Incidental Mutation 'IGL00730:Pdzk1'
ID12975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzk1
Ensembl Gene ENSMUSG00000038298
Gene NamePDZ domain containing 1
SynonymsmPDZK1, 1700023D20Rik, D3Ertd537e, 4921513F16Rik, 2610507N21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL00730
Quality Score
Status
Chromosome3
Chromosomal Location96829284-96870926 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96868426 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 370 (D370G)
Ref Sequence ENSEMBL: ENSMUSP00000118846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029738] [ENSMUST00000058865] [ENSMUST00000107069] [ENSMUST00000107070] [ENSMUST00000153256]
Predicted Effect probably benign
Transcript: ENSMUST00000029738
SMART Domains Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
transmembrane domain 110 127 N/A INTRINSIC
Pfam:GPHR_N 140 207 1.1e-31 PFAM
Pfam:ABA_GPCR 276 446 4.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058865
AA Change: D370G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: D370G

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107069
AA Change: D370G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: D370G

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107070
AA Change: D370G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: D370G

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146645
Predicted Effect probably benign
Transcript: ENSMUST00000153256
AA Change: D370G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: D370G

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
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 encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A C 10: 116,113,026 D198E probably benign Het
Adnp2 A T 18: 80,128,032 I1054N probably benign Het
Carf C T 1: 60,147,418 Q511* probably null Het
Dnaaf5 G T 5: 139,151,668 probably null Het
Gen1 T C 12: 11,261,067 N55D probably damaging Het
Gsdmc4 T A 15: 63,897,804 R190W probably damaging Het
Hsd3b5 A T 3: 98,630,057 S48T probably benign Het
Lactb2 T G 1: 13,647,516 probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Qtrt1 G T 9: 21,419,549 probably null Het
Tmem63c T A 12: 87,077,206 L486Q probably benign Het
Top2b A G 14: 16,389,831 Y223C probably damaging Het
Trpm2 T C 10: 77,942,915 probably null Het
Other mutations in Pdzk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01895:Pdzk1 APN 3 96869101 missense possibly damaging 0.96
IGL01995:Pdzk1 APN 3 96857371 missense probably benign 0.01
IGL02027:Pdzk1 APN 3 96854673 splice site probably benign
R1762:Pdzk1 UTSW 3 96851573 missense probably benign 0.01
R2044:Pdzk1 UTSW 3 96855848 splice site probably benign
R4721:Pdzk1 UTSW 3 96869202 nonsense probably null
R4831:Pdzk1 UTSW 3 96868435 missense probably benign
R5070:Pdzk1 UTSW 3 96850321 missense probably benign 0.05
R6020:Pdzk1 UTSW 3 96868426 missense probably benign
R6049:Pdzk1 UTSW 3 96851663 missense probably benign 0.00
R6816:Pdzk1 UTSW 3 96854570 missense probably benign 0.13
R7065:Pdzk1 UTSW 3 96868432 missense probably benign
R7134:Pdzk1 UTSW 3 96855930 missense probably benign 0.16
R7779:Pdzk1 UTSW 3 96857273 missense probably damaging 1.00
R8097:Pdzk1 UTSW 3 96850240 missense probably benign 0.00
Z1088:Pdzk1 UTSW 3 96854557 missense probably benign
Z1176:Pdzk1 UTSW 3 96854557 missense probably benign
Z1177:Pdzk1 UTSW 3 96854557 missense probably benign
Posted On2012-12-06