Incidental Mutation 'R8731:Or5af1'
ID 662761
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 068579-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R8731 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58721982-58722908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58722268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 96 (A96V)
Ref Sequence ENSEMBL: ENSMUSP00000149697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078217] [ENSMUST00000216407]
AlphaFold Q7TRZ9
Predicted Effect probably benign
Transcript: ENSMUST00000078217
AA Change: A96V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: A96V

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 benign
Transcript: ENSMUST00000216407
AA Change: A96V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 95.9%
Validation Efficiency 100% (48/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,932,367 (GRCm39) D294V probably benign Het
Abcc8 T G 7: 45,803,986 (GRCm39) Y396S probably damaging Het
Ace T A 11: 105,861,426 (GRCm39) F192I possibly damaging Het
Apeh A G 9: 107,964,422 (GRCm39) S494P probably benign Het
Bod1 A G 11: 31,619,242 (GRCm39) probably null Het
Cap2 T C 13: 46,800,006 (GRCm39) M404T probably benign Het
Cc2d2a A T 5: 43,892,788 (GRCm39) D1450V probably damaging Het
Cdk5rap2 A T 4: 70,163,747 (GRCm39) probably benign Het
Clip1 A C 5: 123,752,756 (GRCm39) S342A Het
Cox10 A G 11: 63,855,045 (GRCm39) F412S probably damaging Het
Cracr2a T G 6: 127,602,890 (GRCm39) probably null Het
Dcaf7 T A 11: 105,945,548 (GRCm39) M299K possibly damaging Het
Dffb T C 4: 154,059,101 (GRCm39) T59A possibly damaging Het
Dgkd A G 1: 87,844,535 (GRCm39) M234V possibly damaging Het
Disp1 A T 1: 182,869,072 (GRCm39) V1116E possibly damaging Het
Dpysl3 C T 18: 43,571,157 (GRCm39) C39Y probably damaging Het
Dync1h1 T A 12: 110,607,018 (GRCm39) V2565D possibly damaging Het
Fam227b A T 2: 125,968,898 (GRCm39) Y59N possibly damaging Het
Gm21680 A T 5: 26,173,230 (GRCm39) V210D probably damaging Het
Gm57858 A T 3: 36,089,434 (GRCm39) N163K probably benign Het
Gnas T C 2: 174,126,699 (GRCm39) V78A probably benign Het
Gpr179 T C 11: 97,234,555 (GRCm39) T509A probably damaging Het
Igfn1 A G 1: 135,925,574 (GRCm39) M60T probably benign Het
Llgl2 A G 11: 115,742,016 (GRCm39) Q686R probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk3 T G 8: 86,085,634 (GRCm39) E300A probably benign Het
Myo1b A C 1: 51,799,570 (GRCm39) probably benign Het
Myo9b T C 8: 71,806,486 (GRCm39) probably null Het
Nalcn T C 14: 123,837,266 (GRCm39) I33V probably benign Het
Nsl1 A G 1: 190,814,609 (GRCm39) Y270C probably damaging Het
Otulin A G 15: 27,608,928 (GRCm39) M205T probably benign Het
Plch1 A T 3: 63,605,059 (GRCm39) V1615E probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn3a A T 2: 65,298,507 (GRCm39) Y1397* probably null Het
Scrib A T 15: 75,935,488 (GRCm39) H549Q probably benign Het
Slc36a4 A G 9: 15,631,048 (GRCm39) I56V possibly damaging Het
Spata7 T A 12: 98,624,541 (GRCm39) S148T probably damaging Het
Stk31 T A 6: 49,415,435 (GRCm39) L590Q probably benign Het
Tanc1 T C 2: 59,673,596 (GRCm39) V1567A probably benign Het
Tspan33 T C 6: 29,717,310 (GRCm39) F237S probably damaging Het
Uhrf1 T A 17: 56,629,363 (GRCm39) L737Q probably damaging Het
Vmn2r2 A G 3: 64,024,404 (GRCm39) F726L probably benign Het
Vmn2r65 A T 7: 84,589,447 (GRCm39) L823* probably null Het
Vps11 T C 9: 44,265,756 (GRCm39) N508D probably benign 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
R3437:Or5af1 UTSW 11 58,722,150 (GRCm39) missense probably damaging 1.00
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
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'- CTGAGATTGGTGCTCATCCC -3'
(R):5'- CTGAGTAGATAGCTCCACCCAC -3'

Sequencing Primer
(F):5'- TACACTTTCGGCATCCTGGGG -3'
(R):5'- TAGATAGCTCCACCCACCCAGG -3'
Posted On 2021-03-08