Incidental Mutation 'R9633:Gnat2'
ID 725649
Institutional Source Beutler Lab
Gene Symbol Gnat2
Ensembl Gene ENSMUSG00000009108
Gene Name G protein subunit alpha transducin 2
Synonyms Gt-2, Gnat-2, Tcalpha
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R9633 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108000105-108008748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108002770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 59 (D59E)
Ref Sequence ENSEMBL: ENSMUSP00000053818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058669] [ENSMUST00000131856] [ENSMUST00000145101] [ENSMUST00000151326]
AlphaFold P50149
Predicted Effect probably benign
Transcript: ENSMUST00000058669
AA Change: D59E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053818
Gene: ENSMUSG00000009108
AA Change: D59E

DomainStartEndE-ValueType
G_alpha 13 353 1.53e-221 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131856
AA Change: D7E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121533
Gene: ENSMUSG00000009108
AA Change: D7E

DomainStartEndE-ValueType
G_alpha 1 249 5.5e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145101
AA Change: D59E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123125
Gene: ENSMUSG00000009108
AA Change: D59E

DomainStartEndE-ValueType
Pfam:G-alpha 4 113 1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151326
AA Change: D59E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120425
Gene: ENSMUSG00000009108
AA Change: D59E

DomainStartEndE-ValueType
G_alpha 13 232 1.48e-73 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,613,178 (GRCm39) V319A probably damaging Het
Afap1l1 A C 18: 61,890,795 (GRCm39) S53A possibly damaging Het
Alms1 T A 6: 85,600,125 (GRCm39) N1650K probably damaging Het
Atf6b T A 17: 34,872,507 (GRCm39) V553E possibly damaging Het
Avl9 T A 6: 56,707,634 (GRCm39) I193N probably damaging Het
Ceacam3 A G 7: 16,895,688 (GRCm39) N553D Het
Dnah3 C A 7: 119,550,216 (GRCm39) V389L probably benign Het
Erich6 T C 3: 58,537,277 (GRCm39) M246V probably benign Het
F830016B08Rik A T 18: 60,432,965 (GRCm39) D16V probably damaging Het
Fgfr1 T A 8: 26,060,776 (GRCm39) Y483N probably damaging Het
Fmo4 T A 1: 162,631,191 (GRCm39) M259L probably benign Het
Izumo3 T A 4: 92,034,795 (GRCm39) Y94F probably damaging Het
Kcnb2 A T 1: 15,781,444 (GRCm39) H772L probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Krt6b C T 15: 101,586,996 (GRCm39) V259M probably benign Het
Lingo2 A G 4: 35,709,885 (GRCm39) C32R Het
Lrrtm4 C T 6: 80,000,064 (GRCm39) T492M probably damaging Het
Maea T A 5: 33,526,050 (GRCm39) M242K possibly damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmadhc A T 2: 50,178,988 (GRCm39) S143R probably benign Het
Ms4a8a A G 19: 11,056,956 (GRCm39) V42A probably benign Het
N4bp2l2 A T 5: 150,585,103 (GRCm39) H292Q probably benign Het
Nkx2-2 A G 2: 147,027,686 (GRCm39) Y85H possibly damaging Het
Pramel14 T C 4: 143,720,818 (GRCm39) K41R possibly damaging Het
Psmb9 T A 17: 34,402,119 (GRCm39) D159V probably damaging Het
Rgs4 T A 1: 169,572,843 (GRCm39) D31V possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a14 A G 9: 119,008,528 (GRCm39) S247P probably benign Het
Slc26a7 G A 4: 14,524,540 (GRCm39) T448I possibly damaging Het
Slc7a14 T A 3: 31,278,166 (GRCm39) T480S probably benign Het
Spocd1 T C 4: 129,850,463 (GRCm39) S830P unknown Het
Sycp2 A G 2: 177,998,254 (GRCm39) S1089P probably damaging Het
Tcf4 A T 18: 69,726,382 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,813 (GRCm39) V457A probably benign Het
Tmem131 A T 1: 36,847,069 (GRCm39) I1343N probably damaging Het
Tnrc6c G A 11: 117,638,009 (GRCm39) A1164T probably damaging Het
Tomm5 G A 4: 45,107,982 (GRCm39) R18W probably damaging Het
Ubxn7 T C 16: 32,200,248 (GRCm39) S335P probably benign Het
Unc5c A C 3: 141,495,654 (GRCm39) T508P probably damaging Het
Upp1 G A 11: 9,084,909 (GRCm39) M209I Het
Vmn1r213 A G 13: 23,195,519 (GRCm39) D34G unknown Het
Vmn1r235 G T 17: 21,482,330 (GRCm39) W218C possibly damaging Het
Vmn1r235 G T 17: 21,482,329 (GRCm39) W218L probably benign Het
Vmn2r57 T C 7: 41,076,006 (GRCm39) E502G probably benign Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,247,852 (GRCm39) H1018Q probably damaging Het
Zfp318 T A 17: 46,710,421 (GRCm39) S715T probably damaging Het
Other mutations in Gnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03011:Gnat2 APN 3 108,007,368 (GRCm39) missense probably damaging 1.00
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
RF018:Gnat2 UTSW 3 108,003,645 (GRCm39) missense unknown
Z1177:Gnat2 UTSW 3 108,007,360 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGGACCTACTCTCCAATGTCC -3'
(R):5'- GCAGAACTTTTCCTTACCCGAC -3'

Sequencing Primer
(F):5'- GACCTACTCTCCAATGTCCCTTCC -3'
(R):5'- CTCCTTGTGGTCTGCCGG -3'
Posted On 2022-09-12