Incidental Mutation 'R5442:Olfr1033'
ID 427211
Institutional Source Beutler Lab
Gene Symbol Olfr1033
Ensembl Gene ENSMUSG00000045392
Gene Name olfactory receptor 1033
Synonyms GA_x6K02T2Q125-47516301-47517233, MOR199-2
MMRRC Submission 043007-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5442 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86020633-86045171 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86041951 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Ref Sequence ENSEMBL: ENSMUSP00000151539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111589] [ENSMUST00000213496] [ENSMUST00000213774] [ENSMUST00000213865] [ENSMUST00000214546] [ENSMUST00000215682] [ENSMUST00000218397]
AlphaFold Q8VFK5
Predicted Effect probably benign
Transcript: ENSMUST00000111589
AA Change: V212A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107216
Gene: ENSMUSG00000042796
AA Change: V212A

Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7tm_1 39 288 3.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213364
Predicted Effect probably benign
Transcript: ENSMUST00000213496
Predicted Effect probably benign
Transcript: ENSMUST00000213774
Predicted Effect probably benign
Transcript: ENSMUST00000213865
AA Change: V212A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214546
AA Change: V212A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215682
AA Change: V212A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000218397
AA Change: V212A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,018,768 M114T probably benign Het
Ablim3 A T 18: 61,857,225 probably null Het
Adcy10 A G 1: 165,513,140 D238G probably benign Het
Astn2 G T 4: 65,581,786 S955R possibly damaging Het
Casc3 A G 11: 98,821,471 E112G probably damaging Het
Cetn4 C T 3: 37,309,945 V39I probably benign Het
Commd4 A G 9: 57,156,806 V37A possibly damaging Het
Dyrk2 T C 10: 118,860,738 Q205R possibly damaging Het
Gal3st4 A G 5: 138,265,780 V319A possibly damaging Het
Gm14085 A G 2: 122,486,869 N36S probably benign Het
Inpp5d G A 1: 87,718,066 A1058T probably benign Het
Lpin3 A G 2: 160,905,016 Y781C probably damaging Het
Lrat C T 3: 82,903,220 V165M probably damaging Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Nlrp6 T C 7: 140,922,190 S142P probably benign Het
Oas1a T C 5: 120,897,206 T349A probably benign Het
Olfr110 A T 17: 37,499,439 I263F probably damaging Het
Olfr671 A T 7: 104,975,228 F252L possibly damaging Het
Olfr898 T A 9: 38,349,862 S260T probably benign Het
Pakap C A 4: 57,637,876 P18Q probably null Het
Pcdha2 T C 18: 36,939,862 V182A probably benign Het
Phactr3 A G 2: 178,142,461 D26G probably benign Het
Phrf1 G A 7: 141,240,937 R159H probably damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Rab3ip T C 10: 116,918,848 T268A probably benign Het
Rapgef3 T C 15: 97,758,861 D299G probably damaging Het
Rem1 A G 2: 152,628,057 probably null Het
Syne1 A G 10: 5,343,473 M1286T probably benign Het
Thsd7a T C 6: 12,748,800 T52A probably benign Het
Tmem135 A T 7: 89,144,664 F390Y probably damaging Het
Trio T C 15: 27,856,194 D696G probably benign Het
Ttll11 T C 2: 35,903,123 *191W probably null Het
Ubr4 A G 4: 139,407,772 D805G probably damaging Het
Usp9y A G Y: 1,336,467 I1469T possibly damaging Het
Vmn1r70 G T 7: 10,633,950 A122S possibly damaging Het
Vmn2r78 G T 7: 86,920,122 L74F possibly damaging Het
Wdfy3 T C 5: 101,896,559 E1860G probably benign Het
Other mutations in Olfr1033
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Olfr1033 APN 2 86042097 missense probably damaging 1.00
IGL01745:Olfr1033 APN 2 86042037 missense possibly damaging 0.74
IGL02317:Olfr1033 APN 2 86041569 missense probably damaging 0.99
IGL02400:Olfr1033 APN 2 86042076 missense probably benign 0.00
R0692:Olfr1033 UTSW 2 86042172 missense probably benign 0.00
R1629:Olfr1033 UTSW 2 86041422 missense probably damaging 0.99
R2105:Olfr1033 UTSW 2 86041330 missense probably damaging 0.97
R2288:Olfr1033 UTSW 2 86042033 nonsense probably null
R4451:Olfr1033 UTSW 2 86041959 missense probably damaging 1.00
R4512:Olfr1033 UTSW 2 86041569 missense probably damaging 0.99
R4878:Olfr1033 UTSW 2 86041455 missense probably benign 0.08
R5867:Olfr1033 UTSW 2 86041451 missense probably benign 0.01
R7849:Olfr1033 UTSW 2 86041605 missense probably benign 0.00
R7881:Olfr1033 UTSW 2 86041470 missense probably benign 0.03
Z1088:Olfr1033 UTSW 2 86041719 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-09-01