Incidental Mutation 'R9448:Pdzk1'
ID 714048
Institutional Source Beutler Lab
Gene Symbol Pdzk1
Ensembl Gene ENSMUSG00000038298
Gene Name PDZ domain containing 1
Synonyms Nherf3, 4921513F16Rik, mPDZK1, 1700023D20Rik, 2610507N21Rik, D3Ertd537e
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R9448 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 96736772-96778242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96761922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 178 (D178V)
Ref Sequence ENSEMBL: ENSMUSP00000058936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058865] [ENSMUST00000107069] [ENSMUST00000107070] [ENSMUST00000128789] [ENSMUST00000135031] [ENSMUST00000138014] [ENSMUST00000153256]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000058865
AA Change: D178V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: D178V

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 damaging
Transcript: ENSMUST00000107069
AA Change: D178V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: D178V

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 damaging
Transcript: ENSMUST00000107070
AA Change: D178V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: D178V

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: ENSMUST00000128789
SMART Domains Protein: ENSMUSP00000123166
Gene: ENSMUSG00000038298

DomainStartEndE-ValueType
PDB:2EDZ|A 1 50 3e-32 PDB
SCOP:d1qaua_ 6 50 4e-12 SMART
Blast:PDZ 18 50 7e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000135031
SMART Domains Protein: ENSMUSP00000114157
Gene: ENSMUSG00000038298

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138014
SMART Domains Protein: ENSMUSP00000115584
Gene: ENSMUSG00000038298

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDB:2EEI|A 125 153 2e-7 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000153256
AA Change: D178V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: D178V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,575 (GRCm39) V685A possibly damaging Het
Atg9a G T 1: 75,162,849 (GRCm39) T417K probably benign Het
Atp6v1a T A 16: 43,931,872 (GRCm39) K139* probably null Het
Baz1b T C 5: 135,239,656 (GRCm39) I252T probably damaging Het
Ccdc191 T A 16: 43,759,338 (GRCm39) W380R Het
Cep290 T G 10: 100,395,546 (GRCm39) V2118G probably benign Het
Crb2 A G 2: 37,677,773 (GRCm39) D352G probably benign Het
Csmd3 T C 15: 47,460,315 (GRCm39) D2581G Het
Diras2 T A 13: 52,662,122 (GRCm39) T62S possibly damaging Het
Dmrt1 T C 19: 25,523,255 (GRCm39) V202A possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dph7 A T 2: 24,861,952 (GRCm39) K455M probably damaging Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Ehbp1 T C 11: 22,087,881 (GRCm39) N426S probably benign Het
Exo5 A G 4: 120,778,888 (GRCm39) W326R probably damaging Het
Fam149a T A 8: 45,792,411 (GRCm39) probably null Het
Flii T C 11: 60,606,393 (GRCm39) N1099S probably benign Het
Flvcr1 T C 1: 190,744,406 (GRCm39) T381A possibly damaging Het
Foxl1 T C 8: 121,855,608 (GRCm39) V303A probably benign Het
Fsd1l G T 4: 53,694,826 (GRCm39) E427* probably null Het
Galnt18 A T 7: 111,153,649 (GRCm39) I325N probably damaging Het
Gm5478 T C 15: 101,553,662 (GRCm39) N274S probably damaging Het
Grm7 A T 6: 111,335,193 (GRCm39) T535S probably benign Het
Heatr5b T C 17: 79,068,015 (GRCm39) D1791G probably benign Het
Igkv12-98 T C 6: 68,548,156 (GRCm39) I95T probably damaging Het
Il1rl2 A G 1: 40,366,604 (GRCm39) Y46C probably benign Het
Inhca G T 9: 103,149,781 (GRCm39) Q259K probably benign Het
Kdr T C 5: 76,102,569 (GRCm39) E1186G probably benign Het
Knstrn T C 2: 118,644,975 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ltbp1 C T 17: 75,666,455 (GRCm39) Q1383* probably null Het
Mep1a T C 17: 43,805,869 (GRCm39) probably null Het
Mep1b A G 18: 21,217,199 (GRCm39) D106G probably damaging Het
Moxd2 T C 6: 40,864,160 (GRCm39) N90S probably benign Het
Ms4a4c T A 19: 11,392,317 (GRCm39) probably null Het
Nlrp4e A T 7: 23,000,956 (GRCm39) M84L probably benign Het
Noc2l C A 4: 156,320,781 (GRCm39) R66S probably benign Het
Nox4 A T 7: 87,045,001 (GRCm39) L580F unknown Het
Numb A G 12: 83,888,990 (GRCm39) probably null Het
Or1l4 A G 2: 37,091,221 (GRCm39) probably benign Het
Or5w13 A T 2: 87,523,824 (GRCm39) V134E probably damaging Het
Parp8 T A 13: 117,039,360 (GRCm39) K274* probably null Het
Pcdh1 G A 18: 38,330,492 (GRCm39) P976L probably damaging Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pip5k1c A G 10: 81,141,645 (GRCm39) E111G probably damaging Het
Plcb4 G A 2: 135,752,045 (GRCm39) E84K possibly damaging Het
Prpf39 T A 12: 65,108,034 (GRCm39) Y646N probably benign Het
Psmc6 T C 14: 45,568,483 (GRCm39) F69L probably benign Het
Ptk2 T A 15: 73,215,041 (GRCm39) S46C possibly damaging Het
Ptpn6 G A 6: 124,709,771 (GRCm39) R23W probably damaging Het
Ptprb T A 10: 116,149,819 (GRCm39) Y143* probably null Het
Qrich2 T C 11: 116,338,091 (GRCm39) E141G probably benign Het
Rsf1 G GCCGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn5a A G 9: 119,381,127 (GRCm39) L136P probably damaging Het
Slc12a6 T C 2: 112,179,704 (GRCm39) F676S probably damaging Het
Spata31f1a A T 4: 42,850,250 (GRCm39) Y635* probably null Het
Spata31f1e T C 4: 42,793,440 (GRCm39) R231G probably benign Het
Spata32 C T 11: 103,099,648 (GRCm39) G286R probably damaging Het
Tbx19 T C 1: 164,981,090 (GRCm39) K135E probably damaging Het
Tdrd6 T C 17: 43,936,567 (GRCm39) T1494A probably benign Het
Tmem62 A C 2: 120,808,211 (GRCm39) D71A probably damaging Het
Tnfsf15 A T 4: 63,663,305 (GRCm39) V6D possibly damaging Het
Tulp4 T C 17: 6,248,948 (GRCm39) V182A possibly damaging Het
Vmn2r73 A T 7: 85,522,027 (GRCm39) V104D probably benign Het
Zdhhc8 C A 16: 18,039,558 (GRCm39) G159C Het
Zfy2 A G Y: 2,109,904 (GRCm39) W338R probably damaging Het
Znfx1 T G 2: 166,888,844 (GRCm39) Q788P probably benign Het
Zscan26 A G 13: 21,632,431 (GRCm39) V100A probably benign Het
Other mutations in Pdzk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Pdzk1 APN 3 96,775,742 (GRCm39) missense probably benign
IGL01895:Pdzk1 APN 3 96,776,417 (GRCm39) missense possibly damaging 0.96
IGL01995:Pdzk1 APN 3 96,764,687 (GRCm39) missense probably benign 0.01
IGL02027:Pdzk1 APN 3 96,761,989 (GRCm39) splice site probably benign
R1762:Pdzk1 UTSW 3 96,758,889 (GRCm39) missense probably benign 0.01
R2044:Pdzk1 UTSW 3 96,763,164 (GRCm39) splice site probably benign
R4721:Pdzk1 UTSW 3 96,776,518 (GRCm39) nonsense probably null
R4831:Pdzk1 UTSW 3 96,775,751 (GRCm39) missense probably benign
R5070:Pdzk1 UTSW 3 96,757,637 (GRCm39) missense probably benign 0.05
R6020:Pdzk1 UTSW 3 96,775,742 (GRCm39) missense probably benign
R6049:Pdzk1 UTSW 3 96,758,979 (GRCm39) missense probably benign 0.00
R6816:Pdzk1 UTSW 3 96,761,886 (GRCm39) missense probably benign 0.13
R7065:Pdzk1 UTSW 3 96,775,748 (GRCm39) missense probably benign
R7134:Pdzk1 UTSW 3 96,763,246 (GRCm39) missense probably benign 0.16
R7779:Pdzk1 UTSW 3 96,764,589 (GRCm39) missense probably damaging 1.00
R8097:Pdzk1 UTSW 3 96,757,556 (GRCm39) missense probably benign 0.00
R8350:Pdzk1 UTSW 3 96,759,024 (GRCm39) missense probably benign 0.01
R8450:Pdzk1 UTSW 3 96,759,024 (GRCm39) missense probably benign 0.01
R8805:Pdzk1 UTSW 3 96,758,910 (GRCm39) missense possibly damaging 0.94
R9718:Pdzk1 UTSW 3 96,763,174 (GRCm39) missense
Z1088:Pdzk1 UTSW 3 96,761,873 (GRCm39) missense probably benign
Z1176:Pdzk1 UTSW 3 96,761,873 (GRCm39) missense probably benign
Z1177:Pdzk1 UTSW 3 96,761,873 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCACTGAGACTCTTGCCATTTG -3'
(R):5'- TGTTACCAGAGATTCCACGCAC -3'

Sequencing Primer
(F):5'- GCCATTTGAGTCTGCTCTAAAG -3'
(R):5'- GAGATTCCACGCACCCTTG -3'
Posted On 2022-06-15