Incidental Mutation 'IGL03263:Pcdhb2'
ID414956
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: 0.065) question?
Stock #IGL03263
Quality Score
Status
Chromosome18
Chromosomal Location37294812-37297624 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37296006 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 344 (D344G)
Ref Sequence ENSEMBL: ENSMUSP00000057921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]
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: D344G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: D344G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,564,237 I81F probably damaging Het
Acacb C T 5: 114,213,693 H1164Y probably damaging Het
Adamts5 A T 16: 85,869,942 V554E probably damaging Het
Asns G A 6: 7,689,404 R33C probably benign Het
BC051076 T G 5: 87,964,118 noncoding transcript Het
Bcas3 C T 11: 85,822,122 probably benign Het
Bpifb1 A G 2: 154,215,306 M395V probably benign Het
Cdcp1 C A 9: 123,180,087 V509L probably benign Het
Cdhr2 A G 13: 54,718,113 T277A possibly damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clca4a T A 3: 144,966,431 E250V probably damaging Het
Cplx4 T C 18: 65,967,488 D79G probably benign Het
Dcaf11 A G 14: 55,565,492 D246G probably damaging Het
Dnah2 A T 11: 69,529,381 probably null Het
Dock3 A T 9: 106,930,131 probably benign Het
Fam170a T C 18: 50,280,521 probably benign Het
Fgfr2 T A 7: 130,180,419 M423L probably benign Het
Gabra2 A G 5: 70,973,493 F331L probably damaging Het
Galnt18 C T 7: 111,520,114 R400Q probably damaging Het
Gm884 A G 11: 103,613,699 V2481A possibly damaging Het
H2-M11 A T 17: 36,548,913 Q266L probably damaging Het
Igf2bp1 A T 11: 95,966,673 V502D probably damaging Het
Ik A G 18: 36,748,646 N111S probably damaging Het
Intu T A 3: 40,672,597 Y269* probably null Het
Krt82 T C 15: 101,541,872 Y463C probably benign Het
Lrig1 A G 6: 94,611,647 M507T probably benign Het
Mag T G 7: 30,899,528 probably null Het
Map7 T A 10: 20,245,322 Y121* probably null Het
March6 A G 15: 31,486,362 I349T probably benign Het
Mas1 A G 17: 12,841,564 V324A possibly damaging Het
Nckap1l T C 15: 103,464,405 W259R probably damaging Het
Nhsl1 T A 10: 18,498,079 Y164* probably null Het
Olfr678 T A 7: 105,070,002 H178Q probably damaging Het
Olfr885 A T 9: 38,061,713 Y131F probably damaging Het
Pclo T C 5: 14,681,810 V3442A unknown Het
Polr3c C T 3: 96,714,251 probably benign Het
Ppp2r2d C T 7: 138,872,922 R11* probably null Het
Ptgfr T A 3: 151,835,863 M3L probably benign Het
Rfx6 A G 10: 51,725,807 S741G probably benign Het
Rif1 T C 2: 52,090,261 V490A probably damaging Het
Samd7 T A 3: 30,762,153 H349Q probably damaging Het
Sh3pxd2a T C 19: 47,314,043 N199S probably damaging Het
Spef2 T A 15: 9,667,219 K794N possibly damaging Het
Spta1 C T 1: 174,213,918 A1316V probably damaging Het
Vwa7 A G 17: 35,021,599 E410G probably benign Het
Washc2 T A 6: 116,238,123 probably benign Het
Wdr72 A C 9: 74,157,429 Y581S probably damaging Het
Zdhhc17 T C 10: 110,961,016 D298G probably damaging Het
Other mutations in Pcdhb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Pcdhb2 APN 18 37296463 unclassified probably null
IGL01538:Pcdhb2 APN 18 37295322 nonsense 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
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 On2016-08-02