Incidental Mutation 'IGL03353:Pdcl3'
ID 419802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcl3
Ensembl Gene ENSMUSG00000026078
Gene Name phosducin-like 3
Synonyms 1110061A19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # IGL03353
Quality Score
Status
Chromosome 1
Chromosomal Location 39026895-39036317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39034917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 158 (N158S)
Ref Sequence ENSEMBL: ENSMUSP00000027247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027247] [ENSMUST00000193489] [ENSMUST00000194552]
AlphaFold Q8BVF2
Predicted Effect probably benign
Transcript: ENSMUST00000027247
AA Change: N158S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027247
Gene: ENSMUSG00000026078
AA Change: N158S

DomainStartEndE-ValueType
Pfam:Phosducin 6 207 2.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193073
Predicted Effect probably benign
Transcript: ENSMUST00000193489
SMART Domains Protein: ENSMUSP00000141258
Gene: ENSMUSG00000026078

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194552
SMART Domains Protein: ENSMUSP00000142151
Gene: ENSMUSG00000026078

DomainStartEndE-ValueType
Pfam:Phosducin 1 97 2.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194994
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 member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,175,893 (GRCm39) I176V probably damaging Het
Aldh1l2 T C 10: 83,358,777 (GRCm39) T73A probably benign Het
Btaf1 G T 19: 36,969,900 (GRCm39) L1191F probably damaging Het
Caskin1 G A 17: 24,718,331 (GRCm39) probably benign Het
Clcn3 T C 8: 61,376,022 (GRCm39) T624A probably benign Het
Dicer1 A G 12: 104,679,366 (GRCm39) V537A probably damaging Het
Dock4 A G 12: 40,867,757 (GRCm39) probably null Het
Dsp A T 13: 38,370,671 (GRCm39) Y858F probably damaging Het
Eya1 A G 1: 14,249,751 (GRCm39) Y550H probably damaging Het
Frmpd1 A G 4: 45,261,926 (GRCm39) K204E probably damaging Het
Frrs1l G A 4: 56,968,121 (GRCm39) T217M probably damaging Het
Fsip2 G A 2: 82,807,737 (GRCm39) S1352N possibly damaging Het
Hfm1 T C 5: 107,004,795 (GRCm39) D1177G probably damaging Het
Itih4 G A 14: 30,609,801 (GRCm39) V44I probably damaging Het
Kif2c A G 4: 117,023,533 (GRCm39) M393T probably benign Het
Klhdc10 T A 6: 30,447,991 (GRCm39) probably benign Het
Lrch1 G T 14: 75,095,482 (GRCm39) H119Q probably damaging Het
Ncam2 A T 16: 81,231,788 (GRCm39) N84I probably benign Het
Nlrx1 A G 9: 44,167,890 (GRCm39) V669A probably benign Het
Polk C T 13: 96,625,719 (GRCm39) A362T probably damaging Het
Rnf40 T A 7: 127,192,063 (GRCm39) L403* probably null Het
Skint5 T C 4: 113,599,379 (GRCm39) D720G unknown Het
Snx6 A G 12: 54,812,469 (GRCm39) probably benign Het
St6galnac2 A T 11: 116,581,128 (GRCm39) probably benign Het
Stk26 A T X: 49,959,275 (GRCm39) D62V probably damaging Het
Tgds G A 14: 118,364,919 (GRCm39) Q101* probably null Het
Tmem135 C A 7: 88,791,161 (GRCm39) R421L probably damaging Het
Tspyl4 T A 10: 34,174,135 (GRCm39) V209E probably damaging Het
Tulp2 C A 7: 45,165,696 (GRCm39) P98Q probably damaging Het
Txk C T 5: 72,893,745 (GRCm39) V12I probably benign Het
Usp30 A G 5: 114,259,119 (GRCm39) T398A probably benign Het
Vmn1r8 A G 6: 57,013,776 (GRCm39) T276A probably benign Het
Xdh G A 17: 74,202,781 (GRCm39) A1123V possibly damaging Het
Zfp60 T A 7: 27,447,759 (GRCm39) Y142* probably null Het
Other mutations in Pdcl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Pdcl3 APN 1 39,034,011 (GRCm39) missense probably benign 0.13
IGL03341:Pdcl3 APN 1 39,034,976 (GRCm39) missense probably benign 0.17
R0026:Pdcl3 UTSW 1 39,030,361 (GRCm39) missense probably damaging 1.00
R1636:Pdcl3 UTSW 1 39,034,016 (GRCm39) missense possibly damaging 0.93
R1727:Pdcl3 UTSW 1 39,034,836 (GRCm39) missense possibly damaging 0.94
R1750:Pdcl3 UTSW 1 39,034,946 (GRCm39) missense probably damaging 0.98
R6218:Pdcl3 UTSW 1 39,027,152 (GRCm39) critical splice donor site probably null
R6311:Pdcl3 UTSW 1 39,026,925 (GRCm39) start codon destroyed probably null 0.47
R6995:Pdcl3 UTSW 1 39,034,417 (GRCm39) missense probably benign 0.01
R7934:Pdcl3 UTSW 1 39,026,782 (GRCm39) unclassified probably benign
Posted On 2016-08-02