Incidental Mutation 'R6791:Or5af1'
ID 532602
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 044904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58721982-58722908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58722903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 308 (Y308H)
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: Y308H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: Y308H

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: Y308H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T 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
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'- GGAACTGGAAGCTTTGTGTATC -3'
(R):5'- TCCAGCAAACAGTTTTGTCAGC -3'

Sequencing Primer
(F):5'- AAGCTTTGTGTATCTGAGGCCC -3'
(R):5'- CACATAGTTCTGGGTGCCCATG -3'
Posted On 2018-08-29