Incidental Mutation 'R8202:Olfr1052'
ID635697
Institutional Source Beutler Lab
Gene Symbol Olfr1052
Ensembl Gene ENSMUSG00000047149
Gene Nameolfactory receptor 1052
SynonymsGA_x6K02T2Q125-47777498-47778436, MOR172-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R8202 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location86292455-86299233 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86298624 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 269 (E269D)
Ref Sequence ENSEMBL: ENSMUSP00000058454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054746]
Predicted Effect probably benign
Transcript: ENSMUST00000054746
AA Change: E269D

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: E269D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-51 PFAM
Pfam:7tm_1 41 290 6.9e-16 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 36,095,100 R36C probably benign Het
B020011L13Rik A T 1: 117,801,144 H127L probably damaging Het
B4galt4 A G 16: 38,767,912 Q306R probably benign Het
Bckdha G A 7: 25,630,313 H431Y probably damaging Het
Cacna1e T A 1: 154,398,449 M2256L probably benign Het
Ccar1 A T 10: 62,771,989 F298L possibly damaging Het
Ceacam3 G A 7: 17,163,028 A640T Het
Cers3 A G 7: 66,786,013 D240G probably damaging Het
Ces1d T C 8: 93,192,867 E99G probably benign Het
Dnah2 A G 11: 69,478,823 V1609A probably benign Het
Fer1l6 T C 15: 58,630,637 F1329S probably damaging Het
Fry A G 5: 150,431,737 Q1825R probably damaging Het
Guf1 C A 5: 69,563,202 A335E possibly damaging Het
Heatr6 C A 11: 83,759,408 T230K possibly damaging Het
Klhl11 G A 11: 100,463,324 S557L probably benign Het
Map10 A G 8: 125,670,908 N347D possibly damaging Het
Myh7 T C 14: 54,990,040 I313V probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Nmral1 G A 16: 4,714,584 T131M probably damaging Het
Npr1 T A 3: 90,461,424 Y443F probably benign Het
Ntn4 A G 10: 93,644,903 N163S possibly damaging Het
Nufip1 A G 14: 76,111,164 I78V probably benign Het
Olfr645 A G 7: 104,084,991 S30P probably benign Het
Olfr810 T C 10: 129,790,649 *313W probably null Het
Oplah C T 15: 76,302,469 G670D probably benign Het
Pcnx T G 12: 81,895,047 I73S probably benign Het
Pigp A T 16: 94,364,669 N204K probably benign Het
Prelid2 T A 18: 41,932,737 I78F possibly damaging Het
Ptprb A G 10: 116,353,845 Y1516C probably damaging Het
Rab31 T C 17: 65,667,886 E157G probably damaging Het
Rars2 T C 4: 34,656,180 Y445H probably damaging Het
Rnf220 T A 4: 117,489,873 H114L probably damaging Het
Ryr1 A G 7: 29,091,032 W1450R probably benign Het
Slamf6 A G 1: 171,934,219 Y69C probably benign Het
Smc3 T C 19: 53,628,692 I512T possibly damaging Het
Sspo A G 6: 48,457,600 T1009A probably damaging Het
St3gal3 T A 4: 118,107,671 probably benign Het
Tbc1d23 A G 16: 57,191,554 F338L probably damaging Het
Tgs1 G A 4: 3,586,097 A325T probably benign Het
Tmem30a A T 9: 79,774,212 I261K probably damaging Het
Trim3 A T 7: 105,611,425 H662Q possibly damaging Het
Unc13c C T 9: 73,736,562 V1207M probably damaging Het
Vmn1r91 A T 7: 20,101,824 I223F probably damaging Het
Vmn2r33 A T 7: 7,554,154 C516S possibly damaging Het
Vps13c T C 9: 67,944,046 V2321A probably damaging Het
Zan G T 5: 137,389,327 T4874K unknown Het
Zfp677 T C 17: 21,393,273 L43S probably damaging Het
Zfp709 A G 8: 71,888,916 probably null Het
Other mutations in Olfr1052
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02632:Olfr1052 APN 2 86298560 missense probably damaging 0.99
IGL02988:Olfr1052 UTSW 2 86298479 missense probably damaging 0.99
R0382:Olfr1052 UTSW 2 86298593 missense probably damaging 1.00
R0569:Olfr1052 UTSW 2 86298597 missense probably damaging 1.00
R1476:Olfr1052 UTSW 2 86298479 missense probably damaging 0.99
R1510:Olfr1052 UTSW 2 86298371 missense probably damaging 1.00
R1667:Olfr1052 UTSW 2 86298736 missense probably null 0.02
R2912:Olfr1052 UTSW 2 86298389 missense probably damaging 0.96
R2913:Olfr1052 UTSW 2 86298389 missense probably damaging 0.96
R3937:Olfr1052 UTSW 2 86298016 missense probably damaging 1.00
R4299:Olfr1052 UTSW 2 86298241 missense possibly damaging 0.46
R4774:Olfr1052 UTSW 2 86298698 missense possibly damaging 0.91
R5027:Olfr1052 UTSW 2 86298196 missense possibly damaging 0.84
R5080:Olfr1052 UTSW 2 86297914 missense probably benign 0.22
R5254:Olfr1052 UTSW 2 86297921 missense probably damaging 1.00
R5389:Olfr1052 UTSW 2 86298217 missense possibly damaging 0.90
R6110:Olfr1052 UTSW 2 86298675 missense probably damaging 0.99
R6492:Olfr1052 UTSW 2 86298646 missense probably benign 0.05
R6810:Olfr1052 UTSW 2 86297923 missense probably benign 0.01
R7095:Olfr1052 UTSW 2 86298677 missense probably benign 0.08
R7104:Olfr1052 UTSW 2 86298220 missense probably benign
R7320:Olfr1052 UTSW 2 86297994 frame shift probably null
R7328:Olfr1052 UTSW 2 86297994 frame shift probably null
R7363:Olfr1052 UTSW 2 86297994 frame shift probably null
R8048:Olfr1052 UTSW 2 86298328 missense probably benign 0.04
Z1176:Olfr1052 UTSW 2 86298226 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCCATGAATGAATTTCTGCTCTTG -3'
(R):5'- TCTGCATGAAAGCTGGCTG -3'

Sequencing Primer
(F):5'- GGAGTTATCGCCATTGGTACTCTC -3'
(R):5'- CTGCATGAAAGCTGGCTGATAAATAG -3'
Posted On2020-07-13