Incidental Mutation 'R8140:Or9q2'
ID 632509
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 067568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R8140 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13772029-13772973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13772603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 124 (V124E)
Ref Sequence ENSEMBL: ENSMUSP00000149151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061993] [ENSMUST00000217384]
AlphaFold Q8VG11
Predicted Effect possibly damaging
Transcript: ENSMUST00000061993
AA Change: V124E

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: V124E

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 possibly damaging
Transcript: ENSMUST00000217384
AA Change: V124E

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 93.9%
Validation Efficiency 97% (64/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,954 (GRCm39) V230E possibly damaging Het
Amotl1 G A 9: 14,484,011 (GRCm39) probably null Het
Atp7b C A 8: 22,518,576 (GRCm39) E87D probably damaging Het
Bcat2 C T 7: 45,237,775 (GRCm39) P347L probably damaging Het
Brox A T 1: 183,075,437 (GRCm39) probably null Het
Cd37 A G 7: 44,887,959 (GRCm39) I58T probably damaging Het
Cep295 A T 9: 15,252,829 (GRCm39) M333K probably benign Het
Chtop A G 3: 90,412,700 (GRCm39) probably null Het
Cpa2 A T 6: 30,544,904 (GRCm39) K54N probably benign Het
Cpa6 A G 1: 10,395,519 (GRCm39) S383P probably damaging Het
Dnah7a A T 1: 53,540,748 (GRCm39) I2542N probably benign Het
Eif5b G A 1: 38,090,357 (GRCm39) V1179I probably benign Het
Erbin T C 13: 104,056,802 (GRCm39) probably null Het
Fastkd5 A T 2: 130,457,170 (GRCm39) D473E possibly damaging Het
Fchsd1 T C 18: 38,097,395 (GRCm39) E372G probably damaging Het
Fgl1 T C 8: 41,653,646 (GRCm39) probably null Het
Fzd8 T G 18: 9,213,797 (GRCm39) V293G probably damaging Het
Gm4787 T A 12: 81,424,925 (GRCm39) H411L probably benign Het
Gm49380 G T 9: 44,023,269 (GRCm39) D326E probably benign Het
Hcrtr1 G A 4: 130,029,083 (GRCm39) R240C probably damaging Het
Hdac5 A T 11: 102,088,181 (GRCm39) Y948N probably damaging Het
Hepacam A G 9: 37,295,167 (GRCm39) S301G probably benign Het
Htra4 A T 8: 25,520,574 (GRCm39) D362E possibly damaging Het
Ighv1-9 G A 12: 114,547,361 (GRCm39) P60L probably damaging Het
Kcnq3 A G 15: 65,867,390 (GRCm39) I751T probably damaging Het
Magi3 T C 3: 103,941,402 (GRCm39) Y851C probably damaging Het
Mefv A G 16: 3,531,499 (GRCm39) S470P probably benign Het
Mfsd2a C T 4: 122,843,091 (GRCm39) V397I probably benign Het
Mroh1 C A 15: 76,318,073 (GRCm39) H867N probably benign Het
Mthfd1l C T 10: 3,957,745 (GRCm39) R261* probably null Het
Myo3a A G 2: 22,412,157 (GRCm39) I725M probably damaging Het
Neb T C 2: 52,099,552 (GRCm39) D4766G possibly damaging Het
Nek11 G T 9: 105,270,156 (GRCm39) P22Q probably damaging Het
Or4p18 T C 2: 88,232,457 (GRCm39) T274A possibly damaging Het
Or5k15 T C 16: 58,709,948 (GRCm39) T212A probably benign Het
Peg10 C G 6: 4,756,113 (GRCm39) Q230E unknown Het
Pipox T C 11: 77,774,735 (GRCm39) D116G probably benign Het
Pkd1l2 C T 8: 117,774,236 (GRCm39) R993H probably benign Het
Pkdrej A C 15: 85,702,611 (GRCm39) N1108K probably damaging Het
Polr2a C T 11: 69,637,202 (GRCm39) R291Q probably benign Het
Pomt1 T A 2: 32,134,309 (GRCm39) Y277N probably damaging Het
Rasal2 A G 1: 157,126,805 (GRCm39) S78P probably damaging Het
Rgl1 A T 1: 152,433,252 (GRCm39) L171Q probably damaging Het
Sfta2 A G 17: 35,912,666 (GRCm39) E14G unknown Het
Sh3rf3 T A 10: 58,885,177 (GRCm39) S353R possibly damaging Het
Slc37a1 A T 17: 31,541,233 (GRCm39) I242F probably damaging Het
Srfbp1 T A 18: 52,621,762 (GRCm39) D274E probably damaging Het
Syne2 T A 12: 75,959,127 (GRCm39) S685R possibly damaging Het
Tenm4 A C 7: 96,544,383 (GRCm39) D2170A probably damaging Het
Tnr A G 1: 159,691,265 (GRCm39) T472A probably damaging Het
Tspan9 T C 6: 127,942,241 (GRCm39) H203R probably damaging Het
Ttn T C 2: 76,601,995 (GRCm39) T18556A possibly damaging Het
Usp25 T A 16: 76,868,569 (GRCm39) Y323* probably null Het
Usp31 G T 7: 121,248,249 (GRCm39) R1065S possibly damaging Het
Vmn2r103 A T 17: 20,032,058 (GRCm39) T611S probably damaging Het
Wdfy4 A G 14: 32,864,317 (GRCm39) V552A Het
Zap70 G T 1: 36,810,262 (GRCm39) R124L possibly damaging Het
Zfand6 A T 7: 84,281,957 (GRCm39) S91T 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
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'- TAGCTGTCCCCACATACGAG -3'
(R):5'- TTCTAATCCAGAAGAACCGCCG -3'

Sequencing Primer
(F):5'- CCCACATACGAGTTTTAACAATGGGG -3'
(R):5'- GACTTCAAACACCAATGTACTTCTTC -3'
Posted On 2020-06-30