Incidental Mutation 'R6737:Pcdhb5'
ID 530281
Institutional Source Beutler Lab
Gene Symbol Pcdhb5
Ensembl Gene ENSMUSG00000063687
Gene Name protocadherin beta 5
Synonyms PcdhbE, Pcdhb4A
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6737 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37453434-37456966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37455723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 701 (L701H)
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: L701H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: L701H

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Eif2ak4 TGG TG 2: 118,292,749 (GRCm39) probably null Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Prep A T 10: 44,973,591 (GRCm39) K233I possibly damaging Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Sh3bp2 A G 5: 34,719,818 (GRCm39) Y609C probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Wfdc2 A T 2: 164,405,362 (GRCm39) K88* probably null Het
Ylpm1 C A 12: 85,077,620 (GRCm39) H1448Q probably damaging Het
Zc3h14 A G 12: 98,751,305 (GRCm39) K667E probably damaging 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
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
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'- CAAGGACAATGGAGAGCCTC -3'
(R):5'- TCCCGTATCCTGAACCATTAGG -3'

Sequencing Primer
(F):5'- ACAATGGAGAGCCTCAGCGC -3'
(R):5'- GGCTTGAGGAATTTGAACTCACC -3'
Posted On 2018-08-01