Incidental Mutation 'IGL01665:Pcdhb1'
ID 103298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb1
Ensembl Gene ENSMUSG00000051663
Gene Name protocadherin beta 1
Synonyms PcdhbA
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL01665
Quality Score
Status
Chromosome 18
Chromosomal Location 37397991-37400578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37400450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 800 (N800K)
Ref Sequence ENSEMBL: ENSMUSP00000057519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y08
Predicted Effect probably benign
Transcript: ENSMUST00000052366
AA Change: N800K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: N800K

DomainStartEndE-ValueType
CA 45 131 1.04e-1 SMART
CA 155 240 1.23e-19 SMART
CA 264 345 8.4e-27 SMART
CA 369 450 5.31e-15 SMART
CA 474 560 6.27e-26 SMART
CA 590 671 6.05e-10 SMART
Pfam:Cadherin_C_2 687 772 4.7e-18 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T A 9: 54,530,004 (GRCm39) I231L probably benign Het
Adcyap1 T A 17: 93,507,506 (GRCm39) V22D probably damaging Het
Adgra3 T C 5: 50,164,272 (GRCm39) T236A possibly damaging Het
Adipor2 A T 6: 119,338,887 (GRCm39) L122H probably benign Het
Atp1a4 T C 1: 172,074,291 (GRCm39) I321V probably benign Het
Bhmt2 A T 13: 93,799,661 (GRCm39) Y258* probably null Het
C230029F24Rik T A 1: 49,377,253 (GRCm39) noncoding transcript Het
Ccpg1 T A 9: 72,913,159 (GRCm39) F232I probably damaging Het
Cd83 A T 13: 43,955,153 (GRCm39) T195S probably benign Het
Cdcp3 G T 7: 130,848,386 (GRCm39) G847* probably null Het
Cfap70 G A 14: 20,453,186 (GRCm39) T897M probably damaging Het
Cyp3a11 T A 5: 145,805,475 (GRCm39) M181L probably benign Het
Frem2 C T 3: 53,457,083 (GRCm39) V2090I probably benign Het
Gm45234 A G 6: 124,723,571 (GRCm39) probably benign Het
Gm7964 T A 7: 83,406,341 (GRCm39) noncoding transcript Het
Igsf9 T A 1: 172,319,738 (GRCm39) C39* probably null Het
Il1rap A T 16: 26,541,463 (GRCm39) D568V probably damaging Het
Ints7 C T 1: 191,345,331 (GRCm39) probably benign Het
Lsamp C T 16: 41,964,375 (GRCm39) R250* probably null Het
Oit3 T A 10: 59,274,731 (GRCm39) D23V probably damaging Het
Pcdh17 T A 14: 84,684,442 (GRCm39) L303Q probably damaging Het
Plce1 A G 19: 38,513,331 (GRCm39) D210G probably benign Het
Plekhb2 T A 1: 34,908,411 (GRCm39) Y152N probably damaging Het
Rbp3 T C 14: 33,678,088 (GRCm39) S679P probably benign Het
Rps6kc1 T C 1: 190,643,854 (GRCm39) T2A possibly damaging Het
Tmem167 T A 13: 90,246,504 (GRCm39) S9R probably damaging Het
Xpnpep1 A T 19: 52,985,463 (GRCm39) S522T probably benign Het
Other mutations in Pcdhb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Pcdhb1 APN 18 37,400,395 (GRCm39) missense probably benign 0.06
IGL01622:Pcdhb1 APN 18 37,399,366 (GRCm39) missense possibly damaging 0.73
IGL01623:Pcdhb1 APN 18 37,399,366 (GRCm39) missense possibly damaging 0.73
IGL01663:Pcdhb1 APN 18 37,400,186 (GRCm39) missense possibly damaging 0.83
IGL01780:Pcdhb1 APN 18 37,399,575 (GRCm39) missense probably damaging 1.00
IGL02121:Pcdhb1 APN 18 37,398,838 (GRCm39) missense probably benign 0.06
IGL02468:Pcdhb1 APN 18 37,399,231 (GRCm39) missense probably benign 0.21
IGL02602:Pcdhb1 APN 18 37,399,849 (GRCm39) missense probably damaging 1.00
K3955:Pcdhb1 UTSW 18 37,399,026 (GRCm39) missense probably damaging 1.00
R0242:Pcdhb1 UTSW 18 37,399,788 (GRCm39) missense probably benign 0.17
R0242:Pcdhb1 UTSW 18 37,399,788 (GRCm39) missense probably benign 0.17
R0329:Pcdhb1 UTSW 18 37,400,077 (GRCm39) missense possibly damaging 0.59
R0627:Pcdhb1 UTSW 18 37,398,774 (GRCm39) missense probably damaging 1.00
R0848:Pcdhb1 UTSW 18 37,400,475 (GRCm39) missense probably benign 0.00
R1187:Pcdhb1 UTSW 18 37,398,597 (GRCm39) missense probably damaging 1.00
R1290:Pcdhb1 UTSW 18 37,398,283 (GRCm39) missense possibly damaging 0.54
R1928:Pcdhb1 UTSW 18 37,399,233 (GRCm39) nonsense probably null
R1957:Pcdhb1 UTSW 18 37,398,760 (GRCm39) missense probably damaging 1.00
R2897:Pcdhb1 UTSW 18 37,399,516 (GRCm39) missense probably damaging 1.00
R2898:Pcdhb1 UTSW 18 37,399,516 (GRCm39) missense probably damaging 1.00
R3037:Pcdhb1 UTSW 18 37,398,166 (GRCm39) missense probably damaging 1.00
R4193:Pcdhb1 UTSW 18 37,400,199 (GRCm39) missense probably damaging 0.99
R4291:Pcdhb1 UTSW 18 37,398,470 (GRCm39) missense probably damaging 1.00
R4308:Pcdhb1 UTSW 18 37,399,714 (GRCm39) missense probably benign 0.00
R4332:Pcdhb1 UTSW 18 37,398,583 (GRCm39) missense probably damaging 1.00
R4606:Pcdhb1 UTSW 18 37,398,581 (GRCm39) nonsense probably null
R4637:Pcdhb1 UTSW 18 37,398,802 (GRCm39) missense possibly damaging 0.95
R5159:Pcdhb1 UTSW 18 37,399,416 (GRCm39) missense possibly damaging 0.89
R5207:Pcdhb1 UTSW 18 37,399,515 (GRCm39) missense probably damaging 1.00
R5211:Pcdhb1 UTSW 18 37,399,704 (GRCm39) missense probably benign 0.06
R5273:Pcdhb1 UTSW 18 37,398,766 (GRCm39) missense probably benign 0.23
R5335:Pcdhb1 UTSW 18 37,400,308 (GRCm39) missense probably benign 0.00
R5398:Pcdhb1 UTSW 18 37,399,207 (GRCm39) missense probably damaging 1.00
R5452:Pcdhb1 UTSW 18 37,398,811 (GRCm39) missense possibly damaging 0.94
R5837:Pcdhb1 UTSW 18 37,398,880 (GRCm39) missense possibly damaging 0.57
R5882:Pcdhb1 UTSW 18 37,400,230 (GRCm39) missense probably benign 0.05
R5947:Pcdhb1 UTSW 18 37,399,726 (GRCm39) missense possibly damaging 0.74
R6109:Pcdhb1 UTSW 18 37,398,306 (GRCm39) missense possibly damaging 0.69
R7052:Pcdhb1 UTSW 18 37,399,582 (GRCm39) missense probably damaging 1.00
R7082:Pcdhb1 UTSW 18 37,400,044 (GRCm39) missense probably damaging 0.99
R7137:Pcdhb1 UTSW 18 37,400,445 (GRCm39) missense possibly damaging 0.69
R7229:Pcdhb1 UTSW 18 37,399,740 (GRCm39) missense probably damaging 1.00
R7392:Pcdhb1 UTSW 18 37,398,171 (GRCm39) missense possibly damaging 0.95
R7993:Pcdhb1 UTSW 18 37,400,044 (GRCm39) missense probably damaging 1.00
R8704:Pcdhb1 UTSW 18 37,399,402 (GRCm39) missense possibly damaging 0.51
R9498:Pcdhb1 UTSW 18 37,398,516 (GRCm39) missense probably damaging 0.99
R9703:Pcdhb1 UTSW 18 37,399,019 (GRCm39) missense probably damaging 1.00
R9757:Pcdhb1 UTSW 18 37,400,302 (GRCm39) missense probably benign 0.24
T0970:Pcdhb1 UTSW 18 37,399,026 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21