Incidental Mutation 'R0515:Or9q1'
ID 48205
Institutional Source Beutler Lab
Gene Symbol Or9q1
Ensembl Gene ENSMUSG00000054526
Gene Name olfactory receptor family 9 subfamily Q member 1
Synonyms Olfr1500, GA_x6K02T2RE5P-4160554-4159619, MOR212-4P
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13804823-13805758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13805185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 192 (S192G)
Ref Sequence ENSEMBL: ENSMUSP00000151471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067670] [ENSMUST00000214475] [ENSMUST00000215760] [ENSMUST00000216287] [ENSMUST00000217079] [ENSMUST00000219674]
AlphaFold Q7TQQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000067670
AA Change: S192G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067303
Gene: ENSMUSG00000054526
AA Change: S192G

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.8e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 220 9.5e-9 PFAM
Pfam:7tm_1 41 290 4.1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214475
AA Change: S192G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214579
Predicted Effect probably damaging
Transcript: ENSMUST00000215760
AA Change: S192G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216287
AA Change: S192G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217079
AA Change: S192G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219674
AA Change: S192G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.2355 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Or9q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02004:Or9q1 APN 19 13,805,427 (GRCm39) missense possibly damaging 0.93
IGL03122:Or9q1 APN 19 13,805,014 (GRCm39) missense possibly damaging 0.91
R0003:Or9q1 UTSW 19 13,805,050 (GRCm39) missense probably damaging 1.00
R0003:Or9q1 UTSW 19 13,805,050 (GRCm39) missense probably damaging 1.00
R0118:Or9q1 UTSW 19 13,804,929 (GRCm39) missense possibly damaging 0.74
R0458:Or9q1 UTSW 19 13,805,593 (GRCm39) missense probably benign 0.01
R0507:Or9q1 UTSW 19 13,805,140 (GRCm39) missense possibly damaging 0.49
R0907:Or9q1 UTSW 19 13,805,220 (GRCm39) missense probably damaging 1.00
R1524:Or9q1 UTSW 19 13,805,679 (GRCm39) missense probably damaging 1.00
R2883:Or9q1 UTSW 19 13,805,239 (GRCm39) missense probably damaging 1.00
R4278:Or9q1 UTSW 19 13,805,793 (GRCm39) start gained probably benign
R4824:Or9q1 UTSW 19 13,805,718 (GRCm39) missense probably damaging 1.00
R4981:Or9q1 UTSW 19 13,805,458 (GRCm39) missense probably damaging 1.00
R5785:Or9q1 UTSW 19 13,804,983 (GRCm39) missense probably damaging 1.00
R6597:Or9q1 UTSW 19 13,805,821 (GRCm39) start gained probably benign
R9790:Or9q1 UTSW 19 13,804,914 (GRCm39) missense probably benign 0.00
R9791:Or9q1 UTSW 19 13,804,914 (GRCm39) missense probably benign 0.00
Z1176:Or9q1 UTSW 19 13,805,263 (GRCm39) missense probably damaging 0.99
Z1177:Or9q1 UTSW 19 13,804,897 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- ACACAACTCGATCCTTTTCTGAGGC -3'
(R):5'- CTTCACTTTGCTAGGGAACTCAGGC -3'

Sequencing Primer
(F):5'- CTGACCAGAGTTGTCTCTCAGG -3'
(R):5'- TCCTCAGACAATGGCTGTG -3'
Posted On 2013-06-12