Incidental Mutation 'R4135:Or5af1'
ID 314858
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 040995-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R4135 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58721982-58722908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58722820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 280 (T280K)
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: T280K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: T280K

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: T280K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,905,092 (GRCm39) probably benign Het
Bak1 T A 17: 27,240,244 (GRCm39) T148S possibly damaging Het
Cdc25a C A 9: 109,710,585 (GRCm39) H157Q possibly damaging Het
Chst5 T C 8: 112,616,816 (GRCm39) Y268C probably damaging Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Ctsr T C 13: 61,309,084 (GRCm39) T224A probably benign Het
Cux1 T C 5: 136,336,750 (GRCm39) K921E probably damaging Het
Dcaf12l1 T C X: 43,878,330 (GRCm39) N156S probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
Dock2 T C 11: 34,605,328 (GRCm39) K264E possibly damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Gm6987 T A X: 93,068,216 (GRCm39) noncoding transcript Het
Hbp1 A T 12: 31,984,421 (GRCm39) L262Q probably damaging Het
Hsd11b2 T C 8: 106,249,798 (GRCm39) V303A probably benign Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Mcc T C 18: 44,857,707 (GRCm39) D136G probably benign Het
Mrpl32 C T 13: 14,787,564 (GRCm39) V14M probably damaging Het
Msl1 A G 11: 98,687,126 (GRCm39) D157G possibly damaging Het
Mthfd1 G A 12: 76,329,648 (GRCm39) probably null Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Nlrp5 T C 7: 23,117,823 (GRCm39) W516R possibly damaging Het
Or2ag1 A G 7: 106,313,210 (GRCm39) L226P probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or2y3 A G 17: 38,393,248 (GRCm39) V207A possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Pate5 A G 9: 35,750,724 (GRCm39) S33P possibly damaging Het
Pold3 T A 7: 99,749,854 (GRCm39) R104* probably null Het
Rapsn A T 2: 90,867,162 (GRCm39) N155Y probably damaging Het
Rorc C A 3: 94,296,826 (GRCm39) Q269K probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 (GRCm39) D1223N possibly damaging Het
Sema6d T C 2: 124,506,040 (GRCm39) I616T probably damaging Het
Ttc6 T A 12: 57,679,581 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,338,810 (GRCm39) Y58F probably damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Washc3 G A 10: 88,055,142 (GRCm39) E111K probably benign Het
Xirp2 A G 2: 67,355,741 (GRCm39) S3501G probably benign Het
Zfp1004 A T 2: 150,023,788 (GRCm39) probably benign Het
Zfp352 C T 4: 90,113,261 (GRCm39) T467M probably damaging Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably 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
R3437:Or5af1 UTSW 11 58,722,150 (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'- CCTCACAGTGGTCTCCTATATTGG -3'
(R):5'- TGAGCAATGTCAAGGGTCCC -3'

Sequencing Primer
(F):5'- GCATTGTGGCCACAGTTC -3'
(R):5'- TGTCAAGGGTCCCAGGAG -3'
Posted On 2015-05-14