Incidental Mutation 'IGL03011:Gnat2'
ID407753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnat2
Ensembl Gene ENSMUSG00000009108
Gene Nameguanine nucleotide binding protein, alpha transducing 2
SynonymsGt-2, Tcalpha, Gnat-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL03011
Quality Score
Status
Chromosome3
Chromosomal Location108092789-108101432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108100052 bp
ZygosityHeterozygous
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]
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
1700028P14Rik T A 19: 23,652,653 D25V unknown Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Apob C A 12: 7,997,883 P941Q probably damaging Het
Armc9 T A 1: 86,199,916 probably null Het
Arpc5l T C 2: 39,013,718 probably benign Het
Atg2b C A 12: 105,626,362 D1745Y probably damaging Het
Atp9a A G 2: 168,652,632 V651A probably damaging Het
Ccnyl1 T C 1: 64,708,472 I148T possibly damaging Het
Chrna6 A T 8: 27,413,654 W17R possibly damaging Het
Cpne1 G A 2: 156,077,997 H244Y probably damaging Het
Cpxm2 A G 7: 132,049,078 Y618H possibly damaging Het
Csf1r T C 18: 61,110,401 I163T probably benign Het
Ctdsp1 T C 1: 74,395,447 probably benign Het
Ctsb T A 14: 63,133,357 I6N probably benign Het
D430042O09Rik T C 7: 125,852,002 C1102R probably benign Het
Dcbld1 A G 10: 52,284,148 N44S probably damaging Het
Dnah11 C T 12: 118,012,377 C2769Y probably benign Het
Efemp2 C A 19: 5,480,065 Q187K probably damaging Het
Elavl3 A T 9: 22,036,316 I109N probably damaging Het
Elovl5 G T 9: 77,982,784 K292N probably benign Het
Epb41 G T 4: 132,003,794 P1T probably damaging Het
Gm13084 A C 4: 143,811,760 F214V possibly damaging Het
Gm44865 G T 7: 108,565,800 probably benign Het
Kmt2e A T 5: 23,497,542 I951F probably damaging Het
Large2 T C 2: 92,367,582 H258R probably damaging Het
Lnx1 G A 5: 74,685,759 P10L probably benign Het
Lrp6 G A 6: 134,520,417 S209L possibly damaging Het
Mc3r A G 2: 172,249,796 I313V probably benign Het
Med1 T C 11: 98,161,033 D468G possibly damaging Het
Mlxip T C 5: 123,445,951 S526P probably benign Het
Myo15 T C 11: 60,509,531 probably benign Het
Nedd1 T C 10: 92,689,641 D602G possibly damaging Het
Nol7 C T 13: 43,401,293 probably benign Het
Olfr250 T C 9: 38,368,068 I174T possibly damaging Het
Piezo2 T C 18: 63,124,660 D329G probably benign Het
Pkia G T 3: 7,442,082 E75* probably null Het
Ptpn14 A T 1: 189,839,557 T282S probably damaging Het
Ptprg C T 14: 12,219,029 P408S probably damaging Het
Rpa2 A G 4: 132,775,047 I147V probably benign Het
Serpina12 T C 12: 104,031,138 T375A possibly damaging Het
Serpinb11 T A 1: 107,379,816 S326T probably damaging Het
Slc18a1 T C 8: 69,038,863 T500A probably benign Het
Tapt1 A G 5: 44,193,187 F247L possibly damaging Het
Trav8d-2 A G 14: 53,042,761 I69M possibly damaging Het
Other mutations in Gnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Gnat2 UTSW 3 108095562 nonsense probably null
R2422:Gnat2 UTSW 3 108095539 missense probably damaging 1.00
R4832:Gnat2 UTSW 3 108100648 missense probably benign 0.00
R4844:Gnat2 UTSW 3 108095515 missense probably damaging 1.00
R4940:Gnat2 UTSW 3 108100616 missense probably benign
R5430:Gnat2 UTSW 3 108098400 missense probably damaging 1.00
R6109:Gnat2 UTSW 3 108100135 missense probably damaging 1.00
R6870:Gnat2 UTSW 3 108095631 intron probably benign
RF018:Gnat2 UTSW 3 108096329 missense unknown
Z1177:Gnat2 UTSW 3 108100044 missense
Posted On2016-08-02