,398,811 (GRCm39) missense possibly damaging 0.94
R5837:Pcdhb1 UTSW 18 37,398,880 (GRCm39) missense possibly damaging 0.57
R5882:Pcdhb1 UTSW 18 37,400,230 (GRCm39) missense probably benign 0.05
R5947:Pcdhb1 UTSW 18 37,399,726 (GRCm39) missense possibly damaging 0.74
R6109:Pcdhb1 UTSW 18 37,398,306 (GRCm39) missense possibly damaging 0.69
R7052:Pcdhb1 UTSW 18 37,399,582 (GRCm39) missense probably damaging 1.00
R7082:Pcdhb1 UTSW 18 37,400,044 (GRCm39) missense probably damaging 0.99
R7137:Pcdhb1 UTSW 18 37,400,445 (GRCm39) missense possibly damaging 0.69
R7229:Pcdhb1 UTSW 18 37,399,740 (GRCm39) missense probably damaging 1.00
R7392:Pcdhb1 UTSW 18 37,398,171 (GRCm39) missense possibly damaging 0.95
R7993:Pcdhb1 UTSW 18 37,400,044 (GRCm39) missense probably damaging 1.00
R8704:Pcdhb1 UTSW 18 37,399,402 (GRCm39) missense possibly damaging 0.51
R9498:Pcdhb1 UTSW 18 37,398,516 (GRCm39) missense probably damaging 0.99
R9703:Pcdhb1 UTSW 18 37,399,019 (GRCm39) missense probably damaging 1.00
R9757:Pcdhb1 UTSW 18 37,400,302 (GRCm39) missense probably benign 0.24
T0970:Pcdhb1 UTSW 18 37,399,026 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16