Incidental Mutation 'R4292:Pcdhb5'
ID 323138
Institutional Source Beutler Lab
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 # R4292 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37453434-37456966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37455734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 705 (S705T)
Ref Sequence ENSEMBL: ENSMUSP00000077389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078271] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000078271
AA Change: S705T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: S705T

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
Meta Mutation Damage Score 0.1917 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,772,977 (GRCm39) K1232E possibly damaging Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cep68 A T 11: 20,190,079 (GRCm39) V311D probably damaging Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gcn1 G A 5: 115,714,207 (GRCm39) A116T possibly damaging Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Kif18a A T 2: 109,128,471 (GRCm39) I376L probably damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Myh2 A G 11: 67,085,723 (GRCm39) K1855R possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or5b98 G A 19: 12,931,520 (GRCm39) C189Y possibly damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pdss2 A G 10: 43,097,834 (GRCm39) Y26C probably benign Het
Pgm2l1 A G 7: 99,899,508 (GRCm39) T41A probably damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Rrp12 T C 19: 41,861,344 (GRCm39) probably null Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Slco4c1 C G 1: 96,772,381 (GRCm39) probably null Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Tgfb2 T C 1: 186,364,735 (GRCm39) H253R probably damaging Het
Top3b A T 16: 16,701,383 (GRCm39) I232F probably damaging Het
Trim24 G A 6: 37,877,627 (GRCm39) R39H possibly damaging Het
Tsc22d1 T A 14: 76,656,320 (GRCm39) M851K probably benign Het
Ttn A G 2: 76,762,855 (GRCm39) V3268A possibly damaging Het
Unc79 A T 12: 103,149,703 (GRCm39) Q2599L probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign Het
Other mutations in Pcdhb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Pcdhb5 APN 18 37,455,162 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCAAGGACAATGGAGAGCCTC -3'
(R):5'- CCCGTATCCTGAACCATTAGG -3'

Sequencing Primer
(F):5'- ACAATGGAGAGCCTCAGCGC -3'
(R):5'- GGCTTGAGGAATTTGAACTCACC -3'
Posted On 2015-06-20