Incidental Mutation 'IGL01538:Pcdhb2'
ID90069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb2
Ensembl Gene ENSMUSG00000051599
Gene Nameprotocadherin beta 2
SynonymsPcdhbB
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01538
Quality Score
Status
Chromosome18
Chromosomal Location37294812-37297624 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 37295322 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 116 (L116*)
Ref Sequence ENSEMBL: ENSMUSP00000057921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]
Predicted Effect probably null
Transcript: ENSMUST00000056522
AA Change: L116*
SMART Domains Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: L116*

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
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,872,202 noncoding transcript Het
Abca3 G T 17: 24,376,473 C328F possibly damaging Het
Aldh5a1 T C 13: 24,918,512 N323D possibly damaging Het
Atp5c1 T C 2: 10,068,666 Y32C probably damaging Het
Capn3 T G 2: 120,502,186 probably null Het
Ccdc113 C A 8: 95,551,238 D275E probably benign Het
Ccdc40 T A 11: 119,242,719 F562I possibly damaging Het
Cd96 T C 16: 46,109,127 T152A possibly damaging Het
Cdh7 T A 1: 110,061,140 D257E probably damaging Het
Cilp2 T C 8: 69,881,204 D1048G probably benign Het
Clrn2 T G 5: 45,460,066 L93R probably damaging Het
Crat C A 2: 30,409,966 G134V probably damaging Het
Dis3 A T 14: 99,097,745 N140K probably benign Het
Dmxl2 T A 9: 54,445,376 probably benign Het
Dus1l T A 11: 120,793,079 Q181L probably damaging Het
Ece1 A G 4: 137,948,544 T410A probably benign Het
Gcc1 T A 6: 28,421,048 H90L probably damaging Het
Gm16602 G A 13: 19,336,570 probably benign Het
Gm1966 T C 7: 106,602,537 D500G probably damaging Het
Gpr152 T A 19: 4,142,952 V164E probably damaging Het
Grik3 A C 4: 125,694,036 I650L possibly damaging Het
Gzmm A T 10: 79,695,062 T233S probably benign Het
H2-Q4 T A 17: 35,383,312 V341D probably benign Het
Igsf21 A G 4: 140,027,718 probably benign Het
Kmt2d T C 15: 98,860,657 probably benign Het
Kntc1 T G 5: 123,781,658 V864G probably damaging Het
Lnx1 T C 5: 74,620,155 E235G possibly damaging Het
Man2b1 G T 8: 85,097,430 K985N probably benign Het
Map4k1 C A 7: 29,001,619 P670Q probably damaging Het
Mapk8ip1 C A 2: 92,388,974 probably null Het
Mettl16 T A 11: 74,792,267 Y178* probably null Het
Mrpl11 T A 19: 4,963,421 probably null Het
Nup85 T C 11: 115,569,714 S140P possibly damaging Het
Olfr1140 T C 2: 87,746,598 V134A probably benign Het
Olfr1301 T A 2: 111,755,005 V252E probably damaging Het
Olfr301 T C 7: 86,412,959 L199P possibly damaging Het
Olfr352 T C 2: 36,870,520 probably benign Het
Pdcd7 C A 9: 65,346,703 R188S probably damaging Het
Pdk2 T C 11: 95,027,285 Y374C probably damaging Het
Ppp1r12a G T 10: 108,234,021 D224Y probably damaging Het
Ppp2r2d T A 7: 138,876,635 Y169N probably damaging Het
Prcp A C 7: 92,910,213 T162P probably benign Het
Prkd1 A G 12: 50,342,142 S873P probably benign Het
Ptpn2 T C 18: 67,681,553 T129A probably benign Het
Rtkn G A 6: 83,146,061 R68H probably damaging Het
Sall4 C T 2: 168,755,856 D355N probably damaging Het
Scn7a A G 2: 66,703,852 V493A probably benign Het
Sema4b G A 7: 80,215,696 A140T probably damaging Het
Shisa6 C A 11: 66,217,828 G408C possibly damaging Het
Slc7a9 G T 7: 35,454,164 V197F probably damaging Het
Spata2 A T 2: 167,484,151 D249E probably damaging Het
Stk36 T A 1: 74,633,638 V1013E probably benign Het
Tcp10a T C 17: 7,343,500 V336A probably damaging Het
Tfb2m A T 1: 179,537,844 V185D possibly damaging Het
Tgm7 T A 2: 121,106,915 Y76F probably benign Het
Tph1 T C 7: 46,653,753 Y267C probably damaging Het
Ube2d1 A G 10: 71,255,826 probably benign Het
Vmn2r12 C A 5: 109,091,850 R282S probably damaging Het
Vps4a A G 8: 107,036,924 D72G probably benign Het
Wipf2 T A 11: 98,890,803 V56D possibly damaging Het
Wisp3 A G 10: 39,158,310 Y99H probably damaging Het
Zfp750 C A 11: 121,512,165 V586L probably benign Het
Zfp831 A G 2: 174,644,606 E358G possibly damaging Het
Other mutations in Pcdhb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Pcdhb2 APN 18 37296463 unclassified probably null
IGL01716:Pcdhb2 APN 18 37296738 missense probably damaging 0.99
IGL01747:Pcdhb2 APN 18 37296303 missense probably damaging 1.00
IGL01770:Pcdhb2 APN 18 37296303 missense probably damaging 1.00
IGL01999:Pcdhb2 APN 18 37296837 missense probably damaging 1.00
IGL02174:Pcdhb2 APN 18 37296498 missense probably damaging 1.00
IGL02325:Pcdhb2 APN 18 37296680 missense possibly damaging 0.91
IGL03148:Pcdhb2 APN 18 37296778 missense probably damaging 1.00
IGL03263:Pcdhb2 APN 18 37296006 missense probably damaging 1.00
R0158:Pcdhb2 UTSW 18 37297230 missense probably damaging 1.00
R0512:Pcdhb2 UTSW 18 37295979 missense probably damaging 1.00
R0656:Pcdhb2 UTSW 18 37295490 missense probably damaging 1.00
R0670:Pcdhb2 UTSW 18 37296648 missense probably damaging 1.00
R0698:Pcdhb2 UTSW 18 37297366 missense probably benign 0.00
R0825:Pcdhb2 UTSW 18 37295657 missense possibly damaging 0.61
R0827:Pcdhb2 UTSW 18 37295657 missense possibly damaging 0.61
R0862:Pcdhb2 UTSW 18 37295657 missense possibly damaging 0.61
R0863:Pcdhb2 UTSW 18 37295657 missense possibly damaging 0.61
R1344:Pcdhb2 UTSW 18 37295657 missense possibly damaging 0.61
R1440:Pcdhb2 UTSW 18 37296290 missense probably benign 0.22
R1826:Pcdhb2 UTSW 18 37295985 missense probably damaging 0.99
R1828:Pcdhb2 UTSW 18 37295985 missense probably damaging 0.99
R1869:Pcdhb2 UTSW 18 37297355 unclassified probably null
R1871:Pcdhb2 UTSW 18 37297355 unclassified probably null
R2292:Pcdhb2 UTSW 18 37297244 unclassified probably null
R3743:Pcdhb2 UTSW 18 37296417 missense probably damaging 1.00
R4067:Pcdhb2 UTSW 18 37297314 unclassified probably null
R4127:Pcdhb2 UTSW 18 37295541 missense probably damaging 0.97
R4402:Pcdhb2 UTSW 18 37295402 missense probably benign 0.05
R4579:Pcdhb2 UTSW 18 37296115 missense probably damaging 1.00
R4621:Pcdhb2 UTSW 18 37295927 missense probably benign 0.44
R4678:Pcdhb2 UTSW 18 37296207 missense probably damaging 1.00
R5143:Pcdhb2 UTSW 18 37296732 missense probably damaging 1.00
R5152:Pcdhb2 UTSW 18 37296126 missense probably damaging 0.97
R6552:Pcdhb2 UTSW 18 37295993 missense probably benign
R6908:Pcdhb2 UTSW 18 37296524 missense probably damaging 1.00
R6973:Pcdhb2 UTSW 18 37296363 missense probably benign 0.03
R7143:Pcdhb2 UTSW 18 37295881 missense probably benign 0.05
R7248:Pcdhb2 UTSW 18 37296494 missense probably damaging 1.00
Posted On2013-12-03