Incidental Mutation 'R7082:Pcdhb1'
ID 549652
Institutional Source Beutler Lab
Gene Symbol Pcdhb1
Ensembl Gene ENSMUSG00000051663
Gene Name protocadherin beta 1
Synonyms PcdhbA
MMRRC Submission 045176-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7082 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37397991-37400578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37400044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 665 (D665G)
Ref Sequence ENSEMBL: ENSMUSP00000057519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y08
Predicted Effect probably damaging
Transcript: ENSMUST00000052366
AA Change: D665G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: D665G

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
Meta Mutation Damage Score 0.6447 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (88/88)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,260 (GRCm39) N109Y unknown Het
A430005L14Rik C T 4: 154,044,221 (GRCm39) R11W probably damaging Het
Aadacl2 T A 3: 59,932,306 (GRCm39) S274T probably damaging Het
Ahctf1 T C 1: 179,602,898 (GRCm39) R887G probably benign Het
Aox4 G T 1: 58,263,352 (GRCm39) R158L possibly damaging Het
Atp10a T C 7: 58,308,567 (GRCm39) I122T probably damaging Het
Batf2 G T 19: 6,221,405 (GRCm39) A72S possibly damaging Het
Bltp3a G T 17: 28,109,039 (GRCm39) R1086L probably damaging Het
Bptf T C 11: 106,977,573 (GRCm39) D749G probably benign Het
Cacybp A G 1: 160,031,229 (GRCm39) Y200H probably damaging Het
Cdc40 A T 10: 40,743,869 (GRCm39) V76D probably benign Het
Cdc42ep4 T C 11: 113,619,944 (GRCm39) D149G probably benign Het
Chtop A G 3: 90,414,891 (GRCm39) V9A probably benign Het
Cnot9 A G 1: 74,566,165 (GRCm39) I185M probably damaging Het
Col6a5 A G 9: 105,808,438 (GRCm39) I870T unknown Het
Cr1l A G 1: 194,806,006 (GRCm39) I159T probably benign Het
Cthrc1 T C 15: 38,940,495 (GRCm39) S33P probably benign Het
Dlg2 T A 7: 90,381,192 (GRCm39) W44R probably benign Het
Dlgap4 T C 2: 156,590,342 (GRCm39) probably null Het
Dna2 A G 10: 62,790,096 (GRCm39) H193R possibly damaging Het
Espnl T A 1: 91,262,521 (GRCm39) F322Y probably benign Het
Fam171a1 G A 2: 3,224,512 (GRCm39) V293I probably benign Het
Fam76b A G 9: 13,744,308 (GRCm39) Y135C probably damaging Het
Flvcr2 A T 12: 85,793,728 (GRCm39) I35F probably benign Het
Gm9195 T A 14: 72,680,152 (GRCm39) Q2219L probably benign Het
Gnptg T C 17: 25,453,694 (GRCm39) T283A probably benign Het
Grap2 G A 15: 80,532,699 (GRCm39) V289M probably benign Het
Hk3 T C 13: 55,154,710 (GRCm39) T767A probably benign Het
Hs3st5 A G 10: 36,708,833 (GRCm39) I123V probably benign Het
Il6st A G 13: 112,640,566 (GRCm39) T781A probably damaging Het
Inpp5d T A 1: 87,623,102 (GRCm39) H398Q probably damaging Het
Kcnk1 A G 8: 126,722,287 (GRCm39) Y30C probably damaging Het
Klhl6 T C 16: 19,801,633 (GRCm39) T41A probably benign Het
Krt14 G A 11: 100,094,167 (GRCm39) H476Y possibly damaging Het
Lingo3 G C 10: 80,671,625 (GRCm39) R102G probably benign Het
Map3k9 G A 12: 81,771,476 (GRCm39) T704M probably damaging Het
Mdn1 C A 4: 32,762,341 (GRCm39) N5088K probably benign Het
Mmp9 T A 2: 164,790,812 (GRCm39) S67T probably benign Het
Mrps18c A G 5: 100,952,270 (GRCm39) E143G probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Muc21 A T 17: 35,932,093 (GRCm39) S698T unknown Het
Nags C A 11: 102,038,298 (GRCm39) R335S possibly damaging Het
Nars1 A G 18: 64,637,425 (GRCm39) V385A possibly damaging Het
Nipal2 A C 15: 34,584,809 (GRCm39) V253G possibly damaging Het
Nos2 C A 11: 78,819,405 (GRCm39) T39K probably benign Het
Or10p1 T A 10: 129,443,416 (GRCm39) *311Y probably null Het
Or10p1 T A 10: 129,443,417 (GRCm39) *311L probably null Het
Or51t4 T C 7: 102,598,455 (GRCm39) V261A probably damaging Het
Or52s19 C A 7: 103,007,495 (GRCm39) R302L possibly damaging Het
Or6c66 C T 10: 129,461,634 (GRCm39) V99M probably benign Het
Or9s15 G A 1: 92,524,140 (GRCm39) probably benign Het
Panx3 G A 9: 37,577,913 (GRCm39) P106S probably benign Het
Pappa2 G A 1: 158,590,689 (GRCm39) T1655I possibly damaging Het
Pde2a T C 7: 101,157,303 (GRCm39) L676P probably damaging Het
Pf4 A G 5: 90,920,851 (GRCm39) T60A possibly damaging Het
Pira12 C T 7: 3,898,510 (GRCm39) V313M probably damaging Het
Pld5 A T 1: 175,917,442 (GRCm39) C164S probably benign Het
Psd3 A T 8: 68,356,800 (GRCm39) M640K probably benign Het
Ptf1a A G 2: 19,450,676 (GRCm39) D2G possibly damaging Het
Ptprq C T 10: 107,544,591 (GRCm39) C313Y probably benign Het
Ranbp10 A G 8: 106,500,578 (GRCm39) S467P probably damaging Het
Rap1gap C T 4: 137,446,247 (GRCm39) T333M probably damaging Het
Rfpl4 A G 7: 5,118,558 (GRCm39) L4P probably benign Het
Rgs12 A G 5: 35,124,050 (GRCm39) N611S probably benign Het
Sacs C A 14: 61,447,966 (GRCm39) N3337K possibly damaging Het
Sbno2 A T 10: 79,895,924 (GRCm39) probably null Het
Scrn2 T A 11: 96,923,908 (GRCm39) V264E possibly damaging Het
Serpinb9c T A 13: 33,338,390 (GRCm39) I198L probably benign Het
Shank2 T C 7: 143,964,096 (GRCm39) F568S probably damaging Het
Slc47a1 C T 11: 61,268,767 (GRCm39) R36Q probably benign Het
Slc4a8 A C 15: 100,688,908 (GRCm39) E406A probably damaging Het
Speg C T 1: 75,388,091 (GRCm39) T1483I probably damaging Het
Srbd1 A G 17: 86,365,160 (GRCm39) V632A probably damaging Het
Srd5a2 A T 17: 74,328,515 (GRCm39) Y188N probably damaging Het
Sspo A T 6: 48,455,543 (GRCm39) probably null Het
Ssx2ip A T 3: 146,136,703 (GRCm39) D317V probably benign Het
Tmco3 G T 8: 13,370,847 (GRCm39) E172* probably null Het
Trpc4 G A 3: 54,206,519 (GRCm39) W573* probably null Het
Ttn T C 2: 76,580,340 (GRCm39) I23518V probably benign Het
Tubal3 A G 13: 3,983,050 (GRCm39) T277A possibly damaging Het
Unc5b A T 10: 60,610,867 (GRCm39) L391H probably damaging Het
Vmn2r76 A G 7: 85,874,440 (GRCm39) F846L probably benign Het
Vps13c T A 9: 67,790,735 (GRCm39) Y338N probably damaging Het
Zc3hav1 G T 6: 38,309,328 (GRCm39) S498* probably null Het
Zfand4 T A 6: 116,305,337 (GRCm39) probably null Het
Zfp451 A T 1: 33,811,972 (GRCm39) probably null Het
Zfp607a A T 7: 27,578,183 (GRCm39) I418F probably damaging Het
Zfp612 A G 8: 110,816,337 (GRCm39) T515A probably damaging Het
Zfp708 G T 13: 67,219,200 (GRCm39) L208I possibly damaging Het
Other mutations in Pcdhb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Pcdhb1 APN 18 37,400,395 (GRCm39) missense probably benign 0.06
IGL01622:Pcdhb1 APN 18 37,399,366 (GRCm39) missense possibly damaging 0.73
IGL01623:Pcdhb1 APN 18 37,399,366 (GRCm39) missense possibly damaging 0.73
IGL01663:Pcdhb1 APN 18 37,400,186 (GRCm39) missense possibly damaging 0.83
IGL01665:Pcdhb1 APN 18 37,400,450 (GRCm39) missense probably benign 0.01
IGL01780:Pcdhb1 APN 18 37,399,575 (GRCm39) missense probably damaging 1.00
IGL02121:Pcdhb1 APN 18 37,398,838 (GRCm39) missense probably benign 0.06
IGL02468:Pcdhb1 APN 18 37,399,231 (GRCm39) missense probably benign 0.21
IGL02602:Pcdhb1 APN 18 37,399,849 (GRCm39) missense probably damaging 1.00
K3955:Pcdhb1 UTSW 18 37,399,026 (GRCm39) missense probably damaging 1.00
R0242:Pcdhb1 UTSW 18 37,399,788 (GRCm39) missense probably benign 0.17
R0242:Pcdhb1 UTSW 18 37,399,788 (GRCm39) missense probably benign 0.17
R0329:Pcdhb1 UTSW 18 37,400,077 (GRCm39) missense possibly damaging 0.59
R0627:Pcdhb1 UTSW 18 37,398,774 (GRCm39) missense probably damaging 1.00
R0848:Pcdhb1 UTSW 18 37,400,475 (GRCm39) missense probably benign 0.00
R1187:Pcdhb1 UTSW 18 37,398,597 (GRCm39) missense probably damaging 1.00
R1290:Pcdhb1 UTSW 18 37,398,283 (GRCm39) missense possibly damaging 0.54
R1928:Pcdhb1 UTSW 18 37,399,233 (GRCm39) nonsense probably null
R1957:Pcdhb1 UTSW 18 37,398,760 (GRCm39) missense probably damaging 1.00
R2897:Pcdhb1 UTSW 18 37,399,516 (GRCm39) missense probably damaging 1.00
R2898:Pcdhb1 UTSW 18 37,399,516 (GRCm39) missense probably damaging 1.00
R3037:Pcdhb1 UTSW 18 37,398,166 (GRCm39) missense probably damaging 1.00
R4193:Pcdhb1 UTSW 18 37,400,199 (GRCm39) missense probably damaging 0.99
R4291:Pcdhb1 UTSW 18 37,398,470 (GRCm39) missense probably damaging 1.00
R4308:Pcdhb1 UTSW 18 37,399,714 (GRCm39) missense probably benign 0.00
R4332:Pcdhb1 UTSW 18 37,398,583 (GRCm39) missense probably damaging 1.00
R4606:Pcdhb1 UTSW 18 37,398,581 (GRCm39) nonsense probably null
R4637:Pcdhb1 UTSW 18 37,398,802 (GRCm39) missense possibly damaging 0.95
R5159:Pcdhb1 UTSW 18 37,399,416 (GRCm39) missense possibly damaging 0.89
R5207:Pcdhb1 UTSW 18 37,399,515 (GRCm39) missense probably damaging 1.00
R5211:Pcdhb1 UTSW 18 37,399,704 (GRCm39) missense probably benign 0.06
R5273:Pcdhb1 UTSW 18 37,398,766 (GRCm39) missense probably benign 0.23
R5335:Pcdhb1 UTSW 18 37,400,308 (GRCm39) missense probably benign 0.00
R5398:Pcdhb1 UTSW 18 37,399,207 (GRCm39) missense probably damaging 1.00
R5452:Pcdhb1 UTSW 18 37,398,811 (GRCm39) missense possibly damaging 0.94
R5837:Pcdhb1 UTSW 18 37,398,880 (GRCm39) missense possibly damaging 0.57
R5882:Pcdhb1 UTSW 18 37,400,230 (GRCm39) missense probably benign 0.05
R5947:Pcdhb1 UTSW 18 37,399,726 (GRCm39) missense possibly damaging 0.74
R6109:Pcdhb1 UTSW 18 37,398,306 (GRCm39) missense possibly damaging 0.69
R7052:Pcdhb1 UTSW 18 37,399,582 (GRCm39) missense probably damaging 1.00
R7137:Pcdhb1 UTSW 18 37,400,445 (GRCm39) missense possibly damaging 0.69
R7229:Pcdhb1 UTSW 18 37,399,740 (GRCm39) missense probably damaging 1.00
R7392:Pcdhb1 UTSW 18 37,398,171 (GRCm39) missense possibly damaging 0.95
R7993:Pcdhb1 UTSW 18 37,400,044 (GRCm39) missense probably damaging 1.00
R8704:Pcdhb1 UTSW 18 37,399,402 (GRCm39) missense possibly damaging 0.51
R9498:Pcdhb1 UTSW 18 37,398,516 (GRCm39) missense probably damaging 0.99
R9703:Pcdhb1 UTSW 18 37,399,019 (GRCm39) missense probably damaging 1.00
R9757:Pcdhb1 UTSW 18 37,400,302 (GRCm39) missense probably benign 0.24
T0970:Pcdhb1 UTSW 18 37,399,026 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTAAAGCCACAGACCTTGGG -3'
(R):5'- TCCTTGAACCAAGTTGTTAGGG -3'

Sequencing Primer
(F):5'- AAGCCACAGACCTTGGGTTATTTTC -3'
(R):5'- CAGTCATCATAGAAGTGCTCTTG -3'
Posted On 2019-05-15