Incidental Mutation 'IGL02253:Pdcl3'
ID 286516
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: 0.374) question?
Stock # IGL02253
Quality Score
Status
Chromosome 1
Chromosomal Location 39026895-39036317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39034011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 51 (D51G)
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: D51G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027247
Gene: ENSMUSG00000026078
AA Change: D51G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,807,182 (GRCm39) E76G probably benign Het
Adamtsl2 A T 2: 26,988,709 (GRCm39) T587S possibly damaging Het
Adgre4 T A 17: 56,067,573 (GRCm39) M9K probably benign Het
Aff2 T A X: 68,874,397 (GRCm39) V447E probably benign Het
Arhgef10l G T 4: 140,271,595 (GRCm39) S425* probably null Het
Cabcoco1 T C 10: 68,272,107 (GRCm39) probably null Het
Calcr T A 6: 3,707,523 (GRCm39) H259L probably benign Het
Cdc42bpa T A 1: 179,859,161 (GRCm39) probably benign Het
Cntnap5b C T 1: 100,091,936 (GRCm39) H540Y possibly damaging Het
Cyp2a22 A T 7: 26,637,662 (GRCm39) probably benign Het
Ddx3x T C X: 13,151,207 (GRCm39) probably benign Het
Dnajc11 T A 4: 152,034,976 (GRCm39) Y28* probably null Het
Dock11 T C X: 35,304,781 (GRCm39) F1472S probably damaging Het
Dusp18 T C 11: 3,847,576 (GRCm39) *189Q probably null Het
Dzip3 A T 16: 48,765,287 (GRCm39) Y476N probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Evc2 T A 5: 37,535,771 (GRCm39) probably benign Het
Fam151b A T 13: 92,614,435 (GRCm39) Y18N probably damaging Het
Gk5 T C 9: 96,019,824 (GRCm39) F120S probably damaging Het
Itprid2 A G 2: 79,490,788 (GRCm39) T969A probably damaging Het
Kcna3 T C 3: 106,944,727 (GRCm39) L330P probably damaging Het
Kctd20 A G 17: 29,180,460 (GRCm39) N7S probably benign Het
Kmt2b G T 7: 30,281,152 (GRCm39) R1276S probably damaging Het
Kmt2d C T 15: 98,756,056 (GRCm39) probably benign Het
L2hgdh G A 12: 69,752,534 (GRCm39) probably benign Het
Lifr T G 15: 7,220,085 (GRCm39) V905G probably damaging Het
Mcm3ap T A 10: 76,305,899 (GRCm39) V4E probably benign Het
Nrip3 A C 7: 109,360,951 (GRCm39) probably null Het
Nsun2 T G 13: 69,767,658 (GRCm39) V204G possibly damaging Het
Nup54 A G 5: 92,565,310 (GRCm39) probably null Het
Or5p69 T A 7: 107,967,261 (GRCm39) V188E possibly damaging Het
Or8c16 T A 9: 38,131,031 (GRCm39) M304K probably benign Het
Pdlim1 T C 19: 40,218,974 (GRCm39) E219G probably damaging Het
Pld4 A C 12: 112,733,141 (GRCm39) K239T probably damaging Het
Rgsl1 T C 1: 153,669,513 (GRCm39) Y291C probably damaging Het
Rnf213 C A 11: 119,331,476 (GRCm39) H2228Q probably benign Het
Rnf222 T A 11: 68,783,862 (GRCm39) I143N probably damaging Het
Sirt7 A G 11: 120,511,693 (GRCm39) I13T probably benign Het
Slfn10-ps A G 11: 82,919,890 (GRCm39) noncoding transcript Het
Slx4ip T C 2: 136,842,195 (GRCm39) probably null Het
Spata18 G T 5: 73,825,939 (GRCm39) S164I possibly damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Stk26 T C X: 49,975,565 (GRCm39) L212P probably damaging Het
Tmsb15a T C X: 134,620,451 (GRCm39) I56V probably benign Het
Tnrc6b T A 15: 80,760,742 (GRCm39) S150T probably damaging Het
Tubb3 T C 8: 124,147,559 (GRCm39) M164T probably benign Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zyg11a A C 4: 108,040,892 (GRCm39) V685G probably null Het
Other mutations in Pdcl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03341:Pdcl3 APN 1 39,034,976 (GRCm39) missense probably benign 0.17
IGL03353:Pdcl3 APN 1 39,034,917 (GRCm39) missense probably benign 0.08
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 2015-04-16