Incidental Mutation 'IGL01374:Pcdhb19'
ID78647
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: 0.081) question?
Stock #IGL01374
Quality Score
Status
Chromosome18
Chromosomal Location37496991-37504128 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37497989 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 279 (Y279F)
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 probably damaging
Transcript: ENSMUST00000059571
AA Change: Y279F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: Y279F

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 131,146,101 H54R probably benign Het
Acsl6 T C 11: 54,338,419 V359A probably damaging Het
Aldh3a2 C T 11: 61,249,002 V435I probably benign Het
Atm A T 9: 53,531,724 S80T possibly damaging Het
Atp8b4 A T 2: 126,383,657 probably benign Het
Atxn1 T C 13: 45,568,427 probably benign Het
Chd3 T C 11: 69,359,980 E641G probably damaging Het
Clpb T C 7: 101,773,128 V346A probably damaging Het
Ctnnbl1 T A 2: 157,836,693 probably null Het
Cyp2b19 C T 7: 26,759,079 P73L probably benign Het
Dcc T C 18: 71,374,553 Y916C probably damaging Het
Fat4 A G 3: 38,887,498 N180S probably damaging Het
Foxi1 A C 11: 34,207,984 C14G probably damaging Het
Fut4 G T 9: 14,751,490 F169L probably benign Het
Grip1 T C 10: 120,049,368 S748P probably benign Het
Hnrnpr T C 4: 136,327,418 probably benign Het
Ifnz G A 4: 88,783,341 probably benign Het
Krt28 A G 11: 99,371,468 V232A probably benign Het
Lyar C A 5: 38,228,047 probably null Het
Manba G A 3: 135,554,780 W575* probably null Het
Morc3 T A 16: 93,844,213 D44E probably damaging Het
Mrc2 T A 11: 105,347,643 Y1205* probably null Het
Myh2 A T 11: 67,177,424 T293S probably benign Het
Nlrp10 T A 7: 108,924,581 K564I possibly damaging Het
Nuak1 A G 10: 84,374,668 S519P probably damaging Het
Olfr1158 T C 2: 87,990,548 F146L probably benign Het
Olfr358 T C 2: 37,004,930 H228R probably benign Het
Padi2 T A 4: 140,933,185 N325K probably damaging Het
Phldb1 A G 9: 44,696,167 L1247P probably damaging Het
Rmdn3 A G 2: 119,153,947 V108A probably damaging Het
Slc22a5 A G 11: 53,867,664 F437L probably benign Het
Slc3a2 C T 19: 8,713,337 probably null Het
Slc5a3 T A 16: 92,077,118 M21K probably benign Het
Spink5 T A 18: 43,989,404 F312Y possibly damaging Het
Stab1 T C 14: 31,147,075 Y1531C probably damaging Het
Tln2 C A 9: 67,261,923 A433S probably damaging Het
Usp24 C T 4: 106,380,099 L1076F possibly damaging Het
Vmn2r117 T C 17: 23,478,382 Y112C possibly damaging Het
Vmn2r16 C T 5: 109,330,417 L13F probably benign Het
Vmn2r76 T C 7: 86,225,649 M707V probably benign Het
Zmym4 A T 4: 126,868,957 F1358I probably damaging Het
Other mutations in Pcdhb19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02070:Pcdhb19 APN 18 37498544 missense probably damaging 1.00
IGL02348:Pcdhb19 APN 18 37498808 missense probably damaging 1.00
IGL02866:Pcdhb19 APN 18 37499110 missense possibly damaging 0.91
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
R7991:Pcdhb19 UTSW 18 37497667 missense probably benign 0.43
R8041:Pcdhb19 UTSW 18 37497314 missense possibly damaging 0.87
X0062:Pcdhb19 UTSW 18 37497175 missense probably benign
Z1177:Pcdhb19 UTSW 18 37498445 missense probably damaging 1.00
Posted On2013-11-05