Incidental Mutation 'R7888:Or5au1'
ID 609176
Institutional Source Beutler Lab
Gene Symbol Or5au1
Ensembl Gene ENSMUSG00000044286
Gene Name olfactory receptor family 5 subfamily AU member 1
Synonyms MOR205-1, GA_x6K02T2RJGY-959918-960853, GA_x6K02SYYB8M-929-258, Olfr221, MOR205-2, Olfr1514
MMRRC Submission 045940-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R7888 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 52272631-52273566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52273347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 74 (S74P)
Ref Sequence ENSEMBL: ENSMUSP00000063109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052560] [ENSMUST00000214071] [ENSMUST00000214342] [ENSMUST00000216188] [ENSMUST00000216907]
AlphaFold B2RVX8
Predicted Effect probably damaging
Transcript: ENSMUST00000052560
AA Change: S74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063109
Gene: ENSMUSG00000044286
AA Change: S74P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-51 PFAM
Pfam:7tm_1 41 290 3.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214071
AA Change: S74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214342
AA Change: S74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216188
AA Change: S74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216907
AA Change: S74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2289 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
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
Acox2 G T 14: 8,246,415 (GRCm38) Q459K probably benign Het
Ano3 T A 2: 110,496,773 (GRCm39) Y792F probably damaging Het
Aoc3 C T 11: 101,223,323 (GRCm39) H520Y probably damaging Het
Atp4b A G 8: 13,439,811 (GRCm39) F137S probably damaging Het
Blvrb A G 7: 27,165,159 (GRCm39) T160A probably damaging Het
Brd2 G A 17: 34,335,995 (GRCm39) R73W probably damaging Het
Btaf1 A G 19: 36,943,036 (GRCm39) T306A probably benign Het
Ccdc154 G A 17: 25,383,578 (GRCm39) V212M possibly damaging Het
Ccdc40 A G 11: 119,119,967 (GRCm39) E3G unknown Het
Cenpb T A 2: 131,021,762 (GRCm39) E12V probably damaging Het
Cnot8 T C 11: 58,002,137 (GRCm39) S57P probably benign Het
Cryba4 T C 5: 112,398,918 (GRCm39) E42G probably benign Het
Fam72a T A 1: 131,456,578 (GRCm39) I47N probably damaging Het
Gm27027 A C 2: 93,787,880 (GRCm39) probably null Het
Itgb2 T C 10: 77,400,478 (GRCm39) V697A probably benign Het
Jakmip1 A G 5: 37,262,208 (GRCm39) N336D probably damaging Het
Kansl1 T C 11: 104,233,248 (GRCm39) T760A probably benign Het
Lrrc37a T A 11: 103,392,307 (GRCm39) E1039D probably benign Het
Meaf6 T G 4: 125,003,213 (GRCm39) probably null Het
Mpz T C 1: 170,987,204 (GRCm39) probably null Het
Mtss1 A T 15: 58,844,373 (GRCm39) M82K probably damaging Het
Myo6 T C 9: 80,203,947 (GRCm39) S1063P probably damaging Het
Niban2 T A 2: 32,812,137 (GRCm39) Y406* probably null Het
Nsun6 T A 2: 15,001,355 (GRCm39) E400D probably benign Het
Or10al5 A T 17: 38,062,888 (GRCm39) N48Y probably damaging Het
Or1e26 T C 11: 73,480,354 (GRCm39) D70G probably damaging Het
Or1l4b A T 2: 37,036,334 (GRCm39) M37L probably benign Het
Or2t26 T C 11: 49,039,266 (GRCm39) Y61H probably damaging Het
Or52ae7 T A 7: 103,120,006 (GRCm39) Y253* probably null Het
Or8j3b C A 2: 86,205,270 (GRCm39) C162F probably benign Het
Pfdn5 T A 15: 102,237,024 (GRCm39) V92E probably damaging Het
Pik3c2g T C 6: 139,842,470 (GRCm39) V801A Het
Psme2b T A 11: 48,836,402 (GRCm39) T182S possibly damaging Het
Ptcd3 G A 6: 71,860,431 (GRCm39) A592V probably damaging Het
Rabgap1 T A 2: 37,427,319 (GRCm39) Y633* probably null Het
Rnf39 A T 17: 37,258,133 (GRCm39) T222S probably damaging Het
Scnn1g A G 7: 121,342,878 (GRCm39) N277S probably damaging Het
Slc16a13 T G 11: 70,109,806 (GRCm39) I232L possibly damaging Het
Slco2b1 T G 7: 99,338,050 (GRCm39) R111S unknown Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Tmc3 T C 7: 83,249,217 (GRCm39) W269R probably damaging Het
Vmn2r4 T C 3: 64,313,943 (GRCm39) E346G probably damaging Het
Vps52 A G 17: 34,184,725 (GRCm39) N666S probably damaging Het
Wdfy4 C T 14: 32,812,920 (GRCm39) D1618N Het
Zfp773 C A 7: 7,135,978 (GRCm39) C206F probably benign Het
Other mutations in Or5au1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02559:Or5au1 APN 14 52,273,464 (GRCm39) missense probably damaging 1.00
G4846:Or5au1 UTSW 14 52,273,434 (GRCm39) missense probably benign 0.00
R0077:Or5au1 UTSW 14 52,273,442 (GRCm39) missense possibly damaging 0.94
R4762:Or5au1 UTSW 14 52,272,921 (GRCm39) missense possibly damaging 0.85
R5209:Or5au1 UTSW 14 52,273,410 (GRCm39) missense probably benign
R5257:Or5au1 UTSW 14 52,273,341 (GRCm39) missense possibly damaging 0.93
R6225:Or5au1 UTSW 14 52,272,825 (GRCm39) missense possibly damaging 0.55
R6492:Or5au1 UTSW 14 52,272,902 (GRCm39) missense probably benign 0.01
R7412:Or5au1 UTSW 14 52,273,310 (GRCm39) nonsense probably null
R7935:Or5au1 UTSW 14 52,272,645 (GRCm39) missense probably benign 0.12
R9651:Or5au1 UTSW 14 52,273,205 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAGAGGCACAGACATTG -3'
(R):5'- GTTTGAACTCTTGGGCCTCAC -3'

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