Incidental Mutation 'IGL03135:Pcdhb19'
ID 410461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb19
Ensembl Gene ENSMUSG00000043313
Gene Name protocadherin beta 19
Synonyms Pcdhb11, PcdhbS
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03135
Quality Score
Status
Chromosome 18
Chromosomal Location 37630049-37637181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37631588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 461 (H461L)
Ref Sequence ENSEMBL: ENSMUSP00000053326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055949] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y01
Predicted Effect probably benign
Transcript: ENSMUST00000055949
SMART Domains Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Cadherin_2 30 112 3.1e-34 PFAM
CA 155 240 7.97e-19 SMART
CA 264 345 6.27e-26 SMART
CA 368 449 2.63e-19 SMART
CA 473 559 7.09e-25 SMART
CA 589 670 2.87e-11 SMART
Pfam:Cadherin_C_2 687 771 7.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059571
AA Change: H461L

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: H461L

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Ccr8 A T 9: 119,923,689 (GRCm39) D268V possibly damaging Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Fsd1 C A 17: 56,297,416 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
H2-M3 G A 17: 37,583,324 (GRCm39) D262N possibly damaging Het
Hdgfl3 G A 7: 81,543,587 (GRCm39) T188M probably damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Naga C A 15: 82,214,942 (GRCm39) V339F probably damaging Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Ywhab A G 2: 163,857,195 (GRCm39) I157V probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T probably benign Het
Other mutations in Pcdhb19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Pcdhb19 APN 18 37,631,042 (GRCm39) missense probably damaging 1.00
IGL02070:Pcdhb19 APN 18 37,631,597 (GRCm39) missense probably damaging 1.00
IGL02348:Pcdhb19 APN 18 37,631,861 (GRCm39) missense probably damaging 1.00
IGL02866:Pcdhb19 APN 18 37,632,163 (GRCm39) missense possibly damaging 0.91
IGL02869:Pcdhb19 APN 18 37,631,690 (GRCm39) missense probably damaging 0.98
IGL03118:Pcdhb19 APN 18 37,632,618 (GRCm39) intron probably benign
IGL03120:Pcdhb19 APN 18 37,631,209 (GRCm39) missense probably benign 0.09
IGL03366:Pcdhb19 APN 18 37,631,665 (GRCm39) missense possibly damaging 0.95
R0147:Pcdhb19 UTSW 18 37,630,235 (GRCm39) missense probably benign 0.01
R0148:Pcdhb19 UTSW 18 37,630,235 (GRCm39) missense probably benign 0.01
R0432:Pcdhb19 UTSW 18 37,632,588 (GRCm39) missense probably benign 0.01
R0609:Pcdhb19 UTSW 18 37,631,005 (GRCm39) missense probably benign
R1438:Pcdhb19 UTSW 18 37,631,015 (GRCm39) missense probably damaging 1.00
R2255:Pcdhb19 UTSW 18 37,630,997 (GRCm39) missense probably benign 0.00
R2265:Pcdhb19 UTSW 18 37,630,736 (GRCm39) missense probably damaging 0.99
R3500:Pcdhb19 UTSW 18 37,630,532 (GRCm39) nonsense probably null
R3708:Pcdhb19 UTSW 18 37,630,442 (GRCm39) missense probably benign 0.04
R4165:Pcdhb19 UTSW 18 37,632,243 (GRCm39) missense probably benign
R4166:Pcdhb19 UTSW 18 37,632,243 (GRCm39) missense probably benign
R4863:Pcdhb19 UTSW 18 37,632,161 (GRCm39) missense probably benign 0.00
R5217:Pcdhb19 UTSW 18 37,630,939 (GRCm39) missense probably benign 0.00
R5770:Pcdhb19 UTSW 18 37,631,090 (GRCm39) missense possibly damaging 0.73
R6031:Pcdhb19 UTSW 18 37,630,776 (GRCm39) missense probably damaging 1.00
R6031:Pcdhb19 UTSW 18 37,630,776 (GRCm39) missense probably damaging 1.00
R6372:Pcdhb19 UTSW 18 37,630,419 (GRCm39) missense probably benign 0.04
R6454:Pcdhb19 UTSW 18 37,632,322 (GRCm39) missense probably benign 0.43
R6985:Pcdhb19 UTSW 18 37,630,211 (GRCm39) missense probably benign 0.00
R7658:Pcdhb19 UTSW 18 37,632,034 (GRCm39) missense probably damaging 0.99
R7662:Pcdhb19 UTSW 18 37,631,788 (GRCm39) missense probably damaging 0.98
R7910:Pcdhb19 UTSW 18 37,630,720 (GRCm39) missense probably benign 0.43
R8041:Pcdhb19 UTSW 18 37,630,367 (GRCm39) missense possibly damaging 0.87
R8318:Pcdhb19 UTSW 18 37,630,999 (GRCm39) missense possibly damaging 0.86
R8989:Pcdhb19 UTSW 18 37,631,476 (GRCm39) missense probably benign 0.04
R9053:Pcdhb19 UTSW 18 37,631,143 (GRCm39) missense probably benign 0.01
R9164:Pcdhb19 UTSW 18 37,631,852 (GRCm39) missense probably damaging 1.00
R9197:Pcdhb19 UTSW 18 37,631,354 (GRCm39) missense probably damaging 1.00
R9309:Pcdhb19 UTSW 18 37,631,858 (GRCm39) missense probably damaging 1.00
R9377:Pcdhb19 UTSW 18 37,632,299 (GRCm39) missense probably damaging 1.00
R9402:Pcdhb19 UTSW 18 37,632,532 (GRCm39) nonsense probably null
R9432:Pcdhb19 UTSW 18 37,630,628 (GRCm39) missense possibly damaging 0.91
R9553:Pcdhb19 UTSW 18 37,631,848 (GRCm39) missense probably damaging 1.00
X0062:Pcdhb19 UTSW 18 37,630,228 (GRCm39) missense probably benign
Z1177:Pcdhb19 UTSW 18 37,631,498 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02