Incidental Mutation 'R4596:Or9q2'
ID 344414
Institutional Source Beutler Lab
Gene Symbol Or9q2
Ensembl Gene ENSMUSG00000044040
Gene Name olfactory receptor family 9 subfamily Q member 2
Synonyms GA_x6K02T2RE5P-4127765-4126821, Olfr1497, MOR212-1
MMRRC Submission 041812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R4596 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 13772029-13772973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13772264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 237 (T237I)
Ref Sequence ENSEMBL: ENSMUSP00000149151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061993] [ENSMUST00000217384]
AlphaFold Q8VG11
Predicted Effect probably damaging
Transcript: ENSMUST00000061993
AA Change: T237I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: T237I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 302 7e-7 PFAM
Pfam:7tm_1 41 290 5.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217384
AA Change: T237I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,088 (GRCm39) K429E probably benign Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adad1 T C 3: 37,119,341 (GRCm39) S141P probably damaging Het
Anapc4 T C 5: 52,999,060 (GRCm39) V124A probably benign Het
Anxa6 G T 11: 54,885,409 (GRCm39) probably null Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arhgef40 T C 14: 52,224,681 (GRCm39) probably null Het
Asz1 A T 6: 18,103,592 (GRCm39) I116K possibly damaging Het
Bcam T C 7: 19,498,082 (GRCm39) N314D probably damaging Het
Cfi T C 3: 129,662,149 (GRCm39) V376A probably damaging Het
Cipc A G 12: 87,008,728 (GRCm39) T196A probably benign Het
Cnksr1 A G 4: 133,961,189 (GRCm39) V225A possibly damaging Het
Col4a4 G A 1: 82,448,940 (GRCm39) P1217S unknown Het
Dync2h1 C T 9: 6,992,595 (GRCm39) D3996N probably benign Het
Fasl T C 1: 161,615,838 (GRCm39) N6S probably benign Het
Fhod3 A T 18: 25,248,775 (GRCm39) Q1318L probably benign Het
Gmps G T 3: 63,901,338 (GRCm39) E386* probably null Het
Hspa13 C T 16: 75,555,114 (GRCm39) G324D probably benign Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Itgb1bp1 C A 12: 21,322,135 (GRCm39) L101F probably damaging Het
Jak3 T A 8: 72,137,275 (GRCm39) S779T probably damaging Het
Klhl21 G T 4: 152,096,997 (GRCm39) R421L probably benign Het
Mgat4c T C 10: 102,224,422 (GRCm39) F212S probably damaging Het
Msl3l2 T A 10: 55,991,741 (GRCm39) F155L probably benign Het
Nfat5 A G 8: 108,078,132 (GRCm39) K406E possibly damaging Het
Nsd2 A T 5: 34,040,262 (GRCm39) H933L probably damaging Het
Or4c31 A G 2: 88,292,538 (GRCm39) T304A probably benign Het
Or51h5 A G 7: 102,577,458 (GRCm39) T208A possibly damaging Het
Or6f1 A T 7: 85,970,631 (GRCm39) H176Q probably damaging Het
Paxbp1 T C 16: 90,827,435 (GRCm39) I467V probably benign Het
Pcdha8 A C 18: 37,126,611 (GRCm39) Q364H possibly damaging Het
Prr14l T C 5: 32,986,652 (GRCm39) T948A probably benign Het
Ptgfr A T 3: 151,507,430 (GRCm39) V311D probably damaging Het
Ptpn13 A G 5: 103,671,558 (GRCm39) Y495C probably benign Het
Sec61g A T 11: 16,458,127 (GRCm39) S23T probably benign Het
Sema3a G T 5: 13,620,125 (GRCm39) V458F probably damaging Het
Slc16a14 T A 1: 84,907,078 (GRCm39) E65D probably damaging Het
Slc35f6 T C 5: 30,805,406 (GRCm39) M14T probably damaging Het
Slc4a10 A T 2: 62,127,202 (GRCm39) I882F probably damaging Het
Sox17 C A 1: 4,562,860 (GRCm39) E48D possibly damaging Het
Thbs1 A T 2: 117,945,236 (GRCm39) I270F possibly damaging Het
Tia1 A G 6: 86,397,389 (GRCm39) I121V probably benign Het
Trim30d A T 7: 104,121,733 (GRCm39) H337Q probably benign Het
Tvp23b G A 11: 62,774,544 (GRCm39) A63T probably benign Het
U2surp C T 9: 95,367,681 (GRCm39) V437I probably damaging Het
Ube2i T C 17: 25,484,298 (GRCm39) probably benign Het
Vmn1r62 A G 7: 5,678,306 (GRCm39) probably benign Het
Wdr3 G A 3: 100,060,183 (GRCm39) S310F possibly damaging Het
Wdr72 A T 9: 74,058,887 (GRCm39) M327L probably benign Het
Other mutations in Or9q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Or9q2 APN 19 13,772,693 (GRCm39) missense possibly damaging 0.69
IGL02471:Or9q2 APN 19 13,772,589 (GRCm39) missense probably damaging 1.00
R0167:Or9q2 UTSW 19 13,772,931 (GRCm39) missense probably benign 0.03
R0602:Or9q2 UTSW 19 13,772,026 (GRCm39) splice site probably null
R1448:Or9q2 UTSW 19 13,772,140 (GRCm39) nonsense probably null
R2211:Or9q2 UTSW 19 13,772,733 (GRCm39) missense probably benign
R2295:Or9q2 UTSW 19 13,772,108 (GRCm39) missense probably damaging 1.00
R2340:Or9q2 UTSW 19 13,772,135 (GRCm39) missense probably benign 0.00
R3773:Or9q2 UTSW 19 13,772,568 (GRCm39) missense probably benign 0.00
R4676:Or9q2 UTSW 19 13,772,838 (GRCm39) missense possibly damaging 0.91
R4767:Or9q2 UTSW 19 13,772,409 (GRCm39) missense probably damaging 1.00
R4921:Or9q2 UTSW 19 13,772,829 (GRCm39) missense probably benign 0.03
R4930:Or9q2 UTSW 19 13,772,915 (GRCm39) missense probably benign 0.00
R5784:Or9q2 UTSW 19 13,772,710 (GRCm39) missense probably benign 0.00
R7402:Or9q2 UTSW 19 13,772,358 (GRCm39) missense probably damaging 1.00
R7473:Or9q2 UTSW 19 13,772,526 (GRCm39) missense probably benign 0.11
R8140:Or9q2 UTSW 19 13,772,603 (GRCm39) missense possibly damaging 0.91
R9112:Or9q2 UTSW 19 13,772,780 (GRCm39) missense probably damaging 0.98
R9359:Or9q2 UTSW 19 13,772,200 (GRCm39) missense probably damaging 1.00
R9375:Or9q2 UTSW 19 13,772,214 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCTGGAAATCTTTGATCTTC -3'
(R):5'- GACTGTCACAGCCTTCACTC -3'

Sequencing Primer
(F):5'- CCTGGAAATCTTTGATCTTCTCAGAG -3'
(R):5'- CACTCTTTCATTCTGTGGAAACAATG -3'
Posted On 2015-09-25