Incidental Mutation 'R0667:Olfr1239'
ID218541
Institutional Source Beutler Lab
Gene Symbol Olfr1239
Ensembl Gene ENSMUSG00000075088
Gene Nameolfactory receptor 1239
SynonymsGA_x6K02T2Q125-50861284-50860367, MOR231-3
MMRRC Submission 038852-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R0667 (G1)
Quality Score62
Status Validated
Chromosome2
Chromosomal Location89417030-89420407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89417688 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 242 (I242V)
Ref Sequence ENSEMBL: ENSMUSP00000149898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]
Predicted Effect probably benign
Transcript: ENSMUST00000099780
AA Change: I242V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: I242V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 3.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216762
AA Change: I242V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217181
AA Change: I242V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.1196 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik C G 7: 140,261,537 S251R possibly damaging Het
Abca5 G T 11: 110,327,811 N76K probably benign Het
Adamts12 C T 15: 11,215,624 R244C probably damaging Het
Atad2 A G 15: 58,098,719 S1143P probably benign Het
Avl9 G T 6: 56,736,483 R242L probably benign Het
Cand1 A G 10: 119,216,520 S234P probably benign Het
Cd200 T A 16: 45,394,857 I144L probably benign Het
Cep76 A T 18: 67,634,778 L228Q possibly damaging Het
Col12a1 A G 9: 79,628,462 L2584S probably damaging Het
Col6a3 A C 1: 90,828,101 D155E probably damaging Het
Col6a4 G A 9: 106,029,959 probably benign Het
Dsg2 A C 18: 20,573,499 D24A possibly damaging Het
Gm5901 G A 7: 105,377,490 S155N possibly damaging Het
Hkdc1 T C 10: 62,411,865 probably benign Het
Kansl1 A G 11: 104,343,538 V714A probably benign Het
Kcnh1 T A 1: 192,506,038 S936T probably benign Het
Klhdc3 A T 17: 46,677,225 F205I probably benign Het
Krt31 T A 11: 100,048,125 H290L probably benign Het
Lama2 T A 10: 27,344,410 probably null Het
Mep1a T G 17: 43,478,190 D565A probably benign Het
Mgme1 T A 2: 144,278,987 probably benign Het
Mtf2 C T 5: 108,104,503 T409I probably damaging Het
Mylk3 A G 8: 85,355,165 probably null Het
Myo1c A G 11: 75,668,512 E650G probably damaging Het
Nipbl A C 15: 8,361,004 D260E possibly damaging Het
Nufip2 T A 11: 77,692,013 V251D possibly damaging Het
Olfr138 C A 17: 38,275,157 P129T probably damaging Het
Olfr855 T A 9: 19,585,447 N303K probably benign Het
Osm G T 11: 4,239,918 R234L possibly damaging Het
Pabpc1 G A 15: 36,598,031 A515V probably benign Het
Piwil1 T A 5: 128,741,478 probably null Het
Pld1 A G 3: 28,079,178 probably null Het
Plekhg3 C T 12: 76,576,598 R871C probably damaging Het
Ppfia2 A T 10: 106,913,694 Y1147F probably damaging Het
Prmt3 A G 7: 49,791,995 Y240C probably damaging Het
Prr36 G T 8: 4,216,311 probably benign Het
Ptprd A G 4: 75,957,346 I908T probably damaging Het
Sae1 A T 7: 16,368,532 N172K probably damaging Het
Satb1 T G 17: 51,782,861 Q319H probably damaging Het
Scn2a A T 2: 65,751,996 I1563F possibly damaging Het
Scn3a C A 2: 65,484,411 R1102L probably null Het
Serpinb9b T A 13: 33,032,926 L60* probably null Het
Setd1a A G 7: 127,786,593 D281G probably damaging Het
Slc8a1 C A 17: 81,648,881 V243F probably damaging Het
Tgfbr3 A T 5: 107,177,850 H115Q probably benign Het
Tiam1 C A 16: 89,897,984 S195I probably damaging Het
Tjp2 A G 19: 24,108,749 V803A probably benign Het
Ttc5 T A 14: 50,765,958 Q423L probably benign Het
Tyk2 A C 9: 21,108,871 V997G probably damaging Het
Uhrf1 T C 17: 56,310,677 V133A probably benign Het
Vmn2r107 A C 17: 20,355,654 Y82S possibly damaging Het
Vmn2r93 T C 17: 18,326,241 F792L probably damaging Het
Vps13c G A 9: 67,951,573 W2768* probably null Het
Zfp456 A T 13: 67,366,742 C282S probably benign Het
Zhx1 T C 15: 58,053,165 N562D possibly damaging Het
Zmynd15 G T 11: 70,465,118 G481C probably damaging Het
Other mutations in Olfr1239
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Olfr1239 APN 2 89417844 missense probably damaging 0.99
PIT4810001:Olfr1239 UTSW 2 89417953 missense probably damaging 1.00
R0271:Olfr1239 UTSW 2 89418158 missense probably benign 0.00
R0521:Olfr1239 UTSW 2 89418200 missense probably damaging 1.00
R1738:Olfr1239 UTSW 2 89418018 missense probably benign 0.02
R1955:Olfr1239 UTSW 2 89418411 start codon destroyed probably damaging 1.00
R3114:Olfr1239 UTSW 2 89418413 unclassified probably null
R4110:Olfr1239 UTSW 2 89418100 missense probably benign 0.01
R4111:Olfr1239 UTSW 2 89418100 missense probably benign 0.01
R4796:Olfr1239 UTSW 2 89417891 missense probably damaging 0.99
R4951:Olfr1239 UTSW 2 89417772 missense probably benign 0.01
R5751:Olfr1239 UTSW 2 89417687 missense probably damaging 1.00
R6331:Olfr1239 UTSW 2 89418351 missense probably benign 0.04
R7249:Olfr1239 UTSW 2 89417873 missense probably damaging 1.00
R7352:Olfr1239 UTSW 2 89417967 missense probably damaging 1.00
R7476:Olfr1239 UTSW 2 89417499 missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- AGAGTGACTCCCTTTCTTAGTGCCC -3'
(R):5'- ATTGGCCTGCACAGACACCTATG -3'

Sequencing Primer
(F):5'- AGTGCCCATCATTTTATGGTTG -3'
(R):5'- GCACAGACACCTATGTTATTGGC -3'
Posted On2014-08-18