Incidental Mutation 'IGL01768:Pcdhb20'
ID153985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb20
Ensembl Gene ENSMUSG00000046191
Gene Nameprotocadherin beta 20
SynonymsPcdhbT, Pcdhb14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01768
Quality Score
Status
Chromosome18
Chromosomal Location37504264-37507822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37506715 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 765 (F765L)
Ref Sequence ENSEMBL: ENSMUSP00000137038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052179
AA Change: F765L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: F765L

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 8.3e-36 PFAM
low complexity region 136 148 N/A INTRINSIC
CA 155 240 1.41e-19 SMART
CA 264 345 2.91e-21 SMART
CA 368 449 1.12e-22 SMART
CA 473 559 3.41e-27 SMART
CA 589 670 6.34e-13 SMART
Pfam:Cadherin_C_2 686 769 7.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059571
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 45 131 4.8e-1 SMART
CA 155 240 6.58e-20 SMART
CA 264 345 1.03e-21 SMART
CA 368 449 4.21e-18 SMART
CA 473 559 3.36e-26 SMART
CA 589 670 6.69e-12 SMART
Pfam:Cadherin_C_2 686 769 1.9e-25 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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,468,916 L217M possibly damaging Het
Aifm3 T C 16: 17,506,277 V567A possibly damaging Het
Arnt T C 3: 95,491,016 probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Capn5 C T 7: 98,125,273 R570H probably damaging Het
Ccdc173 A T 2: 69,782,127 probably benign Het
Cdh9 A T 15: 16,778,225 D42V possibly damaging Het
Cdk17 T C 10: 93,208,261 S21P probably damaging Het
Cdkl3 T A 11: 52,025,917 F291I probably damaging Het
Clmn T C 12: 104,781,719 E523G probably damaging Het
Cyp4f14 A T 17: 32,908,002 I318N probably damaging Het
Daam1 T A 12: 71,989,885 F1068L probably benign Het
Ext2 A G 2: 93,791,110 probably benign Het
F5 T A 1: 164,176,345 F236L probably benign Het
Fat2 A G 11: 55,262,568 V3606A probably damaging Het
Gpam G A 19: 55,087,520 T220M probably benign Het
Hyal1 C A 9: 107,579,139 L342I probably damaging Het
Ilvbl C A 10: 78,583,293 P459T possibly damaging Het
Itga5 A G 15: 103,351,570 Y632H probably benign Het
Krt73 T C 15: 101,798,856 D299G probably benign Het
Lcp1 T C 14: 75,224,133 V522A probably benign Het
Lmo3 A G 6: 138,416,497 C53R probably damaging Het
Nsun7 T C 5: 66,278,700 V305A probably benign Het
Olfr1391 G A 11: 49,328,131 C240Y probably damaging Het
Olfr1427 A T 19: 12,099,039 I200N probably damaging Het
Olfr859 G A 9: 19,809,160 V281M possibly damaging Het
Oprm1 T C 10: 6,829,186 S196P probably damaging Het
Ovgp1 T C 3: 105,981,351 probably null Het
Ppp4r4 T C 12: 103,581,405 V3A probably benign Het
Ruvbl1 A G 6: 88,497,271 I419V probably benign Het
Scara5 T A 14: 65,689,775 C40* probably null Het
Siglec1 T C 2: 131,074,394 Q1212R probably benign Het
Slc31a1 G A 4: 62,388,036 probably null Het
Sparc G T 11: 55,405,243 N87K probably damaging Het
Tcf12 T C 9: 71,868,996 probably null Het
Timm44 A T 8: 4,266,860 F258I probably benign Het
Tm2d2 G T 8: 25,018,079 V80L possibly damaging Het
Tpr A G 1: 150,444,448 D2249G possibly damaging Het
Trim50 G T 5: 135,363,882 G217V possibly damaging Het
Ugcg T C 4: 59,217,216 probably null Het
Vmn2r107 A T 17: 20,345,606 H61L probably benign Het
Zfp84 A G 7: 29,776,666 H261R probably benign Het
Zswim2 A T 2: 83,917,957 M293K probably benign Het
Other mutations in Pcdhb20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Pcdhb20 APN 18 37504685 missense possibly damaging 0.87
IGL01373:Pcdhb20 APN 18 37506568 missense probably benign 0.10
IGL01556:Pcdhb20 APN 18 37504799 missense possibly damaging 0.88
IGL01621:Pcdhb20 APN 18 37504807 missense possibly damaging 0.49
IGL01859:Pcdhb20 APN 18 37504563 missense probably damaging 0.98
IGL02492:Pcdhb20 APN 18 37506400 missense probably benign 0.43
IGL03057:Pcdhb20 APN 18 37504798 missense possibly damaging 0.74
IGL02991:Pcdhb20 UTSW 18 37506211 missense probably damaging 1.00
R0799:Pcdhb20 UTSW 18 37505885 missense probably damaging 1.00
R1465:Pcdhb20 UTSW 18 37504697 missense probably damaging 0.99
R1465:Pcdhb20 UTSW 18 37504697 missense probably damaging 0.99
R2012:Pcdhb20 UTSW 18 37505074 missense probably damaging 0.99
R2079:Pcdhb20 UTSW 18 37505171 missense probably benign 0.07
R2350:Pcdhb20 UTSW 18 37504510 missense probably benign 0.01
R2363:Pcdhb20 UTSW 18 37505672 missense probably damaging 1.00
R2364:Pcdhb20 UTSW 18 37505938 missense probably damaging 1.00
R2870:Pcdhb20 UTSW 18 37505780 missense possibly damaging 0.82
R2870:Pcdhb20 UTSW 18 37505780 missense possibly damaging 0.82
R4060:Pcdhb20 UTSW 18 37506164 missense probably damaging 1.00
R4609:Pcdhb20 UTSW 18 37505796 missense probably benign 0.02
R4750:Pcdhb20 UTSW 18 37506131 missense possibly damaging 0.48
R4897:Pcdhb20 UTSW 18 37506245 missense possibly damaging 0.70
R4970:Pcdhb20 UTSW 18 37506771 missense probably benign 0.00
R5098:Pcdhb20 UTSW 18 37504805 missense probably damaging 1.00
R5616:Pcdhb20 UTSW 18 37504532 missense probably damaging 0.97
R5890:Pcdhb20 UTSW 18 37505233 missense probably benign 0.00
R6225:Pcdhb20 UTSW 18 37504994 missense probably damaging 1.00
R6248:Pcdhb20 UTSW 18 37506232 missense probably damaging 0.99
R6419:Pcdhb20 UTSW 18 37505555 missense probably damaging 1.00
R6814:Pcdhb20 UTSW 18 37506165 missense probably benign 0.22
R6821:Pcdhb20 UTSW 18 37506122 missense probably damaging 1.00
R6824:Pcdhb20 UTSW 18 37505699 missense probably benign 0.06
R6872:Pcdhb20 UTSW 18 37506165 missense probably benign 0.22
R7040:Pcdhb20 UTSW 18 37504717 missense probably benign 0.00
R7145:Pcdhb20 UTSW 18 37505089 missense not run
Posted On2014-02-04