Incidental Mutation 'R9359:Or9q2'
ID 708605
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13772029-13772973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13772200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 258 (M258I)
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: M258I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: M258I

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: M258I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,950,170 (GRCm39) D277G probably damaging Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tbxa2r A G 10: 81,168,958 (GRCm39) S216G probably damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Uspl1 G A 5: 149,146,481 (GRCm39) V411M probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging 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
R4596:Or9q2 UTSW 19 13,772,264 (GRCm39) missense probably damaging 1.00
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
R9375:Or9q2 UTSW 19 13,772,214 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTAGGGTGCCCTGGAAATC -3'
(R):5'- CATTGTTAAAACTCGTATGTGGGGAC -3'

Sequencing Primer
(F):5'- GTGCCCTGGAAATCTTTGATC -3'
(R):5'- ACTCGTATGTGGGGACAGCTAC -3'
Posted On 2022-04-18