Incidental Mutation 'IGL01859:Pcdhb20'
ID178235
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: 0.116) question?
Stock #IGL01859
Quality Score
Status
Chromosome18
Chromosomal Location37504264-37507822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 37504563 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 47 (N47K)
Ref Sequence ENSEMBL: ENSMUSP00000137038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
Predicted Effect probably damaging
Transcript: ENSMUST00000052179
AA Change: N47K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: N47K

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S 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
IGL01768:Pcdhb20 APN 18 37506715 missense possibly damaging 0.80
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 probably damaging 1.00
R7165:Pcdhb20 UTSW 18 37505070 missense probably damaging 1.00
R7215:Pcdhb20 UTSW 18 37505386 missense probably benign 0.24
R7265:Pcdhb20 UTSW 18 37505563 missense possibly damaging 0.95
R7372:Pcdhb20 UTSW 18 37506787 missense probably benign 0.00
R7402:Pcdhb20 UTSW 18 37504952 missense probably benign 0.05
R7718:Pcdhb20 UTSW 18 37505651 missense probably damaging 1.00
R7794:Pcdhb20 UTSW 18 37504432 missense probably benign 0.00
R7842:Pcdhb20 UTSW 18 37505059 missense possibly damaging 0.94
R7925:Pcdhb20 UTSW 18 37505059 missense possibly damaging 0.94
R8084:Pcdhb20 UTSW 18 37506173 missense possibly damaging 0.95
R8133:Pcdhb20 UTSW 18 37506610 nonsense probably null
Z1177:Pcdhb20 UTSW 18 37504588 missense possibly damaging 0.95
Posted On2014-05-07