Incidental Mutation 'R3437:Or5af1'
ID 267246
Institutional Source Beutler Lab
Gene Symbol Or5af1
Ensembl Gene ENSMUSG00000096806
Gene Name olfactory receptor family 5 subfamily AF member 1
Synonyms Olfr312, GA_x6K02T2NKPP-575829-574903, MOR222-4P
MMRRC Submission 040655-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R3437 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58721982-58722908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58722150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 57 (M57L)
Ref Sequence ENSEMBL: ENSMUSP00000149697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078217] [ENSMUST00000216407]
AlphaFold Q7TRZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000078217
AA Change: M57L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: M57L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.5e-53 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.9e-8 PFAM
Pfam:7tm_1 39 288 4.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216407
AA Change: M57L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1245 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,616,253 (GRCm39) L127R probably null Het
Ambp T C 4: 63,067,721 (GRCm39) E163G probably benign Het
Amy1 G A 3: 113,349,658 (GRCm39) A504V probably damaging Het
Angptl3 A T 4: 98,921,540 (GRCm39) K219N probably benign Het
Atp6v1g1 A G 4: 63,468,255 (GRCm39) N86S probably benign Het
Avl9 T C 6: 56,713,612 (GRCm39) V290A probably benign Het
Bad A G 19: 6,919,799 (GRCm39) R37G probably benign Het
Bicra T C 7: 15,723,223 (GRCm39) D98G possibly damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Col4a4 G A 1: 82,474,889 (GRCm39) T650M unknown Het
Cyp11b2 T C 15: 74,727,298 (GRCm39) R128G probably benign Het
Dst T C 1: 34,229,303 (GRCm39) S1974P probably damaging Het
Fabp1 T C 6: 71,178,595 (GRCm39) L24P probably benign Het
Flnb T C 14: 7,942,057 (GRCm38) V2345A probably damaging Het
Gmnc G T 16: 26,779,217 (GRCm39) H221Q probably benign Het
Homer1 T C 13: 93,502,929 (GRCm39) probably benign Het
Kit A G 5: 75,806,565 (GRCm39) D690G probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mc3r C T 2: 172,091,588 (GRCm39) T270I probably benign Het
Mrgpra3 A C 7: 47,239,314 (GRCm39) L204W probably damaging Het
Mroh1 C T 15: 76,317,808 (GRCm39) T839I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or2n1d A G 17: 38,646,323 (GRCm39) I92V probably damaging Het
P4ha3 C T 7: 99,934,831 (GRCm39) A31V possibly damaging Het
Plch2 A G 4: 155,075,470 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,647 (GRCm39) probably null Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Pter T A 2: 13,005,805 (GRCm39) L326H probably benign Het
Pwwp2a C T 11: 43,597,015 (GRCm39) Q452* probably null Het
Slc8a2 T G 7: 15,892,810 (GRCm39) V824G probably damaging Het
Slfn2 A T 11: 82,960,390 (GRCm39) H123L probably benign Het
Tmem132e A G 11: 82,335,156 (GRCm39) Y654C probably damaging Het
Trim14 C T 4: 46,523,739 (GRCm39) V100I possibly damaging Het
Tro G A X: 149,429,252 (GRCm39) probably benign Het
Uspl1 T A 5: 149,151,507 (GRCm39) probably benign Het
Uty A G Y: 1,158,336 (GRCm39) I522T probably benign Het
Vmn1r120 A C 7: 20,787,582 (GRCm39) L43W probably damaging Het
Vmn2r16 A T 5: 109,478,362 (GRCm39) D39V probably damaging Het
Washc4 T A 10: 83,405,866 (GRCm39) I454N probably benign Het
Wnt16 T C 6: 22,298,133 (GRCm39) V333A probably damaging Het
Ylpm1 T C 12: 85,096,644 (GRCm39) probably null Het
Zfy1 A T Y: 726,357 (GRCm39) D469E possibly damaging Het
Other mutations in Or5af1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Or5af1 APN 11 58,722,465 (GRCm39) missense probably damaging 1.00
R0442:Or5af1 UTSW 11 58,722,257 (GRCm39) nonsense probably null
R0540:Or5af1 UTSW 11 58,722,798 (GRCm39) missense probably damaging 0.96
R0607:Or5af1 UTSW 11 58,722,798 (GRCm39) missense probably damaging 0.96
R2366:Or5af1 UTSW 11 58,722,039 (GRCm39) missense probably benign 0.00
R4135:Or5af1 UTSW 11 58,722,820 (GRCm39) missense probably damaging 1.00
R4391:Or5af1 UTSW 11 58,722,841 (GRCm39) missense possibly damaging 0.81
R5557:Or5af1 UTSW 11 58,722,813 (GRCm39) missense probably benign 0.01
R5564:Or5af1 UTSW 11 58,722,039 (GRCm39) nonsense probably null
R5854:Or5af1 UTSW 11 58,722,382 (GRCm39) missense probably damaging 0.99
R6791:Or5af1 UTSW 11 58,722,903 (GRCm39) missense probably benign
R7336:Or5af1 UTSW 11 58,722,750 (GRCm39) missense probably damaging 0.99
R7344:Or5af1 UTSW 11 58,722,308 (GRCm39) missense probably damaging 1.00
R7397:Or5af1 UTSW 11 58,722,115 (GRCm39) missense probably benign 0.05
R8471:Or5af1 UTSW 11 58,722,597 (GRCm39) missense probably benign 0.10
R8731:Or5af1 UTSW 11 58,722,268 (GRCm39) missense probably benign 0.00
R9009:Or5af1 UTSW 11 58,722,280 (GRCm39) missense probably benign 0.02
R9237:Or5af1 UTSW 11 58,722,057 (GRCm39) missense possibly damaging 0.75
R9492:Or5af1 UTSW 11 58,722,610 (GRCm39) missense probably benign
R9760:Or5af1 UTSW 11 58,722,852 (GRCm39) missense probably damaging 0.99
X0067:Or5af1 UTSW 11 58,722,814 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAGCAGACATGTCCAATCAC -3'
(R):5'- ATGGTTCCATAGATCAGTGGTCTG -3'

Sequencing Primer
(F):5'- GCAGACATGTCCAATCACACAAGAG -3'
(R):5'- TCATAAGCCATGGCCGTGAG -3'
Posted On 2015-02-18