Incidental Mutation 'IGL01621:Pcdhb20'
ID 92568
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 # IGL01621
Quality Score
Status
Chromosome 18
Chromosomal Location 37637332-37640713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37637860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 129 (H129Y)
Ref Sequence ENSEMBL: ENSMUSP00000137038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000052179
AA Change: H129Y

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: H129Y

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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Pcdhb20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Pcdhb20 APN 18 37,637,738 (GRCm39) missense possibly damaging 0.87
IGL01373:Pcdhb20 APN 18 37,639,621 (GRCm39) missense probably benign 0.10
IGL01556:Pcdhb20 APN 18 37,637,852 (GRCm39) missense possibly damaging 0.88
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 2013-12-09