Incidental Mutation 'R5430:Gnat2'
ID 427115
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 042996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R5430 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 108000105-108008748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108005716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 227 (L227P)
Ref Sequence ENSEMBL: ENSMUSP00000120425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058669] [ENSMUST00000131856] [ENSMUST00000145101] [ENSMUST00000151326]
AlphaFold P50149
Predicted Effect probably damaging
Transcript: ENSMUST00000058669
AA Change: L227P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053818
Gene: ENSMUSG00000009108
AA Change: L227P

DomainStartEndE-ValueType
G_alpha 13 353 1.53e-221 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130013
Predicted Effect probably damaging
Transcript: ENSMUST00000131856
AA Change: L239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121533
Gene: ENSMUSG00000009108
AA Change: L239P

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 damaging
Transcript: ENSMUST00000151326
AA Change: L227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120425
Gene: ENSMUSG00000009108
AA Change: L227P

DomainStartEndE-ValueType
G_alpha 13 232 1.48e-73 SMART
Meta Mutation Damage Score 0.9359 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik T A 9: 39,963,587 (GRCm39) noncoding transcript Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Arhgef1 C A 7: 24,611,732 (GRCm39) probably null Het
Brsk1 T C 7: 4,713,435 (GRCm39) F702L probably benign Het
Chrna3 C T 9: 54,920,192 (GRCm39) V470I probably damaging Het
Cpm A G 10: 117,511,986 (GRCm39) Q310R possibly damaging Het
Dennd5a T C 7: 109,533,447 (GRCm39) T108A probably damaging Het
Dvl3 C T 16: 20,342,481 (GRCm39) R145W probably damaging Het
E4f1 G A 17: 24,663,944 (GRCm39) A532V probably damaging Het
Eid1 A G 2: 125,515,550 (GRCm39) T147A probably damaging Het
Eipr1 A T 12: 28,913,015 (GRCm39) N239Y probably damaging Het
Eml5 T C 12: 98,760,417 (GRCm39) I1777M probably damaging Het
Gm11787 A T 4: 3,512,786 (GRCm39) noncoding transcript Het
H2-T15 C T 17: 36,366,967 (GRCm39) V359I probably benign Het
Jag1 T C 2: 136,943,626 (GRCm39) H190R possibly damaging Het
Kdm7a A G 6: 39,126,276 (GRCm39) W570R possibly damaging Het
Lmbrd1 A G 1: 24,732,061 (GRCm39) T93A possibly damaging Het
Lrch4 T C 5: 137,636,795 (GRCm39) S433P possibly damaging Het
Lrp1 G A 10: 127,376,930 (GRCm39) R4216W probably damaging Het
Magohb A G 6: 131,266,381 (GRCm39) Y42H probably damaging Het
Melk A G 4: 44,309,033 (GRCm39) H130R probably damaging Het
Mettl24 G T 10: 40,613,780 (GRCm39) R173L probably benign Het
Mup4 A T 4: 59,960,044 (GRCm39) H73Q probably damaging Het
Mylk2 A T 2: 152,759,468 (GRCm39) E386V probably damaging Het
Nppb C T 4: 148,070,838 (GRCm39) P71L probably benign Het
Oca2 T C 7: 55,945,208 (GRCm39) V272A probably damaging Het
Or14j6 T A 17: 38,215,304 (GRCm39) I289N probably damaging Het
Or2t6 C T 14: 14,175,692 (GRCm38) R130H probably benign Het
Or4c10 A T 2: 89,760,257 (GRCm39) I35F probably benign Het
Osbpl6 T C 2: 76,416,482 (GRCm39) S628P probably damaging Het
Papola T C 12: 105,775,843 (GRCm39) V253A probably damaging Het
Pex12 T C 11: 83,188,572 (GRCm39) D141G probably damaging Het
Ppm1k A T 6: 57,501,871 (GRCm39) C97* probably null Het
Ptprh T A 7: 4,554,046 (GRCm39) E807V probably damaging Het
Sema3a A T 5: 13,615,730 (GRCm39) T385S probably damaging Het
Sfn T C 4: 133,328,938 (GRCm39) Y48C probably damaging Het
Slc38a8 A G 8: 120,220,959 (GRCm39) I200T probably benign Het
Smarcal1 T C 1: 72,665,776 (GRCm39) V758A probably damaging Het
Stmn4 A G 14: 66,595,463 (GRCm39) M190V possibly damaging Het
Syt3 T G 7: 44,040,337 (GRCm39) L190R possibly damaging Het
Tbl1xr1 T A 3: 22,246,246 (GRCm39) D255E probably benign Het
Ttbk2 C T 2: 120,608,046 (GRCm39) R191H probably damaging Het
Vmn1r238 G T 18: 3,122,521 (GRCm39) L298M possibly damaging Het
Vmn2r45 A C 7: 8,486,333 (GRCm39) Y318* probably null Het
Vsig8 T C 1: 172,387,196 (GRCm39) I24T probably damaging Het
Wdr3 G A 3: 100,064,643 (GRCm39) T166I possibly damaging Het
Zfp354c A G 11: 50,706,022 (GRCm39) I351T probably benign Het
Zfp52 A G 17: 21,775,329 (GRCm39) T8A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TACTAACTGGCCCCAAGTGG -3'
(R):5'- CTACAGCAGAAAGGGTGTTTTC -3'

Sequencing Primer
(F):5'- CAAGTGGCCACCCCTTG -3'
(R):5'- CTGTGGTTACTGATAAAGGTAAGAC -3'
Posted On 2016-09-01