Incidental Mutation 'R2170:Gngt2'
ID 237441
Institutional Source Beutler Lab
Gene Symbol Gngt2
Ensembl Gene ENSMUSG00000038811
Gene Name guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2170 (G1)
Quality Score 147
Status Not validated
Chromosome 11
Chromosomal Location 95733045-95736557 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 95728071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000059026] [ENSMUST00000107712] [ENSMUST00000133070]
AlphaFold Q61017
Predicted Effect probably benign
Transcript: ENSMUST00000059026
SMART Domains Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Pfam:Abi_HHR 96 168 4.3e-31 PFAM
low complexity region 206 225 N/A INTRINSIC
low complexity region 233 252 N/A INTRINSIC
low complexity region 259 303 N/A INTRINSIC
SH3 312 367 1.41e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107712
SMART Domains Protein: ENSMUSP00000103340
Gene: ENSMUSG00000038811

DomainStartEndE-ValueType
G_gamma 5 69 6.71e-18 SMART
GGL 8 69 9.66e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131049
Predicted Effect probably benign
Transcript: ENSMUST00000133070
SMART Domains Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

DomainStartEndE-ValueType
low complexity region 95 108 N/A INTRINSIC
low complexity region 148 167 N/A INTRINSIC
low complexity region 173 213 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
ZnF_C2H2 244 267 7.9e-4 SMART
ZnF_C2H2 271 291 6.15e1 SMART
ZnF_C2H2 298 321 1.76e-1 SMART
ZnF_C2H2 328 350 2.53e-2 SMART
ZnF_C2H2 356 378 6.78e-3 SMART
ZnF_C2H2 384 406 2.95e-3 SMART
ZnF_C2H2 412 434 1.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137645
SMART Domains Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381

DomainStartEndE-ValueType
Pfam:Abi_HHR 1 49 8.8e-14 PFAM
low complexity region 87 106 N/A INTRINSIC
low complexity region 114 133 N/A INTRINSIC
low complexity region 140 183 N/A INTRINSIC
SH3 192 244 2.89e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143492
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,896 (GRCm39) S404P probably damaging Het
4933434E20Rik T A 3: 89,963,611 (GRCm39) L89Q probably benign Het
Atxn2l T A 7: 126,102,411 (GRCm39) probably benign Het
Bcl6 A G 16: 23,793,680 (GRCm39) F89S probably damaging Het
Ccdc168 A T 1: 44,095,168 (GRCm39) S1977T probably benign Het
Ccr1l1 C A 9: 123,778,172 (GRCm39) V92F possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Chrne T C 11: 70,509,323 (GRCm39) N86S probably damaging Het
Copg2 CCTCATC CC 6: 30,789,757 (GRCm39) probably null Het
Elapor2 A G 5: 9,529,206 (GRCm39) D221G probably damaging Het
Eps8l2 T C 7: 140,921,984 (GRCm39) S21P probably benign Het
Glb1 CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 9: 114,302,873 (GRCm39) probably benign Het
Hecw2 T A 1: 53,981,956 (GRCm39) E135V probably damaging Het
Hmcn2 G A 2: 31,270,293 (GRCm39) A1177T probably benign Het
Itga10 T C 3: 96,557,773 (GRCm39) V272A probably damaging Het
Kif17 A G 4: 138,015,682 (GRCm39) I418M probably benign Het
Knl1 T C 2: 118,918,075 (GRCm39) probably null Het
Lamc1 C T 1: 153,124,888 (GRCm39) A628T probably benign Het
Mag A T 7: 30,608,412 (GRCm39) L234* probably null Het
Muc5ac T A 7: 141,366,084 (GRCm39) V2080E possibly damaging Het
Myo18b T C 5: 112,871,724 (GRCm39) D2119G probably benign Het
Ncam1 C T 9: 49,709,981 (GRCm39) A17T probably benign Het
Nipbl A G 15: 8,322,702 (GRCm39) Y2570H probably damaging Het
Oasl2 T C 5: 115,044,861 (GRCm39) V129A probably damaging Het
Or14a257 T A 7: 86,137,778 (GRCm39) H327L probably benign Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Podn A T 4: 107,879,730 (GRCm39) L85Q probably damaging Het
Ppp1r12c A T 7: 4,485,805 (GRCm39) D680E possibly damaging Het
Prdm14 G A 1: 13,192,684 (GRCm39) L352F probably damaging Het
Prob1 G T 18: 35,787,790 (GRCm39) Q155K probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Shoc1 A G 4: 59,069,215 (GRCm39) L737S possibly damaging Het
Stard5 A G 7: 83,282,366 (GRCm39) T60A probably benign Het
Syt7 A G 19: 10,416,744 (GRCm39) K402E probably damaging Het
Tll2 T A 19: 41,171,714 (GRCm39) D69V probably damaging Het
Vmn1r40 T C 6: 89,691,957 (GRCm39) F258S probably benign Het
Zfp759 T A 13: 67,284,812 (GRCm39) Y19N possibly damaging Het
Other mutations in Gngt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1929:Gngt2 UTSW 11 95,735,972 (GRCm39) splice site probably benign
R9771:Gngt2 UTSW 11 95,728,124 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACAGAAAGAGGGATGCCTTCC -3'
(R):5'- TCAGGCTGCGATCTGCTTTC -3'

Sequencing Primer
(F):5'- ATCCTTACCTGGCCCAGTGTG -3'
(R):5'- GCGATCTGCTTTCCCAATG -3'
Posted On 2014-10-02