Incidental Mutation 'R0158:Pcdhb2'
ID 23011
Institutional Source Beutler Lab
Gene Symbol Pcdhb2
Ensembl Gene ENSMUSG00000051599
Gene Name protocadherin beta 2
Synonyms PcdhbB
MMRRC Submission 038438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0158 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 18
Chromosomal Location 37427893-37430667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37430283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 752 (Y752S)
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 damaging
Transcript: ENSMUST00000056522
AA Change: Y752S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: Y752S

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 0.8866 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 93% (79/85)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,316 (GRCm39) R437C probably damaging Het
Abhd3 A G 18: 10,647,840 (GRCm39) Y315H possibly damaging Het
Adam19 C T 11: 46,033,861 (GRCm39) P891L probably damaging Het
Ampd1 T A 3: 102,999,046 (GRCm39) Y400* probably null Het
Ap1g1 T C 8: 110,582,267 (GRCm39) S724P probably benign Het
Bst2 T A 8: 71,989,861 (GRCm39) T71S possibly damaging Het
C3 A G 17: 57,531,851 (GRCm39) probably null Het
Cacna2d1 C A 5: 16,566,815 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,213,709 (GRCm39) H43Y possibly damaging Het
Ccdc71 T G 9: 108,341,336 (GRCm39) V383G probably benign Het
Cd109 A T 9: 78,596,214 (GRCm39) Q849L possibly damaging Het
Cdkn2a A T 4: 89,195,004 (GRCm39) H115Q possibly damaging Het
Ces1e T C 8: 93,946,057 (GRCm39) E161G probably benign Het
Cggbp1 C T 16: 64,676,201 (GRCm39) S89L possibly damaging Het
Crocc A T 4: 140,769,553 (GRCm39) probably benign Het
Cspg4b T A 13: 113,505,687 (GRCm39) L2272* probably null Het
Eef1akmt3 G A 10: 126,869,142 (GRCm39) Q111* probably null Het
Exoc7 T C 11: 116,186,118 (GRCm39) N361S probably benign Het
Fat2 G T 11: 55,187,011 (GRCm39) S1278R probably benign Het
Fbxo42 A G 4: 140,927,640 (GRCm39) N640S probably benign Het
Fbxw25 A G 9: 109,483,720 (GRCm39) V164A possibly damaging Het
Fcgbpl1 A G 7: 27,854,917 (GRCm39) I1848V probably damaging Het
Foxs1 T C 2: 152,774,330 (GRCm39) E241G probably damaging Het
Fras1 A T 5: 96,924,493 (GRCm39) I3645F possibly damaging Het
Gm14496 T A 2: 181,639,206 (GRCm39) V432E probably benign Het
H3c2 T A 13: 23,936,693 (GRCm39) C111S probably damaging Het
Herc1 T A 9: 66,403,203 (GRCm39) L4374* probably null Het
Ift122 T C 6: 115,901,445 (GRCm39) probably benign Het
Itgav C A 2: 83,622,381 (GRCm39) N654K probably benign Het
Itih5 T C 2: 10,239,803 (GRCm39) probably benign Het
Jak2 C A 19: 29,289,157 (GRCm39) T1103K probably benign Het
Kcnc4 C A 3: 107,365,920 (GRCm39) C96F probably benign Het
Med13l C A 5: 118,880,514 (GRCm39) S1202Y unknown Het
Mefv T C 16: 3,533,320 (GRCm39) E317G possibly damaging Het
Ncoa2 T C 1: 13,222,608 (GRCm39) T1226A probably benign Het
Nktr C T 9: 121,579,757 (GRCm39) probably benign Het
Nudt5 G A 2: 5,867,114 (GRCm39) V61M probably damaging Het
Or51a39 C T 7: 102,363,162 (GRCm39) A153T probably benign Het
Pakap A G 4: 57,709,649 (GRCm39) D198G possibly damaging Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pnp2 G A 14: 51,201,761 (GRCm39) R249H probably damaging Het
Rgs3 A T 4: 62,542,121 (GRCm39) I32F probably damaging Het
Rnf139 A G 15: 58,770,727 (GRCm39) T251A probably benign Het
Rnf41 A G 10: 128,274,104 (GRCm39) E252G probably damaging Het
Rxfp2 T A 5: 149,975,093 (GRCm39) F220Y probably benign Het
Sdcbp A G 4: 6,379,042 (GRCm39) D43G possibly damaging Het
Serpina3f A G 12: 104,183,267 (GRCm39) D43G probably damaging Het
Sftpc T C 14: 70,758,887 (GRCm39) K154R probably null Het
Simc1 A G 13: 54,672,530 (GRCm39) T293A probably benign Het
Skint6 A T 4: 113,042,011 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,225,208 (GRCm39) probably benign Het
Spata31e2 T G 1: 26,723,032 (GRCm39) H716P probably damaging Het
Ston2 A T 12: 91,707,376 (GRCm39) I78N probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tent4b G A 8: 88,977,371 (GRCm39) G391D probably damaging Het
Tiam1 C T 16: 89,589,889 (GRCm39) probably benign Het
Tnfsf15 T C 4: 63,648,229 (GRCm39) H137R possibly damaging Het
Tpte G A 8: 22,817,755 (GRCm39) R247H possibly damaging Het
Trim2 T C 3: 84,117,476 (GRCm39) probably benign Het
Ulk1 A T 5: 110,936,810 (GRCm39) probably benign Het
Utp4 T G 8: 107,640,018 (GRCm39) H442Q probably null Het
Vmn1r193 T A 13: 22,403,798 (GRCm39) I65F probably damaging Het
Vps54 A T 11: 21,256,962 (GRCm39) Q690L probably damaging Het
Ybx2 T C 11: 69,831,145 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,568,993 (GRCm39) G697D possibly damaging Het
Zfp202 C T 9: 40,120,212 (GRCm39) Q218* probably null Het
Zfp820 G A 17: 22,038,800 (GRCm39) T176I 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
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
R7586:Pcdhb2 UTSW 18 37,428,857 (GRCm39) nonsense probably null
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'- CATTCTGCCAGCGTCACATTGC -3'
(R):5'- AGTACAATCGGGCCAGGTTTTAGC -3'

Sequencing Primer
(F):5'- AGCGTCACATTGCAGGTG -3'
(R):5'- CTCTGTCTCTGAACTCTGAAGG -3'
Posted On 2013-04-16