Incidental Mutation 'IGL00504:Pcdhb5'
ID 3353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb5
Ensembl Gene ENSMUSG00000063687
Gene Name protocadherin beta 5
Synonyms PcdhbE, Pcdhb4A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL00504
Quality Score
Status
Chromosome 18
Chromosomal Location 37453434-37456966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37455162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 514 (A514E)
Ref Sequence ENSEMBL: ENSMUSP00000077389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078271] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000078271
AA Change: A514E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: A514E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CA 46 130 1.55e0 SMART
CA 154 239 2.42e-18 SMART
CA 263 344 1.27e-26 SMART
CA 367 448 1.14e-23 SMART
CA 472 558 2.38e-26 SMART
CA 588 669 7.06e-11 SMART
Pfam:Cadherin_C_2 686 769 3.1e-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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atpaf2 T C 11: 60,296,629 (GRCm39) D168G probably damaging Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Cela3b A T 4: 137,150,592 (GRCm39) V202E probably damaging Het
Col3a1 A G 1: 45,386,295 (GRCm39) D145G probably damaging Het
Cpsf6 A T 10: 117,202,034 (GRCm39) probably benign Het
Dock5 A G 14: 68,024,338 (GRCm39) probably benign Het
Folh1 T G 7: 86,383,351 (GRCm39) R465S probably damaging Het
Garem1 T A 18: 21,281,714 (GRCm39) Q214L probably damaging Het
Ldb2 T A 5: 44,699,026 (GRCm39) probably null Het
Lmln A G 16: 32,903,435 (GRCm39) N283S probably benign Het
Mical2 A G 7: 111,981,352 (GRCm39) N508S possibly damaging Het
Obsl1 C A 1: 75,467,518 (GRCm39) G1419C probably benign Het
Pafah1b3 T A 7: 24,995,614 (GRCm39) T115S probably benign Het
Prl8a8 G T 13: 27,693,593 (GRCm39) T144K probably damaging Het
Rasgrp1 T A 2: 117,136,272 (GRCm39) K105* probably null Het
Rin1 T C 19: 5,102,438 (GRCm39) S316P probably benign Het
Serpinb3b A T 1: 107,085,411 (GRCm39) F110Y probably benign Het
Sh3bgrl2 C T 9: 83,459,607 (GRCm39) P55L probably benign Het
Slc10a2 T A 8: 5,141,668 (GRCm39) S239C probably damaging Het
Slc10a2 C A 8: 5,141,667 (GRCm39) S239I probably benign Het
Slc6a15 T C 10: 103,225,002 (GRCm39) V30A probably benign Het
Sncaip T G 18: 53,018,035 (GRCm39) probably null Het
Tcerg1l T C 7: 137,811,533 (GRCm39) R554G probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tor1a A G 2: 30,857,202 (GRCm39) I116T probably damaging Het
Tprg1l A G 4: 154,242,890 (GRCm39) S188P probably damaging Het
Tut4 G A 4: 108,407,925 (GRCm39) R1398H probably damaging Het
Vcan A T 13: 89,839,394 (GRCm39) V2050E possibly damaging Het
Zfp280d T C 9: 72,229,853 (GRCm39) C362R probably damaging Het
Other mutations in Pcdhb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Pcdhb5 APN 18 37,454,036 (GRCm39) missense probably benign 0.42
IGL00896:Pcdhb5 APN 18 37,455,838 (GRCm39) splice site probably null
IGL01385:Pcdhb5 APN 18 37,455,267 (GRCm39) missense probably benign 0.00
IGL01619:Pcdhb5 APN 18 37,455,992 (GRCm39) missense probably damaging 1.00
IGL01712:Pcdhb5 APN 18 37,454,306 (GRCm39) missense probably damaging 1.00
IGL01716:Pcdhb5 APN 18 37,454,075 (GRCm39) missense probably benign
IGL01719:Pcdhb5 APN 18 37,454,075 (GRCm39) missense probably benign
IGL01720:Pcdhb5 APN 18 37,454,075 (GRCm39) missense probably benign
IGL01723:Pcdhb5 APN 18 37,454,075 (GRCm39) missense probably benign
IGL01724:Pcdhb5 APN 18 37,454,075 (GRCm39) missense probably benign
IGL01839:Pcdhb5 APN 18 37,454,502 (GRCm39) missense probably damaging 0.98
IGL01884:Pcdhb5 APN 18 37,454,387 (GRCm39) missense probably benign 0.00
IGL01962:Pcdhb5 APN 18 37,454,093 (GRCm39) missense probably damaging 1.00
IGL02088:Pcdhb5 APN 18 37,455,012 (GRCm39) missense probably benign 0.11
IGL02299:Pcdhb5 APN 18 37,453,943 (GRCm39) missense probably benign
IGL02444:Pcdhb5 APN 18 37,454,103 (GRCm39) missense probably benign 0.01
IGL03372:Pcdhb5 APN 18 37,453,713 (GRCm39) missense probably benign 0.22
R0034:Pcdhb5 UTSW 18 37,455,137 (GRCm39) missense probably damaging 1.00
R0047:Pcdhb5 UTSW 18 37,454,321 (GRCm39) missense possibly damaging 0.87
R0179:Pcdhb5 UTSW 18 37,455,612 (GRCm39) missense probably damaging 1.00
R0466:Pcdhb5 UTSW 18 37,455,596 (GRCm39) missense probably damaging 1.00
R0471:Pcdhb5 UTSW 18 37,454,359 (GRCm39) nonsense probably null
R0565:Pcdhb5 UTSW 18 37,453,820 (GRCm39) missense possibly damaging 0.91
R0646:Pcdhb5 UTSW 18 37,454,675 (GRCm39) missense probably benign
R1014:Pcdhb5 UTSW 18 37,455,303 (GRCm39) missense probably damaging 1.00
R1617:Pcdhb5 UTSW 18 37,454,455 (GRCm39) nonsense probably null
R1676:Pcdhb5 UTSW 18 37,453,805 (GRCm39) missense probably benign 0.01
R1774:Pcdhb5 UTSW 18 37,455,725 (GRCm39) missense probably damaging 0.99
R1826:Pcdhb5 UTSW 18 37,454,522 (GRCm39) nonsense probably null
R1854:Pcdhb5 UTSW 18 37,455,393 (GRCm39) missense possibly damaging 0.94
R2355:Pcdhb5 UTSW 18 37,455,169 (GRCm39) missense probably benign
R4290:Pcdhb5 UTSW 18 37,455,734 (GRCm39) missense possibly damaging 0.90
R4292:Pcdhb5 UTSW 18 37,455,734 (GRCm39) missense possibly damaging 0.90
R4293:Pcdhb5 UTSW 18 37,455,734 (GRCm39) missense possibly damaging 0.90
R4294:Pcdhb5 UTSW 18 37,455,734 (GRCm39) missense possibly damaging 0.90
R4295:Pcdhb5 UTSW 18 37,455,734 (GRCm39) missense possibly damaging 0.90
R4391:Pcdhb5 UTSW 18 37,455,789 (GRCm39) missense possibly damaging 0.88
R4411:Pcdhb5 UTSW 18 37,455,050 (GRCm39) missense possibly damaging 0.80
R4480:Pcdhb5 UTSW 18 37,453,805 (GRCm39) missense probably benign 0.43
R4852:Pcdhb5 UTSW 18 37,455,524 (GRCm39) missense probably benign 0.04
R5121:Pcdhb5 UTSW 18 37,454,170 (GRCm39) missense probably benign 0.11
R5133:Pcdhb5 UTSW 18 37,453,943 (GRCm39) missense probably benign
R5630:Pcdhb5 UTSW 18 37,454,208 (GRCm39) missense possibly damaging 0.88
R5833:Pcdhb5 UTSW 18 37,454,155 (GRCm39) missense probably damaging 0.99
R5896:Pcdhb5 UTSW 18 37,455,732 (GRCm39) nonsense probably null
R5942:Pcdhb5 UTSW 18 37,453,838 (GRCm39) nonsense probably null
R5945:Pcdhb5 UTSW 18 37,454,523 (GRCm39) missense probably benign 0.08
R5970:Pcdhb5 UTSW 18 37,454,826 (GRCm39) missense probably damaging 1.00
R6045:Pcdhb5 UTSW 18 37,454,628 (GRCm39) missense probably damaging 1.00
R6054:Pcdhb5 UTSW 18 37,454,133 (GRCm39) missense probably damaging 0.98
R6147:Pcdhb5 UTSW 18 37,453,779 (GRCm39) missense probably damaging 1.00
R6152:Pcdhb5 UTSW 18 37,455,886 (GRCm39) nonsense probably null
R6193:Pcdhb5 UTSW 18 37,455,080 (GRCm39) missense probably damaging 1.00
R6397:Pcdhb5 UTSW 18 37,454,558 (GRCm39) missense probably benign 0.08
R6505:Pcdhb5 UTSW 18 37,453,933 (GRCm39) missense probably benign 0.00
R6608:Pcdhb5 UTSW 18 37,454,876 (GRCm39) missense probably damaging 0.98
R6737:Pcdhb5 UTSW 18 37,455,723 (GRCm39) missense probably damaging 1.00
R7146:Pcdhb5 UTSW 18 37,454,409 (GRCm39) missense probably damaging 1.00
R7162:Pcdhb5 UTSW 18 37,454,739 (GRCm39) missense probably benign 0.16
R7584:Pcdhb5 UTSW 18 37,455,425 (GRCm39) missense possibly damaging 0.90
R8214:Pcdhb5 UTSW 18 37,454,636 (GRCm39) missense probably benign 0.37
R8327:Pcdhb5 UTSW 18 37,453,953 (GRCm39) missense probably benign 0.00
R8676:Pcdhb5 UTSW 18 37,454,129 (GRCm39) missense probably benign 0.01
R9234:Pcdhb5 UTSW 18 37,453,695 (GRCm39) missense probably benign
R9424:Pcdhb5 UTSW 18 37,454,120 (GRCm39) missense probably damaging 1.00
R9505:Pcdhb5 UTSW 18 37,454,664 (GRCm39) missense possibly damaging 0.87
R9635:Pcdhb5 UTSW 18 37,454,510 (GRCm39) missense probably benign 0.06
Posted On 2012-04-20