Incidental Mutation 'R6225:Or5au1'
ID 504288
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 044356-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R6225 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 52272631-52273566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 52272825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 248 (V248L)
Ref Sequence ENSEMBL: ENSMUSP00000151163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052560] [ENSMUST00000214071] [ENSMUST00000214342] [ENSMUST00000216188] [ENSMUST00000216907]
AlphaFold B2RVX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000052560
AA Change: V248L

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063109
Gene: ENSMUSG00000044286
AA Change: V248L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-51 PFAM
Pfam:7tm_1 41 290 3.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214071
AA Change: V248L

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214342
AA Change: V248L

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216188
AA Change: V248L

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216907
AA Change: V248L

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,870,445 (GRCm39) H288R possibly damaging Het
Adh1 T C 3: 137,995,565 (GRCm39) F323L probably benign Het
Adss1 A C 12: 112,600,837 (GRCm39) H226P probably damaging Het
Ahrr A G 13: 74,371,031 (GRCm39) S230P possibly damaging Het
Akap9 T C 5: 4,012,105 (GRCm39) V936A probably damaging Het
B4galnt2 A G 11: 95,759,268 (GRCm39) Y339H probably damaging Het
Bltp1 T C 3: 37,002,453 (GRCm39) V1466A probably damaging Het
C4b C A 17: 34,957,848 (GRCm39) G611V possibly damaging Het
Cacna1i A G 15: 80,205,427 (GRCm39) M128V probably damaging Het
Chia1 T C 3: 106,038,213 (GRCm39) S370P possibly damaging Het
Cops6 T C 5: 138,159,673 (GRCm39) V9A possibly damaging Het
D630003M21Rik A T 2: 158,059,321 (GRCm39) I193K probably benign Het
Daam2 T C 17: 49,801,467 (GRCm39) D90G probably damaging Het
Fads3 A G 19: 10,019,202 (GRCm39) D36G probably benign Het
Fam185a T C 5: 21,630,554 (GRCm39) V130A probably damaging Het
Fbn1 A T 2: 125,172,463 (GRCm39) N1928K probably damaging Het
Fstl3 A G 10: 79,615,843 (GRCm39) M110V probably benign Het
G2e3 A G 12: 51,415,919 (GRCm39) T552A possibly damaging Het
Gfra1 G A 19: 58,226,830 (GRCm39) T462I probably damaging Het
Glrx2 T A 1: 143,621,121 (GRCm39) probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Gm43302 T A 5: 105,425,605 (GRCm39) K275* probably null Het
Gm6569 A G 15: 73,711,640 (GRCm39) probably benign Het
Herc6 G T 6: 57,639,139 (GRCm39) V867L possibly damaging Het
Hhipl2 T A 1: 183,209,459 (GRCm39) probably null Het
Kcnj16 A T 11: 110,916,378 (GRCm39) K347* probably null Het
Kcnt2 T A 1: 140,354,661 (GRCm39) C305* probably null Het
Large2 A G 2: 92,196,825 (GRCm39) L477P probably damaging Het
Lnpep T C 17: 17,799,245 (GRCm39) T137A possibly damaging Het
Mettl3 T C 14: 52,534,215 (GRCm39) probably null Het
Mical3 C T 6: 120,935,684 (GRCm39) S1614N probably damaging Het
Mmut T A 17: 41,249,622 (GRCm39) V199E possibly damaging Het
Morc3 C A 16: 93,642,082 (GRCm39) Y100* probably null Het
Mrc2 A G 11: 105,237,646 (GRCm39) K1108R probably benign Het
Mrpl2 T C 17: 46,960,835 (GRCm39) V243A probably damaging Het
Mtor T A 4: 148,605,794 (GRCm39) N1505K probably benign Het
Myo1g A T 11: 6,469,168 (GRCm39) Y45N probably damaging Het
Nckap5l C A 15: 99,325,905 (GRCm39) L199F possibly damaging Het
Ndufc2 A G 7: 97,056,099 (GRCm39) T66A probably damaging Het
Nos1 T A 5: 118,050,917 (GRCm39) H779Q probably damaging Het
Or12e13 A G 2: 87,663,661 (GRCm39) T93A probably benign Het
Or13j1 T C 4: 43,705,698 (GRCm39) Y290C probably damaging Het
Or1e23 T C 11: 73,407,831 (GRCm39) N65D probably damaging Het
Or4c3 A G 2: 89,851,573 (GRCm39) probably null Het
Or51ah3 A T 7: 103,210,489 (GRCm39) R268S probably benign Het
Or5k16 T C 16: 58,736,545 (GRCm39) N153S probably benign Het
Otog C T 7: 45,898,458 (GRCm39) T192I possibly damaging Het
Oxct1 T C 15: 4,064,812 (GRCm39) V50A probably benign Het
P3h2 T A 16: 25,784,493 (GRCm39) D667V probably damaging Het
Pcdhb20 A G 18: 37,638,047 (GRCm39) Y191C probably damaging Het
Pds5b T G 5: 150,670,083 (GRCm39) V357G probably damaging Het
Pggt1b A G 18: 46,407,674 (GRCm39) V81A possibly damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pnpt1 T C 11: 29,095,469 (GRCm39) I406T probably benign Het
Ppat T C 5: 77,070,202 (GRCm39) I173V probably damaging Het
Proser3 T C 7: 30,243,153 (GRCm39) S167G probably damaging Het
Rnf135 A C 11: 80,080,053 (GRCm39) T115P possibly damaging Het
Rpl22 C T 4: 152,414,536 (GRCm39) R65C probably benign Het
Scel T C 14: 103,829,420 (GRCm39) F405L probably benign Het
Serinc3 A G 2: 163,469,799 (GRCm39) Y350H probably damaging Het
Slc25a16 C A 10: 62,764,102 (GRCm39) T53K probably damaging Het
Slco1a1 A T 6: 141,870,215 (GRCm39) F308I possibly damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smok3c T C 5: 138,063,314 (GRCm39) V267A probably benign Het
Ssrp1 A G 2: 84,873,158 (GRCm39) D473G probably benign Het
Svs6 A G 2: 164,159,405 (GRCm39) E56G possibly damaging Het
Tas2r130 TCATTTC T 6: 131,607,547 (GRCm39) probably benign Het
Thoc3 T C 13: 54,615,785 (GRCm39) N93S probably benign Het
Tle6 A G 10: 81,428,600 (GRCm39) C443R probably damaging Het
Tmed6 A G 8: 107,788,371 (GRCm39) F192S probably damaging Het
Tpx2 A G 2: 152,718,548 (GRCm39) N184D probably benign Het
Vmn2r31 T A 7: 7,397,638 (GRCm39) N207Y probably benign Het
Zfp267 T C 3: 36,220,352 (GRCm39) F792L probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp972 A T 2: 177,549,117 (GRCm39) probably null Het
Zzef1 G A 11: 72,760,631 (GRCm39) C1318Y possibly damaging 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
R6492:Or5au1 UTSW 14 52,272,902 (GRCm39) missense probably benign 0.01
R7412:Or5au1 UTSW 14 52,273,310 (GRCm39) nonsense probably null
R7888:Or5au1 UTSW 14 52,273,347 (GRCm39) missense probably damaging 1.00
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'- ATTGCTTTCCAGCCCCAAAC -3'
(R):5'- CATTTCTTCTGCGACGGACC -3'

Sequencing Primer
(F):5'- AACCCTCCTTAGAGCCTCC -3'
(R):5'- ACGGACCGCCCATTCTGTC -3'
Posted On 2018-02-28