Incidental Mutation 'IGL00796:Pdcl2'
ID 12951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcl2
Ensembl Gene ENSMUSG00000029235
Gene Name phosducin-like 2
Synonyms 1700016K07Rik, 1700010B22Rik, Mgcphlp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL00796
Quality Score
Status
Chromosome 5
Chromosomal Location 76459963-76479003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76467022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 57 (T57I)
Ref Sequence ENSEMBL: ENSMUSP00000113699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031145] [ENSMUST00000122213]
AlphaFold Q78Y63
Predicted Effect probably damaging
Transcript: ENSMUST00000031145
AA Change: T105I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031145
Gene: ENSMUSG00000029235
AA Change: T105I

DomainStartEndE-ValueType
Pfam:Phosducin 8 208 3.8e-20 PFAM
low complexity region 229 236 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122213
AA Change: T57I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113699
Gene: ENSMUSG00000029235
AA Change: T57I

DomainStartEndE-ValueType
Pfam:Phosducin 1 178 2.3e-19 PFAM
low complexity region 181 188 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 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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,742 (GRCm39) T143A probably benign Het
Alk T A 17: 72,212,137 (GRCm39) N802I possibly damaging Het
Aspn A G 13: 49,710,893 (GRCm39) I179M probably damaging Het
Bptf A G 11: 106,945,376 (GRCm39) L2506P probably damaging Het
Cacna1f T A X: 7,497,270 (GRCm39) D1594E probably damaging Het
Chd7 T A 4: 8,847,271 (GRCm39) N1671K possibly damaging Het
Dnah7b T C 1: 46,250,497 (GRCm39) V1706A probably damaging Het
Elmo2 A T 2: 165,133,934 (GRCm39) probably benign Het
Ercc6 T C 14: 32,291,959 (GRCm39) S1108P probably benign Het
Fam53a A T 5: 33,758,171 (GRCm39) D317E probably benign Het
Gria2 T C 3: 80,618,097 (GRCm39) N313D probably benign Het
Itch A T 2: 155,051,002 (GRCm39) H563L probably damaging Het
Kdm1a G A 4: 136,281,558 (GRCm39) A651V probably damaging Het
Myb T G 10: 21,017,698 (GRCm39) Q631P probably benign Het
Myh9 A T 15: 77,681,195 (GRCm39) probably benign Het
Nars2 C A 7: 96,680,786 (GRCm39) L319I probably benign Het
Nars2 T A 7: 96,680,787 (GRCm39) L319Q probably benign Het
Pde6g T A 11: 120,341,390 (GRCm39) I17L probably benign Het
Ppp1r9a T A 6: 5,157,014 (GRCm39) M964K probably benign Het
Ssxb2 A G X: 8,324,459 (GRCm39) probably benign Het
Tonsl T C 15: 76,509,349 (GRCm39) T8A probably benign Het
Zdbf2 T C 1: 63,346,364 (GRCm39) M1581T probably benign Het
Other mutations in Pdcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Pdcl2 APN 5 76,472,959 (GRCm39) missense probably damaging 1.00
IGL02310:Pdcl2 APN 5 76,465,728 (GRCm39) missense probably damaging 1.00
IGL02332:Pdcl2 APN 5 76,466,982 (GRCm39) nonsense probably null
IGL02562:Pdcl2 APN 5 76,467,038 (GRCm39) missense probably damaging 1.00
R0288:Pdcl2 UTSW 5 76,460,344 (GRCm39) missense possibly damaging 0.80
R0606:Pdcl2 UTSW 5 76,460,328 (GRCm39) missense probably benign
R2070:Pdcl2 UTSW 5 76,472,838 (GRCm39) critical splice donor site probably null
R6384:Pdcl2 UTSW 5 76,478,855 (GRCm39) splice site probably null
R7055:Pdcl2 UTSW 5 76,465,771 (GRCm39) missense probably benign 0.00
R7414:Pdcl2 UTSW 5 76,460,359 (GRCm39) missense possibly damaging 0.74
R7638:Pdcl2 UTSW 5 76,465,675 (GRCm39) missense probably damaging 1.00
R7688:Pdcl2 UTSW 5 76,465,770 (GRCm39) missense probably benign 0.44
R7718:Pdcl2 UTSW 5 76,465,846 (GRCm39) missense probably damaging 1.00
R7766:Pdcl2 UTSW 5 76,465,743 (GRCm39) missense probably benign 0.00
R8798:Pdcl2 UTSW 5 76,472,947 (GRCm39) missense probably damaging 1.00
R8945:Pdcl2 UTSW 5 76,465,675 (GRCm39) missense probably damaging 1.00
Z1177:Pdcl2 UTSW 5 76,465,779 (GRCm39) missense possibly damaging 0.87
Posted On 2012-12-06