Incidental Mutation 'R7162:Pcdhb5'
ID 557690
Institutional Source Beutler Lab
Gene Symbol Pcdhb5
Ensembl Gene ENSMUSG00000063687
Gene Name protocadherin beta 5
Synonyms PcdhbE, Pcdhb4A
MMRRC Submission 045261-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R7162 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37453434-37456966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37454739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 373 (D373G)
Ref Sequence ENSEMBL: ENSMUSP00000077389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078271] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ5
Predicted Effect probably benign
Transcript: ENSMUST00000078271
AA Change: D373G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: D373G

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 0.8650 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (85/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C T 1: 87,055,471 (GRCm39) T506I unknown Het
Ank1 T C 8: 23,622,370 (GRCm39) W1640R possibly damaging Het
Atp2a2 A G 5: 122,627,387 (GRCm39) M126T probably benign Het
Bptf A T 11: 106,934,457 (GRCm39) probably null Het
Brat1 T C 5: 140,696,004 (GRCm39) V125A probably benign Het
Cables1 T C 18: 12,059,423 (GRCm39) probably null Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Cacna1b A C 2: 24,590,034 (GRCm39) I558S probably benign Het
Ccdc166 A G 15: 75,853,044 (GRCm39) S308P probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfhr2 A G 1: 139,741,264 (GRCm39) V237A probably benign Het
Clybl C A 14: 122,608,732 (GRCm39) S108* probably null Het
Cubn A G 2: 13,347,309 (GRCm39) Y2070H probably damaging Het
Cyp8b1 A G 9: 121,744,777 (GRCm39) F185S probably damaging Het
Dennd2c T A 3: 103,063,423 (GRCm39) V620D probably damaging Het
Dis3l2 T C 1: 86,971,752 (GRCm39) F597L possibly damaging Het
Eif3f G A 7: 108,539,938 (GRCm39) R282H probably benign Het
Ell C A 8: 71,031,559 (GRCm39) R86S possibly damaging Het
Eppk1 A G 15: 75,990,809 (GRCm39) V2024A possibly damaging Het
Exoc6 T C 19: 37,565,566 (GRCm39) I214T probably damaging Het
Faim2 A G 15: 99,419,048 (GRCm39) probably null Het
Gli1 A G 10: 127,168,306 (GRCm39) S516P probably benign Het
Gm18596 A T 10: 77,578,034 (GRCm39) S147T unknown Het
Gm19965 A G 1: 116,750,095 (GRCm39) Y592C unknown Het
Gng12 T C 6: 66,994,285 (GRCm39) S36P unknown Het
Gramd2b G A 18: 56,618,529 (GRCm39) probably null Het
Hmcn1 T A 1: 150,624,744 (GRCm39) T1054S probably benign Het
Ifngr1 A G 10: 19,485,101 (GRCm39) T367A probably benign Het
Il21r G T 7: 125,231,483 (GRCm39) V304L probably benign Het
Ino80d G A 1: 63,104,894 (GRCm39) T394M probably damaging Het
Itfg2 C T 6: 128,387,546 (GRCm39) V380M probably damaging Het
Kcna5 C T 6: 126,510,806 (GRCm39) V441I possibly damaging Het
Kcp T A 6: 29,497,199 (GRCm39) probably null Het
Kdf1 C T 4: 133,257,229 (GRCm39) T375I unknown Het
Klk1b1 A T 7: 43,618,671 (GRCm39) D16V probably damaging Het
Krtap5-4 A C 7: 141,857,335 (GRCm39) T2P unknown Het
Lamtor1 A G 7: 101,555,243 (GRCm39) D13G probably benign Het
Lrp10 T C 14: 54,703,163 (GRCm39) V72A possibly damaging Het
Lrrc1 C A 9: 77,339,472 (GRCm39) A503S probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Myo5b C G 18: 74,828,498 (GRCm39) L717V probably benign Het
Myoz3 T A 18: 60,709,485 (GRCm39) R225S probably damaging Het
Myrf A G 19: 10,196,010 (GRCm39) F335L possibly damaging Het
Nfib A C 4: 82,268,677 (GRCm39) S292A probably damaging Het
Notch3 G T 17: 32,365,423 (GRCm39) H1096Q probably damaging Het
Nt5c1a A G 4: 123,107,898 (GRCm39) R194G probably benign Het
Or10d3 A G 9: 39,461,525 (GRCm39) I214T probably damaging Het
Or5a1 A G 19: 12,097,501 (GRCm39) F192L possibly damaging Het
Parp4 A G 14: 56,886,333 (GRCm39) E1804G unknown Het
Pcdhac2 A T 18: 37,278,840 (GRCm39) I607L probably benign Het
Pcf11 A T 7: 92,313,221 (GRCm39) V154E probably damaging Het
Pdia3 T G 2: 121,260,002 (GRCm39) D180E probably benign Het
Piezo2 C A 18: 63,257,780 (GRCm39) V313F possibly damaging Het
Pik3ap1 C A 19: 41,309,965 (GRCm39) A452S probably benign Het
Plb1 A G 5: 32,507,007 (GRCm39) K1194R probably benign Het
Pld3 A C 7: 27,231,899 (GRCm39) W431G probably damaging Het
Plekha3 T C 2: 76,523,110 (GRCm39) probably null Het
Ppm1f G T 16: 16,732,057 (GRCm39) R169L probably damaging Het
Ppp2r3d A G 9: 124,439,673 (GRCm38) V60A Het
Prop1 T A 11: 50,842,881 (GRCm39) D102V probably damaging Het
Rbm27 G A 18: 42,447,092 (GRCm39) G446R unknown Het
Rc3h2 C A 2: 37,299,617 (GRCm39) V138L possibly damaging Het
Rorc G A 3: 94,284,915 (GRCm39) probably null Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sart3 A G 5: 113,900,896 (GRCm39) Y181H probably damaging Het
Sbpl A T 17: 24,172,439 (GRCm39) M160K possibly damaging Het
Sh3gl3 A G 7: 81,933,350 (GRCm39) S238G probably benign Het
Slc22a30 A G 19: 8,314,081 (GRCm39) probably null Het
Slc3a1 A T 17: 85,371,442 (GRCm39) R665* probably null Het
Stk32a C A 18: 43,430,649 (GRCm39) Y186* probably null Het
Stxbp6 T C 12: 44,949,663 (GRCm39) N89D probably benign Het
Svep1 A G 4: 58,070,262 (GRCm39) F2508S possibly damaging Het
Tas1r1 A G 4: 152,116,695 (GRCm39) V313A possibly damaging Het
Tmem81 T C 1: 132,435,355 (GRCm39) Y54H probably damaging Het
Tmtc1 T C 6: 148,172,985 (GRCm39) N582S probably damaging Het
Top2b T C 14: 16,416,653 (GRCm38) S1138P probably benign Het
Trim24 T A 6: 37,942,456 (GRCm39) N989K possibly damaging Het
Trim72 T A 7: 127,606,821 (GRCm39) M145K probably benign Het
Ttll9 T A 2: 152,831,523 (GRCm39) S154T probably damaging Het
Tusc3 T C 8: 39,593,741 (GRCm39) V286A probably benign Het
Vat1l C A 8: 114,963,518 (GRCm39) H185N probably damaging Het
Vmn1r209 A T 13: 22,990,128 (GRCm39) D187E probably damaging Het
Vmn2r87 T C 10: 130,313,416 (GRCm39) N450S probably benign Het
Wdr7 T A 18: 63,857,210 (GRCm39) D95E possibly damaging Het
Zfp937 C T 2: 150,081,439 (GRCm39) H490Y probably benign Het
Zfp974 A T 7: 27,610,944 (GRCm39) H260Q possibly 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
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
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'- TTACCATGTAGAAATTGAGGCCAC -3'
(R):5'- GTTGTCGTTAATGTCGGACACC -3'

Sequencing Primer
(F):5'- CACAGATGGAGGAGGCCTTTCTG -3'
(R):5'- AATGTCGGACACCTTCACTG -3'
Posted On 2019-06-26