Incidental Mutation 'R2234:Olfr1346'
ID239919
Institutional Source Beutler Lab
Gene Symbol Olfr1346
Ensembl Gene ENSMUSG00000054938
Gene Nameolfactory receptor 1346
SynonymsMOR103-6, GA_x6K02T2QGBW-3203957-3204898
MMRRC Submission 040235-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R2234 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location6467101-6478112 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6474442 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 111 (S111P)
Ref Sequence ENSEMBL: ENSMUSP00000150503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056144] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056144
AA Change: S111P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050553
Gene: ENSMUSG00000054938
AA Change: S111P

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 7.2e-44 PFAM
Pfam:7tm_1 45 295 5.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207658
AA Change: S111P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000209866
Predicted Effect possibly damaging
Transcript: ENSMUST00000215302
AA Change: S111P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,558,708 D24G probably damaging Het
Adarb1 A G 10: 77,317,349 V322A probably damaging Het
Akap8l C T 17: 32,338,803 G37R probably damaging Het
BC035947 A T 1: 78,497,962 D644E probably damaging Het
Capzb T A 4: 139,262,023 D85E possibly damaging Het
Ccdc129 A T 6: 55,897,812 H249L possibly damaging Het
Cd81 T A 7: 143,066,319 N71K probably benign Het
Cemip G T 7: 83,998,562 D103E probably benign Het
Chfr A G 5: 110,170,863 K580E probably damaging Het
Chrnb1 A T 11: 69,795,602 I64N probably damaging Het
Clca1 G T 3: 145,009,068 P596Q possibly damaging Het
Cpb1 A T 3: 20,275,465 D32E probably benign Het
Crh A T 3: 19,693,932 M182K probably damaging Het
Csta1 C T 16: 36,125,075 V23I probably damaging Het
Dazap1 A G 10: 80,277,599 K110E possibly damaging Het
Dhx16 T C 17: 35,887,886 C737R probably damaging Het
Dync1i2 C T 2: 71,249,420 Q419* probably null Het
Eml5 A C 12: 98,841,581 D984E probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Gm12695 C T 4: 96,724,029 R499Q probably damaging Het
Hid1 A G 11: 115,351,119 I555T probably damaging Het
Hspa2 A G 12: 76,404,645 T38A possibly damaging Het
Igf1r T A 7: 68,212,080 N1129K probably damaging Het
Iglon5 T C 7: 43,480,638 E34G probably damaging Het
Kalrn C A 16: 34,176,262 probably null Het
Kmt2d T C 15: 98,865,248 D240G probably damaging Het
Lrrc56 T A 7: 141,198,294 D66E probably damaging Het
Myot A G 18: 44,354,272 D392G probably damaging Het
Nphp3 G A 9: 104,037,376 R1052H probably benign Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1089 A G 2: 86,733,577 F12L possibly damaging Het
Olfr1219 A G 2: 89,074,248 L281P probably damaging Het
Olfr710 C A 7: 106,944,620 C127F probably damaging Het
Olfr832 A T 9: 18,944,816 H56L probably damaging Het
Pax8 A G 2: 24,443,102 I77T probably damaging Het
Paxbp1 T C 16: 91,034,934 I355M probably benign Het
Pds5a A T 5: 65,654,098 F331I probably damaging Het
Plec A T 15: 76,176,947 I2952N probably damaging Het
Ppp1r12a A G 10: 108,198,919 I108M possibly damaging Het
Rabepk A T 2: 34,795,234 I58N possibly damaging Het
Rnf216 G A 5: 143,090,926 H68Y probably benign Het
Scap T C 9: 110,381,593 C998R probably damaging Het
Scgb1b27 T C 7: 34,021,824 Y46H probably damaging Het
Sf3a2 G T 10: 80,802,829 A95S probably benign Het
Smg7 A T 1: 152,868,313 Y40N probably damaging Het
Ssc5d A G 7: 4,943,850 T1068A probably benign Het
Stambp A G 6: 83,551,978 S362P probably damaging Het
Tbx18 G T 9: 87,724,350 S247R probably damaging Het
Tenm3 T C 8: 48,276,169 I1601V probably benign Het
Thap4 G T 1: 93,725,212 Q441K probably benign Het
Tmprss11c G T 5: 86,282,086 T40K probably benign Het
Tnk1 C T 11: 69,855,191 probably null Het
Trim65 G T 11: 116,130,677 T110K possibly damaging Het
Uck1 T C 2: 32,258,303 D167G probably damaging Het
Vmn2r124 A T 17: 18,049,665 H61L possibly damaging Het
Xpnpep1 T G 19: 53,013,461 D118A probably damaging Het
Xylt2 C T 11: 94,669,996 V239M possibly damaging Het
Other mutations in Olfr1346
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0057:Olfr1346 UTSW 7 6474680 missense probably damaging 1.00
R0446:Olfr1346 UTSW 7 6475025 missense probably benign 0.00
R0531:Olfr1346 UTSW 7 6474235 missense possibly damaging 0.81
R0622:Olfr1346 UTSW 7 6474599 missense possibly damaging 0.46
R1596:Olfr1346 UTSW 7 6474515 missense probably damaging 1.00
R2233:Olfr1346 UTSW 7 6474442 missense possibly damaging 0.94
R2235:Olfr1346 UTSW 7 6474442 missense possibly damaging 0.94
R4441:Olfr1346 UTSW 7 6474925 missense probably benign 0.01
R4888:Olfr1346 UTSW 7 6474613 missense probably damaging 0.97
R4890:Olfr1346 UTSW 7 6474849 nonsense probably null
R5696:Olfr1346 UTSW 7 6474743 splice site probably null
R6173:Olfr1346 UTSW 7 6474836 missense probably damaging 1.00
R6643:Olfr1346 UTSW 7 6474721 missense probably benign 0.11
R7404:Olfr1346 UTSW 7 6474164 missense probably damaging 1.00
R8120:Olfr1346 UTSW 7 6474120 missense probably benign 0.02
Z1177:Olfr1346 UTSW 7 6474390 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AAGACATCAAGGACGGCCTG -3'
(R):5'- GTGGTCTTGATCGCAGAAAC -3'

Sequencing Primer
(F):5'- CCTGCTGATCTTCCTAGAGAATATG -3'
(R):5'- GGTCTTGATCGCAGAAACCAACAG -3'
Posted On2014-10-15