Incidental Mutation 'IGL02310:Pdcl2'
ID287769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcl2
Ensembl Gene ENSMUSG00000029235
Gene Namephosducin-like 2
Synonyms1700010B22Rik, 1700016K07Rik, Mgcphlp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02310
Quality Score
Status
Chromosome5
Chromosomal Location76312115-76331156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76317881 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 116 (I116N)
Ref Sequence ENSEMBL: ENSMUSP00000113699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031145] [ENSMUST00000122213]
Predicted Effect probably damaging
Transcript: ENSMUST00000031145
AA Change: I164N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031145
Gene: ENSMUSG00000029235
AA Change: I164N

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: I116N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113699
Gene: ENSMUSG00000029235
AA Change: I116N

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
9530077C05Rik A G 9: 22,424,428 Y114C probably benign Het
Ano4 T A 10: 89,023,878 K382* probably null Het
Bcl9l A G 9: 44,509,305 Y1299C probably damaging Het
Best1 T A 19: 9,989,152 H357L probably benign Het
Cdc26 T C 4: 62,395,029 probably benign Het
Esyt2 C T 12: 116,365,921 L700F probably benign Het
Fkbp15 T C 4: 62,340,316 Y138C probably damaging Het
Gbp6 T C 5: 105,290,975 N16D probably benign Het
Gm44805 A G 7: 19,671,763 *98Q probably null Het
Hecw2 T C 1: 53,923,916 D812G probably null Het
Hic2 G A 16: 17,257,757 R150Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Klhl36 T A 8: 119,869,617 probably null Het
Mug2 C T 6: 122,059,123 probably benign Het
Olfr1410 T C 1: 92,608,065 V76A possibly damaging Het
Pkn2 A G 3: 142,811,580 I482T probably damaging Het
Prss53 T G 7: 127,886,614 D518A probably benign Het
Psme4 A G 11: 30,837,484 D1093G probably benign Het
Tmcc2 A T 1: 132,358,907 I602N probably damaging Het
Tmem55b T C 14: 50,929,210 T187A possibly damaging Het
Ttn C T 2: 76,788,691 V16115I possibly damaging Het
Zbtb21 G T 16: 97,951,790 T459K possibly damaging Het
Other mutations in Pdcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Pdcl2 APN 5 76325112 missense probably damaging 1.00
IGL00796:Pdcl2 APN 5 76319175 missense probably damaging 0.99
IGL02332:Pdcl2 APN 5 76319135 nonsense probably null
IGL02562:Pdcl2 APN 5 76319191 missense probably damaging 1.00
R0288:Pdcl2 UTSW 5 76312497 missense possibly damaging 0.80
R0606:Pdcl2 UTSW 5 76312481 missense probably benign
R2070:Pdcl2 UTSW 5 76324991 critical splice donor site probably null
R6384:Pdcl2 UTSW 5 76331008 splice site probably null
R7055:Pdcl2 UTSW 5 76317924 missense probably benign 0.00
R7414:Pdcl2 UTSW 5 76312512 missense possibly damaging 0.74
R7638:Pdcl2 UTSW 5 76317828 missense probably damaging 1.00
R7688:Pdcl2 UTSW 5 76317923 missense probably benign 0.44
R7718:Pdcl2 UTSW 5 76317999 missense probably damaging 1.00
R7766:Pdcl2 UTSW 5 76317896 missense probably benign 0.00
Z1177:Pdcl2 UTSW 5 76317932 missense possibly damaging 0.87
Posted On2015-04-16