Incidental Mutation 'R0167:Or9q2'
ID 24246
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 038443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R0167 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 19
Chromosomal Location 13772029-13772973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13772931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 15 (T15A)
Ref Sequence ENSEMBL: ENSMUSP00000149151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061993] [ENSMUST00000217384]
AlphaFold Q8VG11
Predicted Effect probably benign
Transcript: ENSMUST00000061993
AA Change: T15A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: T15A

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 benign
Transcript: ENSMUST00000217384
AA Change: T15A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.1977 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (58/61)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,806,969 (GRCm39) F431L probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Bltp3a C T 17: 28,099,176 (GRCm39) T246M possibly damaging Het
Bsn T C 9: 108,003,185 (GRCm39) T407A probably benign Het
Ccdc96 T C 5: 36,642,497 (GRCm39) F168L probably benign Het
Cckar A T 5: 53,863,795 (GRCm39) S55R probably damaging Het
Cdh5 A C 8: 104,863,367 (GRCm39) I426L possibly damaging Het
Clcn1 T C 6: 42,263,770 (GRCm39) Y24H probably damaging Het
Clpx G A 9: 65,224,019 (GRCm39) R271K possibly damaging Het
Col6a3 C T 1: 90,725,895 (GRCm39) G1978D probably damaging Het
Cpne2 T C 8: 95,295,207 (GRCm39) probably benign Het
D630023F18Rik A G 1: 65,156,340 (GRCm39) V51A possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dlk2 C A 17: 46,613,530 (GRCm39) R262S possibly damaging Het
Dubr G T 16: 50,553,007 (GRCm39) noncoding transcript Het
Elane T A 10: 79,722,933 (GRCm39) probably null Het
Eya2 T G 2: 165,558,032 (GRCm39) S209R possibly damaging Het
Fam171a1 C T 2: 3,187,469 (GRCm39) S112L probably damaging Het
Fsip2 T A 2: 82,811,151 (GRCm39) M2490K possibly damaging Het
Galnt14 T C 17: 73,829,715 (GRCm39) T277A probably damaging Het
Golga1 T C 2: 38,937,660 (GRCm39) N128S probably benign Het
H1f6 T C 13: 23,879,886 (GRCm39) V13A probably benign Het
Hdac2 T C 10: 36,876,368 (GRCm39) V461A probably benign Het
Hey2 A G 10: 30,716,661 (GRCm39) V34A probably benign Het
Ift22 T C 5: 136,940,745 (GRCm39) C137R probably benign Het
Lrp2 T C 2: 69,256,002 (GRCm39) D4657G possibly damaging Het
Lrrn3 T A 12: 41,504,014 (GRCm39) Q101L probably damaging Het
Med25 A G 7: 44,532,521 (GRCm39) probably null Het
Mup5 T A 4: 61,752,019 (GRCm39) probably null Het
Or51aa5 A T 7: 103,166,708 (GRCm39) Y294* probably null Het
Or5ac23 A T 16: 59,149,337 (GRCm39) C178* probably null Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parg T C 14: 31,939,693 (GRCm39) probably null Het
Prep A G 10: 45,034,326 (GRCm39) probably null Het
Prss1l T A 6: 41,373,195 (GRCm39) probably benign Het
Psip1 T C 4: 83,385,055 (GRCm39) probably null Het
Rbbp8 T A 18: 11,793,979 (GRCm39) Y30* probably null Het
Rhbdd1 T C 1: 82,320,505 (GRCm39) V163A probably benign Het
Setd2 T A 9: 110,402,850 (GRCm39) N1830K probably damaging Het
Shc4 T G 2: 125,564,933 (GRCm39) N122T probably benign Het
Shroom3 T C 5: 93,096,254 (GRCm39) probably benign Het
Snx14 A T 9: 88,289,469 (GRCm39) L261Q probably damaging Het
St8sia1 A G 6: 142,859,907 (GRCm39) probably benign Het
Thbs2 A T 17: 14,887,787 (GRCm39) probably benign Het
Tpp2 T C 1: 44,009,648 (GRCm39) V494A probably benign Het
Trdmt1 A T 2: 13,520,829 (GRCm39) F358I probably damaging Het
Ttn T A 2: 76,719,867 (GRCm39) probably benign Het
Uggt1 A G 1: 36,209,278 (GRCm39) probably null Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vstm2a T A 11: 16,208,044 (GRCm39) F13I probably damaging Het
Zfp804a T G 2: 82,086,860 (GRCm39) F230V probably 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
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
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'- GAGCCATGTTCCCACAGCACAG -3'
(R):5'- CATGGGCCACTTACTCACCATGC -3'

Sequencing Primer
(F):5'- CCAGCATCTGAGGGATGATGAC -3'
(R):5'- TGCCTCCTATAATAGAACTATCCATC -3'
Posted On 2013-04-16