Incidental Mutation 'R0854:Gng7'
ID 82661
Institutional Source Beutler Lab
Gene Symbol Gng7
Ensembl Gene ENSMUSG00000048240
Gene Name guanine nucleotide binding protein (G protein), gamma 7
Synonyms
MMRRC Submission 039033-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0854 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80784463-80850742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80787507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000113798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092285] [ENSMUST00000099462] [ENSMUST00000117805] [ENSMUST00000118233] [ENSMUST00000118465] [ENSMUST00000126317]
AlphaFold Q61016
Predicted Effect possibly damaging
Transcript: ENSMUST00000092285
AA Change: V53A

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089936
Gene: ENSMUSG00000048240
AA Change: V53A

DomainStartEndE-ValueType
G_gamma 5 69 2.33e-26 SMART
GGL 8 69 5.94e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000099462
AA Change: V53A

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097061
Gene: ENSMUSG00000048240
AA Change: V53A

DomainStartEndE-ValueType
G_gamma 5 69 2.33e-26 SMART
GGL 8 69 5.94e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117805
AA Change: V52A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112409
Gene: ENSMUSG00000048240
AA Change: V52A

DomainStartEndE-ValueType
G_gamma 4 68 2.33e-26 SMART
GGL 7 68 5.94e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118233
AA Change: V52A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114003
Gene: ENSMUSG00000048240
AA Change: V52A

DomainStartEndE-ValueType
G_gamma 4 68 2.33e-26 SMART
GGL 7 68 5.94e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118465
AA Change: V52A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113798
Gene: ENSMUSG00000048240
AA Change: V52A

DomainStartEndE-ValueType
G_gamma 4 68 2.33e-26 SMART
GGL 7 68 5.94e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121817
Predicted Effect probably benign
Transcript: ENSMUST00000126317
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit an enhanced startle response, loss of dopamine- and forskolin-stimulated adenylyl cyclase activity in the striatum, and increased mean insulin levels in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G A 11: 69,055,302 (GRCm39) probably null Het
Brox T G 1: 183,069,322 (GRCm39) R128S possibly damaging Het
Cfap57 G A 4: 118,419,069 (GRCm39) T1153I probably benign Het
Ddt C T 10: 75,607,329 (GRCm39) R54H probably benign Het
Epm2aip1 T A 9: 111,101,567 (GRCm39) L180* probably null Het
Fer1l6 A G 15: 58,431,037 (GRCm39) I231V probably benign Het
Hbb-bh2 T C 7: 103,489,272 (GRCm39) H93R probably damaging Het
Muc4 A T 16: 32,599,329 (GRCm39) H3292L possibly damaging Het
Mybpc2 T C 7: 44,166,426 (GRCm39) E188G probably benign Het
Myh4 T C 11: 67,149,973 (GRCm39) L1844P possibly damaging Het
Ncan G T 8: 70,565,202 (GRCm39) R242S probably damaging Het
Nceh1 T A 3: 27,295,468 (GRCm39) L243Q probably damaging Het
Notch4 T A 17: 34,787,546 (GRCm39) S369T probably damaging Het
P3h3 G T 6: 124,831,896 (GRCm39) D296E probably benign Het
Pask T A 1: 93,255,122 (GRCm39) K316M probably damaging Het
Pask T A 1: 93,255,156 (GRCm39) T305S possibly damaging Het
Pask T C 1: 93,255,134 (GRCm39) K312R probably damaging Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Sec24c A G 14: 20,739,408 (GRCm39) Y40C probably damaging Het
Sema6d C T 2: 124,507,222 (GRCm39) T1010M probably damaging Het
Thsd1 G A 8: 22,748,587 (GRCm39) G433E probably damaging Het
Tnfsf18 T A 1: 161,331,237 (GRCm39) I129N probably damaging Het
Tsc22d1 C T 14: 76,655,641 (GRCm39) Q625* probably null Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn2r58 T G 7: 41,486,562 (GRCm39) N778H probably damaging Het
Wdr17 C T 8: 55,156,916 (GRCm39) V7I probably benign Het
Zranb1 T C 7: 132,551,577 (GRCm39) V102A possibly damaging Het
Other mutations in Gng7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Gng7 APN 10 80,787,518 (GRCm39) missense probably damaging 1.00
IGL03054:Gng7 APN 10 80,787,485 (GRCm39) missense probably damaging 1.00
R8524:Gng7 UTSW 10 80,787,537 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TAGGTCAGGAAGATCCCGGCATTC -3'
(R):5'- AGGGAGCCATCACTTCATCCCATC -3'

Sequencing Primer
(F):5'- GATCCCGGCATTCACAATGG -3'
(R):5'- gcttctgtgtctgactatgactg -3'
Posted On 2013-11-08