Incidental Mutation 'R7586:Pcdhb2'
ID 587172
Institutional Source Beutler Lab
Gene Symbol Pcdhb2
Ensembl Gene ENSMUSG00000051599
Gene Name protocadherin beta 2
Synonyms PcdhbB
MMRRC Submission 045668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7586 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37427893-37430667 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 37428857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 277 (G277*)
Ref Sequence ENSEMBL: ENSMUSP00000057921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]
AlphaFold Q91Y00
Predicted Effect probably benign
Transcript: ENSMUST00000051754
SMART Domains Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
CA 44 131 6.29e-1 SMART
CA 155 240 7.16e-21 SMART
CA 264 345 1.22e-23 SMART
CA 368 449 2.86e-20 SMART
CA 473 559 2.55e-26 SMART
CA 589 670 1.11e-8 SMART
Pfam:Cadherin_C_2 687 770 9.9e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000056522
AA Change: G277*
SMART Domains Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: G277*

DomainStartEndE-ValueType
Pfam:Cadherin_2 32 114 5.2e-33 PFAM
CA 157 242 1.74e-19 SMART
CA 266 347 5.99e-23 SMART
CA 370 451 1.16e-20 SMART
CA 475 561 5.94e-27 SMART
CA 591 672 2.03e-11 SMART
Pfam:Cadherin_C_2 688 771 3.5e-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: ENSMUST00000193137
SMART Domains Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

DomainStartEndE-ValueType
CA 13 94 1.8e-22 SMART
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 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a C T 9: 65,409,466 (GRCm39) probably null Het
Ankrd31 A G 13: 96,968,562 (GRCm39) E733G possibly damaging Het
Cars2 C T 8: 11,580,321 (GRCm39) W239* probably null Het
Catsperz A T 19: 6,899,929 (GRCm39) L192* probably null Het
Ccdc168 G A 1: 44,099,173 (GRCm39) R642W probably benign Het
Cdh3 T C 8: 107,237,975 (GRCm39) probably null Het
Cfh C T 1: 140,075,459 (GRCm39) V260M probably damaging Het
Clcn4 T A 7: 7,296,958 (GRCm39) S227C probably benign Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Col27a1 C A 4: 63,143,278 (GRCm39) A322D probably damaging Het
Egflam C T 15: 7,238,082 (GRCm39) G934S probably damaging Het
Eloa A G 4: 135,734,510 (GRCm39) V665A probably damaging Het
Epg5 A G 18: 78,073,275 (GRCm39) T2433A probably benign Het
Ercc5 A G 1: 44,215,011 (GRCm39) N848S possibly damaging Het
Fbrsl1 A C 5: 110,526,020 (GRCm39) F61V probably damaging Het
Fry T C 5: 150,349,683 (GRCm39) Y1595H probably damaging Het
Fstl4 A G 11: 52,963,256 (GRCm39) N213D probably benign Het
Gab2 C T 7: 96,950,645 (GRCm39) P446L probably damaging Het
Ganab A T 19: 8,888,716 (GRCm39) Y552F possibly damaging Het
Gfy C T 7: 44,826,962 (GRCm39) R378Q probably damaging Het
Gm3285 T C 10: 77,697,875 (GRCm39) V8A unknown Het
Grip1 A T 10: 119,913,043 (GRCm39) probably null Het
Gtf3c3 A G 1: 54,442,752 (GRCm39) L764P probably damaging Het
Igfbp2 A T 1: 72,888,307 (GRCm39) M150L probably benign Het
Jakmip2 C T 18: 43,673,676 (GRCm39) R796Q probably damaging Het
Jpt1 T A 11: 115,389,021 (GRCm39) R141W probably damaging Het
Junb T C 8: 85,704,802 (GRCm39) E86G probably damaging Het
Klhl41 A T 2: 69,505,068 (GRCm39) D457V probably benign Het
Lama2 T C 10: 26,977,389 (GRCm39) Y1930C probably benign Het
Med13 A T 11: 86,161,828 (GRCm39) I2167N probably damaging Het
Msh3 A G 13: 92,485,840 (GRCm39) probably benign Het
Myo1b A C 1: 51,817,483 (GRCm39) I593S probably damaging Het
Myo1c A T 11: 75,548,345 (GRCm39) T16S possibly damaging Het
Ndufaf4 C T 4: 24,901,829 (GRCm39) L126F probably damaging Het
Nlrp9a A T 7: 26,256,721 (GRCm39) N113I possibly damaging Het
Or5d43 T A 2: 88,104,794 (GRCm39) I200F probably damaging Het
Or5g23 G C 2: 85,438,528 (GRCm39) S242C probably damaging Het
Or5p6 T A 7: 107,631,128 (GRCm39) T141S probably benign Het
Pabpc6 A T 17: 9,887,611 (GRCm39) D313E probably damaging Het
Phkb T G 8: 86,756,226 (GRCm39) V840G probably damaging Het
Pip4k2c A G 10: 127,034,955 (GRCm39) F415S probably damaging Het
Ptprb A G 10: 116,179,779 (GRCm39) E1112G probably damaging Het
Pum2 A G 12: 8,797,206 (GRCm39) D847G probably damaging Het
Qrich2 C T 11: 116,346,450 (GRCm39) R1458H probably benign Het
Rdh11 T C 12: 79,231,957 (GRCm39) Y199C probably damaging Het
Resf1 A T 6: 149,228,291 (GRCm39) N446Y possibly damaging Het
Scamp3 A G 3: 89,087,673 (GRCm39) Y171C probably damaging Het
Serpinb9b T C 13: 33,223,743 (GRCm39) S312P probably damaging Het
Slain2 G A 5: 73,123,165 (GRCm39) S461N probably benign Het
Slc23a1 G A 18: 35,758,891 (GRCm39) T100I probably damaging Het
Spata31d1b T A 13: 59,866,194 (GRCm39) I1114N probably damaging Het
Spinkl A G 18: 44,307,656 (GRCm39) S2P probably damaging Het
Srrt T C 5: 137,300,457 (GRCm39) N173S probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Supt16 A T 14: 52,411,013 (GRCm39) V697E probably damaging Het
Taf6l C T 19: 8,761,210 (GRCm39) E53K probably damaging Het
Tmem81 A T 1: 132,435,511 (GRCm39) I106F probably damaging Het
Tnxb C A 17: 34,935,382 (GRCm39) L2561I probably damaging Het
Top3b G A 16: 16,709,232 (GRCm39) R640H probably benign Het
Trpm7 A T 2: 126,652,085 (GRCm39) S1463T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tubal3 A C 13: 3,978,198 (GRCm39) D38A possibly damaging Het
Vps13a T A 19: 16,624,962 (GRCm39) I2766F probably benign Het
Wwc1 A T 11: 35,735,022 (GRCm39) V951E possibly damaging Het
Zfp777 A T 6: 48,006,152 (GRCm39) M414K probably benign Het
Other mutations in Pcdhb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Pcdhb2 APN 18 37,429,516 (GRCm39) splice site probably null
IGL01538:Pcdhb2 APN 18 37,428,375 (GRCm39) nonsense probably null
IGL01716:Pcdhb2 APN 18 37,429,791 (GRCm39) missense probably damaging 0.99
IGL01747:Pcdhb2 APN 18 37,429,356 (GRCm39) missense probably damaging 1.00
IGL01770:Pcdhb2 APN 18 37,429,356 (GRCm39) missense probably damaging 1.00
IGL01999:Pcdhb2 APN 18 37,429,890 (GRCm39) missense probably damaging 1.00
IGL02174:Pcdhb2 APN 18 37,429,551 (GRCm39) missense probably damaging 1.00
IGL02325:Pcdhb2 APN 18 37,429,733 (GRCm39) missense possibly damaging 0.91
IGL03148:Pcdhb2 APN 18 37,429,831 (GRCm39) missense probably damaging 1.00
IGL03263:Pcdhb2 APN 18 37,429,059 (GRCm39) missense probably damaging 1.00
R0158:Pcdhb2 UTSW 18 37,430,283 (GRCm39) missense probably damaging 1.00
R0512:Pcdhb2 UTSW 18 37,429,032 (GRCm39) missense probably damaging 1.00
R0656:Pcdhb2 UTSW 18 37,428,543 (GRCm39) missense probably damaging 1.00
R0670:Pcdhb2 UTSW 18 37,429,701 (GRCm39) missense probably damaging 1.00
R0698:Pcdhb2 UTSW 18 37,430,419 (GRCm39) missense probably benign 0.00
R0825:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R0827:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R0862:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R0863:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R1344:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R1440:Pcdhb2 UTSW 18 37,429,343 (GRCm39) missense probably benign 0.22
R1826:Pcdhb2 UTSW 18 37,429,038 (GRCm39) missense probably damaging 0.99
R1828:Pcdhb2 UTSW 18 37,429,038 (GRCm39) missense probably damaging 0.99
R1869:Pcdhb2 UTSW 18 37,430,408 (GRCm39) splice site probably null
R1871:Pcdhb2 UTSW 18 37,430,408 (GRCm39) splice site probably null
R2292:Pcdhb2 UTSW 18 37,430,297 (GRCm39) splice site probably null
R3743:Pcdhb2 UTSW 18 37,429,470 (GRCm39) missense probably damaging 1.00
R4067:Pcdhb2 UTSW 18 37,430,367 (GRCm39) splice site probably null
R4127:Pcdhb2 UTSW 18 37,428,594 (GRCm39) missense probably damaging 0.97
R4402:Pcdhb2 UTSW 18 37,428,455 (GRCm39) missense probably benign 0.05
R4579:Pcdhb2 UTSW 18 37,429,168 (GRCm39) missense probably damaging 1.00
R4621:Pcdhb2 UTSW 18 37,428,980 (GRCm39) missense probably benign 0.44
R4678:Pcdhb2 UTSW 18 37,429,260 (GRCm39) missense probably damaging 1.00
R5143:Pcdhb2 UTSW 18 37,429,785 (GRCm39) missense probably damaging 1.00
R5152:Pcdhb2 UTSW 18 37,429,179 (GRCm39) missense probably damaging 0.97
R6552:Pcdhb2 UTSW 18 37,429,046 (GRCm39) missense probably benign
R6908:Pcdhb2 UTSW 18 37,429,577 (GRCm39) missense probably damaging 1.00
R6973:Pcdhb2 UTSW 18 37,429,416 (GRCm39) missense probably benign 0.03
R7143:Pcdhb2 UTSW 18 37,428,934 (GRCm39) missense probably benign 0.05
R7248:Pcdhb2 UTSW 18 37,429,547 (GRCm39) missense probably damaging 1.00
R7634:Pcdhb2 UTSW 18 37,428,000 (GRCm39) intron probably benign
R7796:Pcdhb2 UTSW 18 37,428,446 (GRCm39) missense possibly damaging 0.63
R7862:Pcdhb2 UTSW 18 37,429,113 (GRCm39) missense probably benign 0.25
R8415:Pcdhb2 UTSW 18 37,429,110 (GRCm39) missense probably damaging 0.97
R8950:Pcdhb2 UTSW 18 37,429,715 (GRCm39) missense probably damaging 1.00
R9351:Pcdhb2 UTSW 18 37,429,369 (GRCm39) missense probably damaging 1.00
R9360:Pcdhb2 UTSW 18 37,429,551 (GRCm39) missense probably damaging 1.00
R9592:Pcdhb2 UTSW 18 37,429,266 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGACAAAGTGCTGGATCG -3'
(R):5'- ACTGCTTCCAGAAAGTCCCC -3'

Sequencing Primer
(F):5'- CTCACAGCTCTAGATGGTGGGAATC -3'
(R):5'- AGTCCCCCACCATCTGTAG -3'
Posted On 2019-10-24