Incidental Mutation 'R6312:Gng3'
ID 509850
Institutional Source Beutler Lab
Gene Symbol Gng3
Ensembl Gene ENSMUSG00000071658
Gene Name guanine nucleotide binding protein (G protein), gamma 3
Synonyms 83
MMRRC Submission 044415-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R6312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8814297-8816558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8815997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 7 (V7A)
Ref Sequence ENSEMBL: ENSMUSP00000093978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086058] [ENSMUST00000096259] [ENSMUST00000096753] [ENSMUST00000159634] [ENSMUST00000160556] [ENSMUST00000171649] [ENSMUST00000160897]
AlphaFold P63216
Predicted Effect probably benign
Transcript: ENSMUST00000086058
SMART Domains Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 37 243 3.9e-71 PFAM
Blast:PAC 269 306 4e-7 BLAST
low complexity region 353 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096259
AA Change: V7A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000093978
Gene: ENSMUSG00000071658
AA Change: V7A

DomainStartEndE-ValueType
G_gamma 9 75 1.21e-24 SMART
GGL 13 75 1.68e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096753
SMART Domains Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659

DomainStartEndE-ValueType
SAP 3 37 6.03e-9 SMART
low complexity region 68 126 N/A INTRINSIC
low complexity region 224 240 N/A INTRINSIC
SPRY 287 416 5.23e-32 SMART
Pfam:AAA_33 452 597 1.2e-25 PFAM
low complexity region 637 666 N/A INTRINSIC
low complexity region 700 719 N/A INTRINSIC
low complexity region 728 745 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159571
Predicted Effect probably benign
Transcript: ENSMUST00000159634
SMART Domains Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 37 243 3.9e-71 PFAM
Blast:PAC 269 306 4e-7 BLAST
low complexity region 353 371 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159770
Predicted Effect probably benign
Transcript: ENSMUST00000160556
SMART Domains Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 37 243 3.9e-71 PFAM
Blast:PAC 269 306 4e-7 BLAST
low complexity region 353 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171649
SMART Domains Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 99 302 8.5e-66 PFAM
Blast:PAC 329 366 2e-6 BLAST
low complexity region 413 431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162580
Predicted Effect probably benign
Transcript: ENSMUST00000160897
SMART Domains Protein: ENSMUSP00000125250
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 97 208 2.8e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice display handling- and noise-induced seizures resulting in premature death and reduced growth. Female homozygotes also display reduced inguinal and retroperitoneal fat pads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,936,541 (GRCm39) S472P possibly damaging Het
Aadacl4fm1 A T 4: 144,255,072 (GRCm39) H164L probably benign Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
AC153874.1 T A 10: 77,682,961 (GRCm39) probably benign Het
Acadvl T A 11: 69,902,593 (GRCm39) M375L probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arl4d T C 11: 101,558,079 (GRCm39) *202R probably null Het
B3gat2 G T 1: 23,854,548 (GRCm39) E83* probably null Het
Bmper C A 9: 23,318,087 (GRCm39) Q569K possibly damaging Het
C2cd4d C A 3: 94,271,742 (GRCm39) P336H probably damaging Het
Cct2 A T 10: 116,891,960 (GRCm39) S363T probably benign Het
Cers5 A G 15: 99,644,996 (GRCm39) V119A probably benign Het
Cfhr2 C T 1: 139,758,817 (GRCm39) V78I possibly damaging Het
Crocc2 A T 1: 93,143,432 (GRCm39) K1345* probably null Het
Cyp4f39 T C 17: 32,702,268 (GRCm39) M255T probably benign Het
Dpp6 A T 5: 27,930,669 (GRCm39) I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 (GRCm39) K205* probably null Het
Epg5 T A 18: 78,022,426 (GRCm39) D1056E possibly damaging Het
Fam20a A C 11: 109,565,456 (GRCm39) C452G probably damaging Het
Gnai2 A T 9: 107,512,316 (GRCm39) V34E probably damaging Het
Hdc A G 2: 126,449,326 (GRCm39) V77A possibly damaging Het
Hint1 G A 11: 54,760,816 (GRCm39) C85Y probably benign Het
Kif17 C T 4: 138,015,504 (GRCm39) S551L probably benign Het
Lgr5 A G 10: 115,288,829 (GRCm39) L581P probably damaging Het
Lig4 G T 8: 10,021,739 (GRCm39) N680K probably benign Het
Lipi T A 16: 75,370,803 (GRCm39) Y138F probably damaging Het
Lrp2 C T 2: 69,267,025 (GRCm39) G4294E probably damaging Het
Lrrc7 A G 3: 157,866,246 (GRCm39) M1165T probably benign Het
Mtpap T C 18: 4,396,175 (GRCm39) I489T possibly damaging Het
Nlrp1b T A 11: 71,119,223 (GRCm39) N24I probably benign Het
Nlrp4a A G 7: 26,148,821 (GRCm39) T143A probably benign Het
Nudt2 A G 4: 41,480,386 (GRCm39) T90A probably benign Het
Or1j20 A T 2: 36,760,477 (GRCm39) I300L probably benign Het
Or52n20 T A 7: 104,320,796 (GRCm39) Y296N probably damaging Het
Or8b36 GTTT GTTTGCTGTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TTT TTTGCTGATT 9: 37,937,843 (GRCm39) probably null Het
Or8b36 T TGCTGTTC 9: 37,937,845 (GRCm39) probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Or8k53 A T 2: 86,177,925 (GRCm39) F62I probably damaging Het
Osmr A G 15: 6,853,119 (GRCm39) V592A probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rusf1 T C 7: 127,872,715 (GRCm39) K411R probably benign Het
Slc6a7 A G 18: 61,135,457 (GRCm39) S381P probably benign Het
Slitrk6 A G 14: 110,987,679 (GRCm39) L676P probably benign Het
Sspo T C 6: 48,434,300 (GRCm39) probably null Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Homo
Tma16 T C 8: 66,934,118 (GRCm39) E79G probably damaging Het
Trim14 G T 4: 46,507,257 (GRCm39) H320N probably damaging Het
Trim63 A G 4: 134,053,008 (GRCm39) D323G probably damaging Het
Vash2 C A 1: 190,690,880 (GRCm39) R309L probably benign Het
Vmn1r62 G A 7: 5,679,083 (GRCm39) V255M possibly damaging Het
Vmn2r53 T A 7: 12,332,566 (GRCm39) probably null Het
Zfp382 G A 7: 29,833,963 (GRCm39) R538H probably damaging Het
Zfp592 T A 7: 80,673,184 (GRCm39) D49E probably benign Het
Zfp60 T C 7: 27,448,201 (GRCm39) C290R probably damaging Het
Zfp69 G A 4: 120,806,714 (GRCm39) probably benign Het
Zfp790 G T 7: 29,527,647 (GRCm39) G111W probably damaging Het
Zfp948 T C 17: 21,807,429 (GRCm39) I207T possibly damaging Het
Other mutations in Gng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01682:Gng3 APN 19 8,815,944 (GRCm39) missense probably benign 0.01
R4981:Gng3 UTSW 19 8,815,625 (GRCm39) missense possibly damaging 0.89
R7092:Gng3 UTSW 19 8,815,611 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGTTTCTGCCACTGACCTCAG -3'
(R):5'- ATTTGATGACCAGGACCCAG -3'

Sequencing Primer
(F):5'- CCACTGACCTCAGGGTGTCAAG -3'
(R):5'- CCCAGGGGTTAGGAGAATATTTC -3'
Posted On 2018-04-02