Incidental Mutation 'R6759:Or2ag12'
ID 531143
Institutional Source Beutler Lab
Gene Symbol Or2ag12
Ensembl Gene ENSMUSG00000051680
Gene Name olfactory receptor family 2 subfamily AG member 12
Synonyms Olfr693, MOR283-8, GA_x6K02T2PBJ9-9055944-9054994
MMRRC Submission 044875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R6759 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 106276741-106277692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106277100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 198 (M198L)
Ref Sequence ENSEMBL: ENSMUSP00000150203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057817] [ENSMUST00000215541]
AlphaFold Q8VF89
Predicted Effect probably benign
Transcript: ENSMUST00000057817
AA Change: M198L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059679
Gene: ENSMUSG00000051680
AA Change: M198L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.2e-48 PFAM
Pfam:7tm_1 41 290 5.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215541
AA Change: M198L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,331,692 (GRCm39) S841G probably benign Het
4933427I04Rik G T 4: 123,753,879 (GRCm39) probably benign Het
Aak1 A G 6: 86,921,399 (GRCm39) T199A probably damaging Het
Acnat2 C A 4: 49,380,254 (GRCm39) V375L probably benign Het
Aldh1a7 T C 19: 20,677,320 (GRCm39) T434A possibly damaging Het
Aldh3a2 T C 11: 61,156,088 (GRCm39) T63A probably benign Het
Anxa2 T C 9: 69,391,103 (GRCm39) S97P probably damaging Het
Apip T C 2: 102,922,191 (GRCm39) S186P probably benign Het
Apob A G 12: 8,061,049 (GRCm39) K3177R probably benign Het
Atm C T 9: 53,429,859 (GRCm39) W392* probably null Het
Atp8b1 T A 18: 64,679,161 (GRCm39) R773S probably benign Het
Bicdl2 T A 17: 23,885,718 (GRCm39) probably null Het
Bltp1 C T 3: 37,042,234 (GRCm39) T2740I possibly damaging Het
Cacng3 G A 7: 122,361,547 (GRCm39) probably null Het
Clca3a1 G T 3: 144,455,450 (GRCm39) L448M probably damaging Het
Clk4 A G 11: 51,166,401 (GRCm39) I94M possibly damaging Het
Cnot3 G T 7: 3,654,918 (GRCm39) V124F probably damaging Het
Cyp4a30b C T 4: 115,318,571 (GRCm39) A426V probably benign Het
Dact1 T A 12: 71,364,911 (GRCm39) L564* probably null Het
Dnah8 T A 17: 30,882,266 (GRCm39) probably null Het
Dock5 T A 14: 68,033,445 (GRCm39) T975S probably benign Het
Dock8 C A 19: 25,104,848 (GRCm39) H739Q probably damaging Het
Efr3b T A 12: 4,034,613 (GRCm39) N186Y probably damaging Het
Enam G A 5: 88,649,550 (GRCm39) G278D probably damaging Het
Fgl2 A G 5: 21,578,256 (GRCm39) D181G probably benign Het
Gfra3 G T 18: 34,828,926 (GRCm39) S156* probably null Het
Jam3 G C 9: 27,013,276 (GRCm39) T98S probably benign Het
Ltbp2 A T 12: 84,834,184 (GRCm39) I1435N probably damaging Het
Man2a1 G A 17: 64,932,383 (GRCm39) A157T probably benign Het
Mcm3ap T A 10: 76,337,148 (GRCm39) V1361E probably benign Het
Nobox A T 6: 43,284,538 (GRCm39) L36Q possibly damaging Het
Or51a10 A G 7: 103,699,334 (GRCm39) S76P probably damaging Het
Parp4 G A 14: 56,857,947 (GRCm39) V860I probably benign Het
Pim3 T A 15: 88,747,296 (GRCm39) probably null Het
Ptpn13 A T 5: 103,713,121 (GRCm39) N1748I possibly damaging Het
Rad51ap2 A G 12: 11,507,145 (GRCm39) T356A possibly damaging Het
Ranbp2 C T 10: 58,293,559 (GRCm39) R310* probably null Het
Rassf5 C T 1: 131,109,988 (GRCm39) V190I probably benign Het
Rgl1 T G 1: 152,409,281 (GRCm39) Q481P probably damaging Het
Rrp1b A G 17: 32,276,063 (GRCm39) T537A probably benign Het
Smok3c T A 5: 138,063,699 (GRCm39) S395R probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Strn4 A T 7: 16,556,978 (GRCm39) E145V probably damaging Het
Tex21 T A 12: 76,251,086 (GRCm39) probably null Het
Usp37 G A 1: 74,534,908 (GRCm39) R13* probably null Het
Uty G T Y: 1,174,735 (GRCm39) L222I probably damaging Homo
Wwp2 A G 8: 108,267,314 (GRCm39) T309A probably damaging Het
Zfp40 C T 17: 23,395,510 (GRCm39) R359H possibly damaging Het
Other mutations in Or2ag12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Or2ag12 APN 7 106,277,040 (GRCm39) missense probably damaging 1.00
IGL01135:Or2ag12 APN 7 106,277,400 (GRCm39) missense probably benign 0.41
IGL03247:Or2ag12 APN 7 106,276,754 (GRCm39) missense probably benign 0.01
R0206:Or2ag12 UTSW 7 106,276,781 (GRCm39) missense probably benign 0.03
R1125:Or2ag12 UTSW 7 106,277,214 (GRCm39) missense possibly damaging 0.46
R1873:Or2ag12 UTSW 7 106,277,691 (GRCm39) start codon destroyed probably damaging 1.00
R1969:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1970:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1971:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1972:Or2ag12 UTSW 7 106,277,426 (GRCm39) missense probably benign 0.01
R1973:Or2ag12 UTSW 7 106,277,426 (GRCm39) missense probably benign 0.01
R2570:Or2ag12 UTSW 7 106,276,874 (GRCm39) missense probably benign 0.41
R3975:Or2ag12 UTSW 7 106,276,992 (GRCm39) missense probably damaging 1.00
R4840:Or2ag12 UTSW 7 106,277,330 (GRCm39) missense probably damaging 1.00
R5569:Or2ag12 UTSW 7 106,277,690 (GRCm39) start codon destroyed probably null 1.00
R6842:Or2ag12 UTSW 7 106,277,093 (GRCm39) missense probably damaging 1.00
R7108:Or2ag12 UTSW 7 106,277,255 (GRCm39) missense probably benign 0.03
R7565:Or2ag12 UTSW 7 106,277,333 (GRCm39) missense probably damaging 1.00
R7800:Or2ag12 UTSW 7 106,276,781 (GRCm39) missense probably benign 0.03
R9225:Or2ag12 UTSW 7 106,276,976 (GRCm39) missense probably benign 0.01
X0025:Or2ag12 UTSW 7 106,277,456 (GRCm39) missense probably damaging 1.00
Z1088:Or2ag12 UTSW 7 106,277,664 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGACTGTGAGAGGCCCATAG -3'
(R):5'- GGCCATTTGTCATCCATTGAAC -3'

Sequencing Primer
(F):5'- CTGTGAGAGGCCCATAGTACATC -3'
(R):5'- TTCATGAGGCCAAGCATCTG -3'
Posted On 2018-08-01