Incidental Mutation 'R2988:Or1r1'
ID 257842
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R2988 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73874488-73875432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73874627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 269 (R269L)
Ref Sequence ENSEMBL: ENSMUSP00000149170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053874] [ENSMUST00000117510] [ENSMUST00000214334]
AlphaFold Q8VFY0
Predicted Effect probably benign
Transcript: ENSMUST00000053874
AA Change: R269L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: R269L

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 benign
Transcript: ENSMUST00000117510
AA Change: R269L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: R269L

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 benign
Transcript: ENSMUST00000214334
AA Change: R269L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 C A 12: 80,239,162 (GRCm39) A248S possibly damaging Het
Chd9 A G 8: 91,757,088 (GRCm39) probably null Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Exoc6b T A 6: 84,828,929 (GRCm39) K485I probably damaging Het
Foxn1 C G 11: 78,249,603 (GRCm39) G641R possibly damaging Het
Kcnh7 T A 2: 62,552,172 (GRCm39) I940F probably benign Het
Lipk T C 19: 33,999,137 (GRCm39) F139S probably damaging Het
Nr1h3 T C 2: 91,015,349 (GRCm39) N285S probably damaging Het
Or5p60 G A 7: 107,724,045 (GRCm39) Q142* probably null Het
Ptpro C T 6: 137,420,597 (GRCm39) Q188* probably null Het
Skic3 T A 13: 76,303,808 (GRCm39) M1242K probably benign Het
Slc22a8 A G 19: 8,587,612 (GRCm39) T529A probably benign Het
Spef2 A T 15: 9,682,709 (GRCm39) S591T probably benign Het
Tmem161b C T 13: 84,440,574 (GRCm39) R149* probably null Het
Trp53 T C 11: 69,479,332 (GRCm39) V170A 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
R0906:Or1r1 UTSW 11 73,874,685 (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
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'- GGTACTCTTCTTGACATGCCAG -3'
(R):5'- AGAGACTGCCATCTTCTCAGAG -3'

Sequencing Primer
(F):5'- TCTTGACATGCCAGTTAACCCAG -3'
(R):5'- CATCTTCTCAGAGGGGCTAACAGTG -3'
Posted On 2015-01-11