Incidental Mutation 'IGL01622:Pcdhb1'
ID278617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb1
Ensembl Gene ENSMUSG00000051663
Gene Nameprotocadherin beta 1
SynonymsPcdhbA
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01622
Quality Score
Status
Chromosome18
Chromosomal Location37264938-37267525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37266313 bp
ZygosityHeterozygous
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]
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: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in Pcdhb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Pcdhb1 APN 18 37267342 missense probably benign 0.06
IGL01623:Pcdhb1 APN 18 37266313 missense possibly damaging 0.73
IGL01663:Pcdhb1 APN 18 37267133 missense possibly damaging 0.83
IGL01665:Pcdhb1 APN 18 37267397 missense probably benign 0.01
IGL01780:Pcdhb1 APN 18 37266522 missense probably damaging 1.00
IGL02121:Pcdhb1 APN 18 37265785 missense probably benign 0.06
IGL02468:Pcdhb1 APN 18 37266178 missense probably benign 0.21
IGL02602:Pcdhb1 APN 18 37266796 missense probably damaging 1.00
K3955:Pcdhb1 UTSW 18 37265973 missense probably damaging 1.00
R0242:Pcdhb1 UTSW 18 37266735 missense probably benign 0.17
R0242:Pcdhb1 UTSW 18 37266735 missense probably benign 0.17
R0329:Pcdhb1 UTSW 18 37267024 missense possibly damaging 0.59
R0627:Pcdhb1 UTSW 18 37265721 missense probably damaging 1.00
R0848:Pcdhb1 UTSW 18 37267422 missense probably benign 0.00
R1187:Pcdhb1 UTSW 18 37265544 missense probably damaging 1.00
R1290:Pcdhb1 UTSW 18 37265230 missense possibly damaging 0.54
R1928:Pcdhb1 UTSW 18 37266180 nonsense probably null
R1957:Pcdhb1 UTSW 18 37265707 missense probably damaging 1.00
R2897:Pcdhb1 UTSW 18 37266463 missense probably damaging 1.00
R2898:Pcdhb1 UTSW 18 37266463 missense probably damaging 1.00
R3037:Pcdhb1 UTSW 18 37265113 missense probably damaging 1.00
R4193:Pcdhb1 UTSW 18 37267146 missense probably damaging 0.99
R4291:Pcdhb1 UTSW 18 37265417 missense probably damaging 1.00
R4308:Pcdhb1 UTSW 18 37266661 missense probably benign 0.00
R4332:Pcdhb1 UTSW 18 37265530 missense probably damaging 1.00
R4606:Pcdhb1 UTSW 18 37265528 nonsense probably null
R4637:Pcdhb1 UTSW 18 37265749 missense possibly damaging 0.95
R5159:Pcdhb1 UTSW 18 37266363 missense possibly damaging 0.89
R5207:Pcdhb1 UTSW 18 37266462 missense probably damaging 1.00
R5211:Pcdhb1 UTSW 18 37266651 missense probably benign 0.06
R5273:Pcdhb1 UTSW 18 37265713 missense probably benign 0.23
R5335:Pcdhb1 UTSW 18 37267255 missense probably benign 0.00
R5398:Pcdhb1 UTSW 18 37266154 missense probably damaging 1.00
R5452:Pcdhb1 UTSW 18 37265758 missense possibly damaging 0.94
R5837:Pcdhb1 UTSW 18 37265827 missense possibly damaging 0.57
R5882:Pcdhb1 UTSW 18 37267177 missense probably benign 0.05
R5947:Pcdhb1 UTSW 18 37266673 missense possibly damaging 0.74
R6109:Pcdhb1 UTSW 18 37265253 missense possibly damaging 0.69
R7052:Pcdhb1 UTSW 18 37266529 missense probably damaging 1.00
R7082:Pcdhb1 UTSW 18 37266991 missense probably damaging 0.99
R7137:Pcdhb1 UTSW 18 37267392 missense possibly damaging 0.69
R7229:Pcdhb1 UTSW 18 37266687 missense probably damaging 1.00
T0970:Pcdhb1 UTSW 18 37265973 missense probably damaging 1.00
Posted On2015-04-16