Incidental Mutation 'IGL03011:Gnat2'
ID 407753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnat2
Ensembl Gene ENSMUSG00000009108
Gene Name G protein subunit alpha transducin 2
Synonyms Gt-2, Gnat-2, Tcalpha
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL03011
Quality Score
Status
Chromosome 3
Chromosomal Location 108000105-108008748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108007368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 262 (T262K)
Ref Sequence ENSEMBL: ENSMUSP00000053818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058669] [ENSMUST00000131856] [ENSMUST00000145101] [ENSMUST00000151326]
AlphaFold P50149
Predicted Effect probably damaging
Transcript: ENSMUST00000058669
AA Change: T262K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053818
Gene: ENSMUSG00000009108
AA Change: T262K

DomainStartEndE-ValueType
G_alpha 13 353 1.53e-221 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130013
Predicted Effect probably benign
Transcript: ENSMUST00000131856
SMART Domains Protein: ENSMUSP00000121533
Gene: ENSMUSG00000009108

DomainStartEndE-ValueType
G_alpha 1 249 5.5e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142568
Predicted Effect probably benign
Transcript: ENSMUST00000145101
SMART Domains Protein: ENSMUSP00000123125
Gene: ENSMUSG00000009108

DomainStartEndE-ValueType
Pfam:G-alpha 4 113 1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151326
SMART Domains Protein: ENSMUSP00000120425
Gene: ENSMUSG00000009108

DomainStartEndE-ValueType
G_alpha 13 232 1.48e-73 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in progressive degeneration of photoreceptors and normal ERG responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Ctsb T A 14: 63,370,806 (GRCm39) I6N probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Elovl5 G T 9: 77,890,066 (GRCm39) K292N probably benign Het
Epb41 G T 4: 131,731,105 (GRCm39) P1T probably damaging Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Nol7 C T 13: 43,554,769 (GRCm39) probably benign Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pkia G T 3: 7,507,142 (GRCm39) E75* probably null Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Tapt1 A G 5: 44,350,529 (GRCm39) F247L possibly damaging Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Gnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Gnat2 UTSW 3 108,002,878 (GRCm39) nonsense probably null
R2422:Gnat2 UTSW 3 108,002,855 (GRCm39) missense probably damaging 1.00
R4832:Gnat2 UTSW 3 108,007,964 (GRCm39) missense probably benign 0.00
R4844:Gnat2 UTSW 3 108,002,831 (GRCm39) missense probably damaging 1.00
R4940:Gnat2 UTSW 3 108,007,932 (GRCm39) missense probably benign
R5430:Gnat2 UTSW 3 108,005,716 (GRCm39) missense probably damaging 1.00
R6109:Gnat2 UTSW 3 108,007,451 (GRCm39) missense probably damaging 1.00
R6870:Gnat2 UTSW 3 108,002,947 (GRCm39) intron probably benign
R8891:Gnat2 UTSW 3 108,005,634 (GRCm39) missense
R9633:Gnat2 UTSW 3 108,002,770 (GRCm39) missense probably benign 0.00
RF018:Gnat2 UTSW 3 108,003,645 (GRCm39) missense unknown
Z1177:Gnat2 UTSW 3 108,007,360 (GRCm39) missense
Posted On 2016-08-02