Incidental Mutation 'R7900:Or5an1'
ID 609966
Institutional Source Beutler Lab
Gene Symbol Or5an1
Ensembl Gene ENSMUSG00000095640
Gene Name olfactory receptor family 5 subfamily AN member 1
Synonyms GA_x6K02T2RE5P-2610001-2610414, Olfr1433, MOR214-4, GA_x6K02T2RE5P-2618516-2619454, Olfr1434, MOR214-4
MMRRC Submission 045952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R7900 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12257218-12261352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12260705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 98 (C98S)
Ref Sequence ENSEMBL: ENSMUSP00000146925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]
AlphaFold Q7TQR9
Predicted Effect probably damaging
Transcript: ENSMUST00000207186
AA Change: C98S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207915
AA Change: C98S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208197
AA Change: C98S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5787 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamtsl5 A G 10: 80,177,735 (GRCm39) F309S probably damaging Het
Ankle1 C T 8: 71,860,061 (GRCm39) T213I probably damaging Het
C4b A G 17: 34,958,751 (GRCm39) S528P probably benign Het
Camk2a A G 18: 61,090,438 (GRCm39) Y222C probably damaging Het
Cnst A G 1: 179,450,453 (GRCm39) D639G probably damaging Het
Ctbp2 A C 7: 132,616,328 (GRCm39) S202R probably benign Het
Cwf19l2 G T 9: 3,460,107 (GRCm39) L798F probably damaging Het
Cyp11a1 T A 9: 57,923,667 (GRCm39) V124E possibly damaging Het
Ddx3y C T Y: 1,266,594 (GRCm39) probably null Het
Dlst G T 12: 85,177,292 (GRCm39) R346L probably benign Het
Dnah2 A G 11: 69,409,254 (GRCm39) S375P probably damaging Het
Dnm3 T A 1: 162,182,940 (GRCm39) Y125F probably benign Het
Dock9 C T 14: 121,783,491 (GRCm39) A2011T possibly damaging Het
Efr3a T A 15: 65,719,984 (GRCm39) probably null Het
Egln1 A T 8: 125,640,879 (GRCm39) I319N possibly damaging Het
Gata3 T A 2: 9,863,461 (GRCm39) N351I probably damaging Het
Gjd3 T C 11: 102,690,920 (GRCm39) N361S probably benign Het
Gpcpd1 T C 2: 132,376,659 (GRCm39) T546A probably damaging Het
Gpihbp1 T C 15: 75,469,791 (GRCm39) F169L probably benign Het
Gpnmb A T 6: 49,027,400 (GRCm39) I375L possibly damaging Het
Itpka A T 2: 119,580,994 (GRCm39) T381S probably benign Het
Lhx4 T C 1: 155,617,709 (GRCm39) probably benign Het
Lrguk T C 6: 34,106,129 (GRCm39) L718P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nr1d1 T A 11: 98,660,537 (GRCm39) T477S probably benign Het
Nxnl1 A T 8: 72,019,170 (GRCm39) D18E probably damaging Het
Onecut2 G T 18: 64,474,658 (GRCm39) R403L probably damaging Het
Or51v14 T C 7: 103,260,900 (GRCm39) Y220C possibly damaging Het
Pla2r1 T C 2: 60,258,858 (GRCm39) T1177A possibly damaging Het
Prkd2 T C 7: 16,587,269 (GRCm39) V405A probably benign Het
Ranbp1 T C 16: 18,063,161 (GRCm39) T72A probably damaging Het
Retnla A C 16: 48,663,977 (GRCm39) R90S probably benign Het
Sec31b A T 19: 44,514,669 (GRCm39) I385N probably damaging Het
Slc6a19 C T 13: 73,848,583 (GRCm39) R57H probably damaging Het
Smurf1 T C 5: 144,836,183 (GRCm39) D110G probably damaging Het
Specc1 A G 11: 62,110,187 (GRCm39) Y975C probably damaging Het
Tas2r136 T A 6: 132,754,599 (GRCm39) N176I possibly damaging Het
Tecrl A C 5: 83,427,188 (GRCm39) V320G probably benign Het
Tmem245 A G 4: 56,924,973 (GRCm39) probably null Het
Tpd52l1 T A 10: 31,214,178 (GRCm39) probably null Het
Trbv2 A G 6: 41,024,908 (GRCm39) Y108C probably damaging Het
Trpm7 T C 2: 126,639,418 (GRCm39) M1689V probably benign Het
Usp24 A G 4: 106,266,597 (GRCm39) Y1855C probably damaging Het
Usp9y A T Y: 1,384,354 (GRCm39) S721R possibly damaging Het
Vwf G A 6: 125,605,439 (GRCm39) probably null Het
Washc4 T A 10: 83,409,637 (GRCm39) probably null Het
Yeats4 G A 10: 117,056,464 (GRCm39) H71Y possibly damaging Het
Zbtb38 A C 9: 96,570,989 (GRCm39) L32V probably damaging Het
Zfy1 T C Y: 725,519 (GRCm39) T749A possibly damaging Het
Other mutations in Or5an1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Or5an1 APN 19 12,261,069 (GRCm39) missense probably damaging 1.00
IGL02415:Or5an1 APN 19 12,260,862 (GRCm39) missense probably benign 0.44
IGL02731:Or5an1 APN 19 12,261,206 (GRCm39) missense probably damaging 0.99
IGL02803:Or5an1 APN 19 12,261,347 (GRCm39) missense possibly damaging 0.94
IGL03050:Or5an1 UTSW 19 12,260,876 (GRCm39) missense probably benign
R0432:Or5an1 UTSW 19 12,261,267 (GRCm39) missense probably damaging 1.00
R2209:Or5an1 UTSW 19 12,261,224 (GRCm39) missense probably benign 0.41
R3710:Or5an1 UTSW 19 12,260,450 (GRCm39) missense probably damaging 1.00
R4724:Or5an1 UTSW 19 12,260,460 (GRCm39) missense probably damaging 1.00
R5133:Or5an1 UTSW 19 12,260,670 (GRCm39) missense possibly damaging 0.96
R5974:Or5an1 UTSW 19 12,261,200 (GRCm39) missense probably damaging 1.00
R6544:Or5an1 UTSW 19 12,260,519 (GRCm39) missense probably damaging 1.00
R7225:Or5an1 UTSW 19 12,260,831 (GRCm39) missense probably benign 0.00
R7320:Or5an1 UTSW 19 12,261,180 (GRCm39) missense possibly damaging 0.72
R7467:Or5an1 UTSW 19 12,260,839 (GRCm39) nonsense probably null
R8719:Or5an1 UTSW 19 12,260,792 (GRCm39) missense probably benign 0.13
R9135:Or5an1 UTSW 19 12,260,808 (GRCm39) missense probably damaging 1.00
R9324:Or5an1 UTSW 19 12,260,939 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TTACAGCACTGACCTGGAACC -3'
(R):5'- TGATGACATTAGATCCACAGAAGTG -3'

Sequencing Primer
(F):5'- ACCTGTCCCTTGTTGTTTTAATAAG -3'
(R):5'- AAAGAACTTACAAGTCCTGCTGTG -3'
Posted On 2019-12-20