Incidental Mutation 'R4504:Olfr279'
ID331945
Institutional Source Beutler Lab
Gene Symbol Olfr279
Ensembl Gene ENSMUSG00000054036
Gene Nameolfactory receptor 279
SynonymsMOR122-1, Olfr234, GA_x6K02T2NBG7-5241885-5241019, GA_x6K02T04SN1-554-3
MMRRC Submission 041755-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R4504 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location98492402-98502637 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98498134 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 221 (F221L)
Ref Sequence ENSEMBL: ENSMUSP00000150851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050451] [ENSMUST00000205772] [ENSMUST00000216822]
Predicted Effect probably benign
Transcript: ENSMUST00000050451
AA Change: F221L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000061693
Gene: ENSMUSG00000054036
AA Change: F221L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-50 PFAM
Pfam:7tm_1 41 291 2.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205676
Predicted Effect probably benign
Transcript: ENSMUST00000205772
AA Change: F221L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216822
AA Change: F221L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (45/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A G 14: 44,170,442 S45P probably damaging Het
Adgrg4 C T X: 56,916,442 R1124C possibly damaging Het
Anxa13 T C 15: 58,356,203 noncoding transcript Het
Arhgap32 C A 9: 32,181,839 probably null Het
Carm1 T C 9: 21,569,526 F99L probably damaging Het
Dennd1b A G 1: 139,085,927 E253G possibly damaging Het
Dsg4 A G 18: 20,461,436 I541V probably benign Het
Dstyk A G 1: 132,434,389 T186A possibly damaging Het
Ear1 A T 14: 43,819,264 V49D probably benign Het
Epha10 A G 4: 124,915,687 probably benign Het
Fbxo18 A G 2: 11,749,017 V838A possibly damaging Het
Fndc8 T A 11: 82,892,400 M69K probably benign Het
Gm13023 G C 4: 143,793,983 E102Q probably benign Het
Golga1 T C 2: 39,023,454 I482V probably benign Het
Hivep3 G A 4: 119,733,793 probably benign Het
Igkv13-85 A G 6: 68,930,372 F82L probably damaging Het
Itih1 G A 14: 30,935,885 R410C probably damaging Het
Kcnc2 T C 10: 112,455,794 W296R probably damaging Het
Kcnq3 A T 15: 65,995,342 Y817* probably null Het
Kif3b T C 2: 153,323,644 probably null Het
Krtcap2 A G 3: 89,246,256 probably benign Het
Lhx5 C A 5: 120,440,008 H298N possibly damaging Het
Notch1 A G 2: 26,472,177 V1022A probably benign Het
Npc1l1 A G 11: 6,228,741 L223S possibly damaging Het
Olfr1258 C T 2: 89,930,351 P181S possibly damaging Het
Olfr160 C T 9: 37,711,464 V272I probably benign Het
Pbxip1 A G 3: 89,446,383 D281G possibly damaging Het
Pcdhga8 G C 18: 37,816,763 V411L probably damaging Het
Pcsk5 C T 19: 17,451,955 C1553Y probably damaging Het
Pdgfc A C 3: 81,174,991 M164L probably benign Het
Pdzd8 T C 19: 59,345,448 Y47C probably damaging Het
Pip5k1c T A 10: 81,315,111 I633N probably damaging Het
Pkn1 G A 8: 83,692,927 R16* probably null Het
Pole2 A G 12: 69,222,468 V85A probably benign Het
Ppp4c A C 7: 126,787,465 L150R probably damaging Het
Ric8a A G 7: 140,858,516 I223V probably benign Het
Rnf144a T A 12: 26,327,303 R92S probably benign Het
Sbno2 C A 10: 80,060,492 R898L possibly damaging Het
Scnn1b A C 7: 121,912,475 N370T probably damaging Het
Taar3 A G 10: 23,949,573 I6V possibly damaging Het
Vps13a T C 19: 16,695,502 E1302G possibly damaging Het
Other mutations in Olfr279
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Olfr279 APN 15 98498195 missense probably damaging 1.00
R0944:Olfr279 UTSW 15 98497684 missense probably benign 0.39
R1341:Olfr279 UTSW 15 98498254 missense possibly damaging 0.65
R1785:Olfr279 UTSW 15 98497835 missense probably damaging 1.00
R8099:Olfr279 UTSW 15 98497813 missense probably benign 0.00
Z1177:Olfr279 UTSW 15 98498278 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTACCCGGTCCTCATGAGC -3'
(R):5'- GAAGACAGAGAAGGCCTTCC -3'

Sequencing Primer
(F):5'- TCCTCATGAGCACCTGGTG -3'
(R):5'- AAGGCCTTCCGGAGCAAG -3'
Posted On2015-07-21