Incidental Mutation 'IGL02866:Pcdhb19'
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ID362334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb19
Ensembl Gene ENSMUSG00000043313
Gene Nameprotocadherin beta 19
SynonymsPcdhbS, Pcdhb11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02866
Quality Score
Status
Chromosome18
Chromosomal Location37496991-37504128 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37499110 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 653 (S653P)
Ref Sequence ENSEMBL: ENSMUSP00000053326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055949] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
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 possibly damaging
Transcript: ENSMUST00000059571
AA Change: S653P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: S653P

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Ckmt2 A T 13: 91,858,281 L315* probably null Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Gsdma3 A G 11: 98,629,759 D72G possibly damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Ldah T A 12: 8,238,602 V83D probably benign Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mum1l1 T C X: 139,235,004 V97A probably benign Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Ubc A T 5: 125,387,422 D280E probably benign Het
Wasf3 C A 5: 146,468,321 Q364K probably benign Het
Other mutations in Pcdhb19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Pcdhb19 APN 18 37497989 missense probably damaging 1.00
IGL02070:Pcdhb19 APN 18 37498544 missense probably damaging 1.00
IGL02348:Pcdhb19 APN 18 37498808 missense probably damaging 1.00
IGL02869:Pcdhb19 APN 18 37498637 missense probably damaging 0.98
IGL03118:Pcdhb19 APN 18 37499565 intron probably benign
IGL03120:Pcdhb19 APN 18 37498156 missense probably benign 0.09
IGL03135:Pcdhb19 APN 18 37498535 missense probably benign 0.37
IGL03366:Pcdhb19 APN 18 37498612 missense possibly damaging 0.95
R0147:Pcdhb19 UTSW 18 37497182 missense probably benign 0.01
R0148:Pcdhb19 UTSW 18 37497182 missense probably benign 0.01
R0432:Pcdhb19 UTSW 18 37499535 missense probably benign 0.01
R0609:Pcdhb19 UTSW 18 37497952 missense probably benign
R1438:Pcdhb19 UTSW 18 37497962 missense probably damaging 1.00
R2255:Pcdhb19 UTSW 18 37497944 missense probably benign 0.00
R2265:Pcdhb19 UTSW 18 37497683 missense probably damaging 0.99
R3500:Pcdhb19 UTSW 18 37497479 nonsense probably null
R3708:Pcdhb19 UTSW 18 37497389 missense probably benign 0.04
R4165:Pcdhb19 UTSW 18 37499190 missense probably benign
R4166:Pcdhb19 UTSW 18 37499190 missense probably benign
R4863:Pcdhb19 UTSW 18 37499108 missense probably benign 0.00
R5217:Pcdhb19 UTSW 18 37497886 missense probably benign 0.00
R5770:Pcdhb19 UTSW 18 37498037 missense possibly damaging 0.73
R6031:Pcdhb19 UTSW 18 37497723 missense probably damaging 1.00
R6031:Pcdhb19 UTSW 18 37497723 missense probably damaging 1.00
R6372:Pcdhb19 UTSW 18 37497366 missense probably benign 0.04
R6454:Pcdhb19 UTSW 18 37499269 missense probably benign 0.43
R6985:Pcdhb19 UTSW 18 37497158 missense probably benign 0.00
R7658:Pcdhb19 UTSW 18 37498981 missense probably damaging 0.99
R7662:Pcdhb19 UTSW 18 37498735 missense probably damaging 0.98
R7910:Pcdhb19 UTSW 18 37497667 missense probably benign 0.43
R8041:Pcdhb19 UTSW 18 37497314 missense possibly damaging 0.87
R8318:Pcdhb19 UTSW 18 37497946 missense possibly damaging 0.86
X0062:Pcdhb19 UTSW 18 37497175 missense probably benign
Z1177:Pcdhb19 UTSW 18 37498445 missense probably damaging 1.00
Posted On2015-12-18