Incidental Mutation 'R0906:Or1r1'
ID 83331
Institutional Source Beutler Lab
Gene Symbol Or1r1
Ensembl Gene ENSMUSG00000049041
Gene Name olfactory receptor family 1 subfamily JRmember 1
Synonyms GA_x6K02T2P1NL-4141430-4140486, Olfr398, MOR157-1
MMRRC Submission 039064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R0906 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73874488-73875432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 73874685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 250 (L250V)
Ref Sequence ENSEMBL: ENSMUSP00000149170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053874] [ENSMUST00000117510] [ENSMUST00000214334]
AlphaFold Q8VFY0
Predicted Effect probably damaging
Transcript: ENSMUST00000053874
AA Change: L250V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: L250V

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.5e-5 PFAM
Pfam:7tm_1 41 290 1.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117510
AA Change: L250V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: L250V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 305 3.5e-5 PFAM
Pfam:7tm_1 41 290 6.4e-28 PFAM
Pfam:7tm_4 140 283 4.7e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214334
AA Change: L250V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.3510 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 100% (33/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,665,430 (GRCm39) probably benign Het
Atp7b T C 8: 22,517,842 (GRCm39) H332R probably benign Het
Bace2 C T 16: 97,158,141 (GRCm39) P47L possibly damaging Het
Cyp2c39 A G 19: 39,499,315 (GRCm39) M1V probably null Het
Dcbld2 A G 16: 58,275,610 (GRCm39) E442G probably damaging Het
Gm14496 A G 2: 181,642,308 (GRCm39) T660A probably damaging Het
Gm4945 A C 17: 47,353,796 (GRCm39) noncoding transcript Het
Gm6729 T C 10: 86,376,456 (GRCm39) noncoding transcript Het
Golga1 G A 2: 38,937,655 (GRCm39) R204W probably damaging Het
Guf1 T C 5: 69,723,729 (GRCm39) I348T probably damaging Het
Htra4 T A 8: 25,527,160 (GRCm39) I212L probably benign Het
Itih5 G A 2: 10,253,999 (GRCm39) R750Q probably benign Het
Lgalsl2 T C 7: 5,362,828 (GRCm39) I153T probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Nsd1 T C 13: 55,425,403 (GRCm39) V1520A probably benign Het
Nuak1 C T 10: 84,211,144 (GRCm39) V315I probably damaging Het
Nup205 G T 6: 35,213,827 (GRCm39) G1740C probably damaging Het
Pclo T C 5: 14,726,700 (GRCm39) probably benign Het
Pik3r6 T C 11: 68,426,927 (GRCm39) probably benign Het
Pikfyve T A 1: 65,292,556 (GRCm39) F1336I probably damaging Het
Pla2r1 A G 2: 60,345,291 (GRCm39) I355T possibly damaging Het
Rgs22 A T 15: 36,104,048 (GRCm39) probably benign Het
Sec63 T A 10: 42,677,924 (GRCm39) M312K probably damaging Het
Slc2a5 T C 4: 150,227,287 (GRCm39) I401T probably benign Het
Slc9a8 G T 2: 167,276,787 (GRCm39) probably benign Het
Stab1 T C 14: 30,867,206 (GRCm39) E1718G probably benign Het
Terb1 A T 8: 105,179,268 (GRCm39) I640N probably damaging Het
Tmem217 A G 17: 29,745,490 (GRCm39) L80P probably damaging Het
Topbp1 C T 9: 103,205,792 (GRCm39) P810L probably benign Het
Ttbk2 G A 2: 120,614,262 (GRCm39) R151C probably damaging Het
Vmn2r88 T G 14: 51,655,666 (GRCm39) L626R probably damaging Het
Other mutations in Or1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Or1r1 APN 11 73,875,353 (GRCm39) missense probably damaging 1.00
IGL01116:Or1r1 APN 11 73,875,144 (GRCm39) missense probably damaging 1.00
R0242:Or1r1 UTSW 11 73,874,538 (GRCm39) missense probably benign
R0242:Or1r1 UTSW 11 73,874,538 (GRCm39) missense probably benign
R0647:Or1r1 UTSW 11 73,874,597 (GRCm39) missense probably damaging 0.99
R1581:Or1r1 UTSW 11 73,875,347 (GRCm39) missense probably damaging 1.00
R1792:Or1r1 UTSW 11 73,874,673 (GRCm39) missense probably benign 0.34
R1832:Or1r1 UTSW 11 73,875,319 (GRCm39) missense probably damaging 0.98
R1879:Or1r1 UTSW 11 73,875,368 (GRCm39) missense probably benign 0.00
R2138:Or1r1 UTSW 11 73,875,129 (GRCm39) missense probably damaging 1.00
R2988:Or1r1 UTSW 11 73,874,627 (GRCm39) missense probably benign 0.13
R4557:Or1r1 UTSW 11 73,875,425 (GRCm39) missense probably benign 0.25
R4606:Or1r1 UTSW 11 73,874,718 (GRCm39) missense probably damaging 1.00
R4777:Or1r1 UTSW 11 73,875,221 (GRCm39) missense probably benign 0.01
R4783:Or1r1 UTSW 11 73,874,834 (GRCm39) missense probably damaging 0.97
R5047:Or1r1 UTSW 11 73,875,204 (GRCm39) missense probably damaging 1.00
R5696:Or1r1 UTSW 11 73,875,362 (GRCm39) missense possibly damaging 0.90
R6379:Or1r1 UTSW 11 73,875,099 (GRCm39) missense probably damaging 1.00
R7166:Or1r1 UTSW 11 73,875,121 (GRCm39) missense possibly damaging 0.81
R7254:Or1r1 UTSW 11 73,874,603 (GRCm39) missense probably benign 0.40
R7324:Or1r1 UTSW 11 73,874,669 (GRCm39) missense probably benign 0.06
R7444:Or1r1 UTSW 11 73,874,576 (GRCm39) missense probably damaging 1.00
R7831:Or1r1 UTSW 11 73,875,257 (GRCm39) missense probably damaging 1.00
R8540:Or1r1 UTSW 11 73,875,153 (GRCm39) missense probably damaging 1.00
X0012:Or1r1 UTSW 11 73,875,120 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGACATGCCAGTTAACCCAGACC -3'
(R):5'- TGGCAACCTCTGACACATCAGC -3'

Sequencing Primer
(F):5'- GTGCTGCTCTCCATCTGAAAC -3'
(R):5'- TAACAGTGGTGTTGACCCCT -3'
Posted On 2013-11-08