Incidental Mutation 'IGL01373:Pcdhb20'
ID 84072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb20
Ensembl Gene ENSMUSG00000046191
Gene Name protocadherin beta 20
Synonyms Pcdhb14, PcdhbT
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01373
Quality Score
Status
Chromosome 18
Chromosomal Location 37637332-37640713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37639621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 716 (R716W)
Ref Sequence ENSEMBL: ENSMUSP00000137038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ9
Predicted Effect probably benign
Transcript: ENSMUST00000052179
AA Change: R716W

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: R716W

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Pcdhb20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Pcdhb20 APN 18 37,637,738 (GRCm39) missense possibly damaging 0.87
IGL01556:Pcdhb20 APN 18 37,637,852 (GRCm39) missense possibly damaging 0.88
IGL01621:Pcdhb20 APN 18 37,637,860 (GRCm39) missense possibly damaging 0.49
IGL01768:Pcdhb20 APN 18 37,639,768 (GRCm39) missense possibly damaging 0.80
IGL01859:Pcdhb20 APN 18 37,637,616 (GRCm39) missense probably damaging 0.98
IGL02492:Pcdhb20 APN 18 37,639,453 (GRCm39) missense probably benign 0.43
IGL03057:Pcdhb20 APN 18 37,637,851 (GRCm39) missense possibly damaging 0.74
IGL02991:Pcdhb20 UTSW 18 37,639,264 (GRCm39) missense probably damaging 1.00
R0799:Pcdhb20 UTSW 18 37,638,938 (GRCm39) missense probably damaging 1.00
R1465:Pcdhb20 UTSW 18 37,637,750 (GRCm39) missense probably damaging 0.99
R1465:Pcdhb20 UTSW 18 37,637,750 (GRCm39) missense probably damaging 0.99
R2012:Pcdhb20 UTSW 18 37,638,127 (GRCm39) missense probably damaging 0.99
R2079:Pcdhb20 UTSW 18 37,638,224 (GRCm39) missense probably benign 0.07
R2350:Pcdhb20 UTSW 18 37,637,563 (GRCm39) missense probably benign 0.01
R2363:Pcdhb20 UTSW 18 37,638,725 (GRCm39) missense probably damaging 1.00
R2364:Pcdhb20 UTSW 18 37,638,991 (GRCm39) missense probably damaging 1.00
R2870:Pcdhb20 UTSW 18 37,638,833 (GRCm39) missense possibly damaging 0.82
R2870:Pcdhb20 UTSW 18 37,638,833 (GRCm39) missense possibly damaging 0.82
R4060:Pcdhb20 UTSW 18 37,639,217 (GRCm39) missense probably damaging 1.00
R4609:Pcdhb20 UTSW 18 37,638,849 (GRCm39) missense probably benign 0.02
R4750:Pcdhb20 UTSW 18 37,639,184 (GRCm39) missense possibly damaging 0.48
R4897:Pcdhb20 UTSW 18 37,639,298 (GRCm39) missense possibly damaging 0.70
R4970:Pcdhb20 UTSW 18 37,639,824 (GRCm39) missense probably benign 0.00
R5098:Pcdhb20 UTSW 18 37,637,858 (GRCm39) missense probably damaging 1.00
R5616:Pcdhb20 UTSW 18 37,637,585 (GRCm39) missense probably damaging 0.97
R5890:Pcdhb20 UTSW 18 37,638,286 (GRCm39) missense probably benign 0.00
R6225:Pcdhb20 UTSW 18 37,638,047 (GRCm39) missense probably damaging 1.00
R6248:Pcdhb20 UTSW 18 37,639,285 (GRCm39) missense probably damaging 0.99
R6419:Pcdhb20 UTSW 18 37,638,608 (GRCm39) missense probably damaging 1.00
R6814:Pcdhb20 UTSW 18 37,639,218 (GRCm39) missense probably benign 0.22
R6821:Pcdhb20 UTSW 18 37,639,175 (GRCm39) missense probably damaging 1.00
R6824:Pcdhb20 UTSW 18 37,638,752 (GRCm39) missense probably benign 0.06
R6872:Pcdhb20 UTSW 18 37,639,218 (GRCm39) missense probably benign 0.22
R7040:Pcdhb20 UTSW 18 37,637,770 (GRCm39) missense probably benign 0.00
R7145:Pcdhb20 UTSW 18 37,638,142 (GRCm39) missense probably damaging 1.00
R7165:Pcdhb20 UTSW 18 37,638,123 (GRCm39) missense probably damaging 1.00
R7215:Pcdhb20 UTSW 18 37,638,439 (GRCm39) missense probably benign 0.24
R7265:Pcdhb20 UTSW 18 37,638,616 (GRCm39) missense possibly damaging 0.95
R7372:Pcdhb20 UTSW 18 37,639,840 (GRCm39) missense probably benign 0.00
R7402:Pcdhb20 UTSW 18 37,638,005 (GRCm39) missense probably benign 0.05
R7718:Pcdhb20 UTSW 18 37,638,704 (GRCm39) missense probably damaging 1.00
R7794:Pcdhb20 UTSW 18 37,637,485 (GRCm39) missense probably benign 0.00
R7842:Pcdhb20 UTSW 18 37,638,112 (GRCm39) missense possibly damaging 0.94
R8084:Pcdhb20 UTSW 18 37,639,226 (GRCm39) missense possibly damaging 0.95
R8133:Pcdhb20 UTSW 18 37,639,663 (GRCm39) nonsense probably null
R8422:Pcdhb20 UTSW 18 37,637,849 (GRCm39) missense probably damaging 1.00
R8477:Pcdhb20 UTSW 18 37,638,307 (GRCm39) missense probably benign 0.12
R8727:Pcdhb20 UTSW 18 37,638,437 (GRCm39) missense probably damaging 1.00
R8733:Pcdhb20 UTSW 18 37,638,437 (GRCm39) missense probably damaging 1.00
R8951:Pcdhb20 UTSW 18 37,639,146 (GRCm39) missense probably damaging 1.00
R9196:Pcdhb20 UTSW 18 37,638,024 (GRCm39) missense probably benign 0.00
R9384:Pcdhb20 UTSW 18 37,638,024 (GRCm39) missense probably benign 0.00
R9388:Pcdhb20 UTSW 18 37,638,853 (GRCm39) missense probably benign 0.02
R9462:Pcdhb20 UTSW 18 37,639,799 (GRCm39) missense probably benign 0.30
R9667:Pcdhb20 UTSW 18 37,637,839 (GRCm39) missense probably benign 0.00
Z1177:Pcdhb20 UTSW 18 37,637,641 (GRCm39) missense possibly damaging 0.95
Posted On 2013-11-11