Incidental Mutation 'R1204:Or1af1'
ID 100316
Institutional Source Beutler Lab
Gene Symbol Or1af1
Ensembl Gene ENSMUSG00000068947
Gene Name olfactory receptor family 1 subfamily AF member 1
Synonyms Olfr366, MOR138-5P, MOR138-6, GA_x6K02T2NLDC-33902472-33903401
MMRRC Submission 039274-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1204 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37109503-37110432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37109651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 50 (Q50R)
Ref Sequence ENSEMBL: ENSMUSP00000150608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091001] [ENSMUST00000214897]
AlphaFold Q7TRY4
Predicted Effect probably benign
Transcript: ENSMUST00000091001
AA Change: Q50R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088524
Gene: ENSMUSG00000068947
AA Change: Q50R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5e-62 PFAM
Pfam:7tm_1 41 290 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214897
AA Change: Q50R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,328,214 (GRCm39) I133F probably damaging Het
Acyp1 A T 12: 85,326,866 (GRCm39) probably null Het
Ermap T C 4: 119,046,064 (GRCm39) K22R possibly damaging Het
Glce T C 9: 61,977,849 (GRCm39) T12A probably damaging Het
Hao1 G A 2: 134,364,947 (GRCm39) R227* probably null Het
Hectd4 A G 5: 121,488,548 (GRCm39) D3613G possibly damaging Het
Hspa2 A G 12: 76,451,641 (GRCm39) M112V probably benign Het
Knl1 A G 2: 118,901,670 (GRCm39) I1124V probably benign Het
Lrch3 T C 16: 32,829,584 (GRCm39) I738T probably damaging Het
Mgrn1 T G 16: 4,725,273 (GRCm39) F44V probably damaging Het
Otog G A 7: 45,909,335 (GRCm39) V602M probably benign Het
Pik3r5 T G 11: 68,385,050 (GRCm39) L652V probably benign Het
Pkdrej G A 15: 85,702,513 (GRCm39) T1141M probably damaging Het
Sema3a T C 5: 13,573,142 (GRCm39) probably benign Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tmem214 C T 5: 31,033,134 (GRCm39) A509V probably damaging Het
Tmem25 T C 9: 44,706,529 (GRCm39) E284G probably benign Het
Trim9 T C 12: 70,393,501 (GRCm39) N148D probably damaging Het
Vmn2r107 A G 17: 20,578,031 (GRCm39) R447G probably benign Het
Zfp964 A T 8: 70,116,668 (GRCm39) I423L probably benign Het
Other mutations in Or1af1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Or1af1 APN 2 37,110,038 (GRCm39) missense probably damaging 1.00
IGL01925:Or1af1 APN 2 37,110,058 (GRCm39) missense probably benign 0.14
IGL02355:Or1af1 APN 2 37,109,681 (GRCm39) missense probably damaging 1.00
IGL02362:Or1af1 APN 2 37,109,681 (GRCm39) missense probably damaging 1.00
IGL02671:Or1af1 APN 2 37,110,257 (GRCm39) missense probably damaging 1.00
IGL02821:Or1af1 APN 2 37,110,112 (GRCm39) missense probably damaging 1.00
R0603:Or1af1 UTSW 2 37,110,118 (GRCm39) missense probably damaging 1.00
R0707:Or1af1 UTSW 2 37,110,208 (GRCm39) nonsense probably null
R1457:Or1af1 UTSW 2 37,109,671 (GRCm39) missense possibly damaging 0.95
R1509:Or1af1 UTSW 2 37,109,966 (GRCm39) missense probably damaging 1.00
R1676:Or1af1 UTSW 2 37,109,653 (GRCm39) nonsense probably null
R1823:Or1af1 UTSW 2 37,110,344 (GRCm39) missense probably damaging 0.96
R2163:Or1af1 UTSW 2 37,110,089 (GRCm39) missense probably damaging 1.00
R2909:Or1af1 UTSW 2 37,110,188 (GRCm39) missense probably damaging 0.98
R3696:Or1af1 UTSW 2 37,110,188 (GRCm39) missense probably damaging 0.98
R3698:Or1af1 UTSW 2 37,110,188 (GRCm39) missense probably damaging 0.98
R4004:Or1af1 UTSW 2 37,109,960 (GRCm39) missense probably benign 0.00
R4655:Or1af1 UTSW 2 37,109,885 (GRCm39) missense probably benign 0.03
R5311:Or1af1 UTSW 2 37,109,633 (GRCm39) missense probably benign 0.00
R5385:Or1af1 UTSW 2 37,109,599 (GRCm39) missense possibly damaging 0.77
R5433:Or1af1 UTSW 2 37,109,684 (GRCm39) missense probably damaging 1.00
R5499:Or1af1 UTSW 2 37,109,777 (GRCm39) missense possibly damaging 0.81
R5707:Or1af1 UTSW 2 37,109,901 (GRCm39) missense probably benign 0.00
R6330:Or1af1 UTSW 2 37,110,136 (GRCm39) missense probably benign 0.00
R6338:Or1af1 UTSW 2 37,109,834 (GRCm39) missense probably damaging 1.00
R6666:Or1af1 UTSW 2 37,110,331 (GRCm39) missense probably damaging 1.00
R6872:Or1af1 UTSW 2 37,109,989 (GRCm39) missense possibly damaging 0.60
R7412:Or1af1 UTSW 2 37,109,774 (GRCm39) missense possibly damaging 0.48
R7789:Or1af1 UTSW 2 37,109,672 (GRCm39) missense probably benign 0.01
R7831:Or1af1 UTSW 2 37,109,723 (GRCm39) missense probably damaging 0.98
R8220:Or1af1 UTSW 2 37,109,791 (GRCm39) missense probably benign 0.06
R8391:Or1af1 UTSW 2 37,110,277 (GRCm39) missense probably damaging 1.00
R8708:Or1af1 UTSW 2 37,109,956 (GRCm39) missense probably damaging 1.00
R9049:Or1af1 UTSW 2 37,109,959 (GRCm39) missense probably damaging 0.98
R9231:Or1af1 UTSW 2 37,109,989 (GRCm39) missense possibly damaging 0.60
R9294:Or1af1 UTSW 2 37,110,122 (GRCm39) missense possibly damaging 0.63
R9471:Or1af1 UTSW 2 37,110,400 (GRCm39) missense probably damaging 1.00
R9595:Or1af1 UTSW 2 37,110,281 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAATGCTCCGGGAAAACCAG -3'
(R):5'- AGGCGACCCATGAGAATTGTGTG -3'

Sequencing Primer
(F):5'- GAGCCACATGACAGAATTCCTC -3'
(R):5'- TTGCAAATAGCAACATAGCGGTC -3'
Posted On 2014-01-15