Incidental Mutation 'R4924:Olfr1080'
ID378842
Institutional Source Beutler Lab
Gene Symbol Olfr1080
Ensembl Gene ENSMUSG00000110912
Gene Nameolfactory receptor 1080
SynonymsMOR192-1, GA_x6K02T2Q125-48039418-48038477
MMRRC Submission 042526-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #R4924 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location86552675-86558235 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86553509 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 205 (F205Y)
Ref Sequence ENSEMBL: ENSMUSP00000150502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213185]
Predicted Effect probably damaging
Transcript: ENSMUST00000099881
AA Change: F205Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097466
Gene: ENSMUSG00000075178
AA Change: F205Y

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 1.5e-30 PFAM
Pfam:7tm_4 139 283 1.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213185
AA Change: F205Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,011,525 H625Y probably damaging Het
Adamts4 C T 1: 171,259,074 R812W probably damaging Het
Ajuba A C 14: 54,571,599 probably null Het
Aox2 T A 1: 58,305,344 V532D probably damaging Het
Arpc1b G A 5: 145,126,815 S295N probably benign Het
Baiap2 A G 11: 119,997,024 S335G probably damaging Het
BC051142 C T 17: 34,459,977 P221L probably damaging Het
Brap T G 5: 121,665,255 N155K probably damaging Het
Btn1a1 A G 13: 23,464,226 probably benign Het
Ccl12 G A 11: 82,102,649 V38I probably benign Het
Cemip T C 7: 83,952,938 Y881C probably damaging Het
Cep128 T C 12: 91,022,400 silent Het
Chd5 A C 4: 152,366,429 D670A possibly damaging Het
Cmip T C 8: 117,257,255 Y52H probably benign Het
Dmtn A G 14: 70,617,959 I30T probably benign Het
Dscaml1 T A 9: 45,745,189 M1609K probably damaging Het
Edar C A 10: 58,629,375 E55D probably damaging Het
Ehmt1 A T 2: 24,839,722 I601N probably damaging Het
Fam120a A T 13: 48,902,096 N705K probably benign Het
Gm21718 G T 14: 51,312,835 noncoding transcript Het
Gnaz A G 10: 74,991,713 D99G probably benign Het
Helz G A 11: 107,602,339 G196D probably damaging Het
Hif1a T C 12: 73,939,557 S341P probably damaging Het
Hivep1 G T 13: 42,158,316 S1344I probably benign Het
Hspa1l T A 17: 34,977,856 Y290* probably null Het
Ift81 A G 5: 122,594,616 L285S possibly damaging Het
Inpp4b T A 8: 82,122,624 N891K probably damaging Het
Irx6 C T 8: 92,678,353 T283M probably benign Het
Kdm5b A G 1: 134,631,351 K1538E probably benign Het
Kif13a A G 13: 46,929,599 V8A probably damaging Het
Krtap15 T A 16: 88,829,148 N34K probably damaging Het
Lama2 T G 10: 27,369,141 I215L probably damaging Het
Ldlrad3 C T 2: 102,069,983 R58H possibly damaging Het
Lvrn C T 18: 46,894,725 P869L probably damaging Het
Myo1d A G 11: 80,674,678 F411S probably damaging Het
Myo5b T A 18: 74,695,384 H702Q probably benign Het
Nat8f4 G T 6: 85,901,419 Q41K probably benign Het
Nckap5 C A 1: 126,027,028 E596* probably null Het
Nek10 T A 14: 14,846,594 probably null Het
Notch3 T C 17: 32,144,731 Y1145C probably damaging Het
Nr4a2 A T 2: 57,112,023 H76Q probably benign Het
Nup98 T C 7: 102,134,978 Q1049R probably damaging Het
Olfr1298 A T 2: 111,645,776 S74T possibly damaging Het
Olfr172 T A 16: 58,760,619 R186* probably null Het
Pepd T C 7: 35,020,984 Y231H probably benign Het
Plagl1 G T 10: 13,127,557 A190S possibly damaging Het
Plat T A 8: 22,778,253 I345N probably damaging Het
Pnmt A G 11: 98,387,460 E120G probably damaging Het
Prkrip1 C A 5: 136,198,943 probably null Het
Pygm G A 19: 6,393,724 A572T probably damaging Het
Rbm4b T C 19: 4,757,372 F39L probably damaging Het
Rpe65 A G 3: 159,622,631 H388R probably benign Het
Scn4a G T 11: 106,320,088 A1701E possibly damaging Het
Sdk2 C A 11: 113,857,758 W616L probably damaging Het
Serpina3m T A 12: 104,391,470 S218T probably benign Het
Siglece C T 7: 43,659,873 R87H probably damaging Het
Sim1 C A 10: 50,909,902 L284M probably damaging Het
Smok3c G T 5: 138,065,582 E444* probably null Het
Snx4 T C 16: 33,294,730 V427A probably benign Het
Srp68 A T 11: 116,260,858 V304E probably damaging Het
Stag1 A T 9: 100,796,755 H243L possibly damaging Het
Stx6 T C 1: 155,173,991 V14A probably damaging Het
Sv2b T A 7: 75,136,421 Y417F probably benign Het
Tas2r103 A G 6: 133,036,198 Y302H probably benign Het
Thop1 T C 10: 81,080,194 S404P probably benign Het
Trp53bp1 G T 2: 121,221,220 C988* probably null Het
Ube3c A G 5: 29,631,271 E630G possibly damaging Het
Usf3 T C 16: 44,217,355 S733P probably benign Het
Vmn1r195 A G 13: 22,279,019 T220A probably benign Het
Vmn1r201 A T 13: 22,474,712 H32L probably benign Het
Wnt2 A G 6: 18,023,240 C137R probably damaging Het
Ythdc2 T C 18: 44,847,804 S489P probably damaging Het
Zfp248 A G 6: 118,429,072 C418R probably damaging Het
Zfp946 T G 17: 22,455,521 F419V probably damaging Het
Zfp994 C T 17: 22,200,757 E404K probably damaging Het
Zfpm1 T C 8: 122,334,608 V304A possibly damaging Het
Other mutations in Olfr1080
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Olfr1080 APN 2 86553449 missense probably benign 0.34
IGL02169:Olfr1080 APN 2 86553882 missense probably benign 0.39
IGL02234:Olfr1080 APN 2 86553266 missense probably damaging 1.00
IGL02530:Olfr1080 APN 2 86553880 missense possibly damaging 0.60
R0046:Olfr1080 UTSW 2 86553632 missense probably damaging 1.00
R0360:Olfr1080 UTSW 2 86553779 missense probably damaging 1.00
R0364:Olfr1080 UTSW 2 86553779 missense probably damaging 1.00
R0377:Olfr1080 UTSW 2 86553583 missense probably damaging 1.00
R1496:Olfr1080 UTSW 2 86553752 missense probably damaging 1.00
R1609:Olfr1080 UTSW 2 86553605 missense probably damaging 1.00
R1674:Olfr1080 UTSW 2 86553860 missense probably damaging 0.96
R1816:Olfr1080 UTSW 2 86553667 nonsense probably null
R2870:Olfr1080 UTSW 2 86553584 missense possibly damaging 0.95
R2870:Olfr1080 UTSW 2 86553584 missense possibly damaging 0.95
R4387:Olfr1080 UTSW 2 86553954 missense probably damaging 1.00
R4915:Olfr1080 UTSW 2 86554055 missense probably damaging 1.00
R4987:Olfr1080 UTSW 2 86553235 unclassified probably null 0.10
R5774:Olfr1080 UTSW 2 86554007 missense possibly damaging 0.68
R6305:Olfr1080 UTSW 2 86553495 missense possibly damaging 0.91
R6829:Olfr1080 UTSW 2 86553269 nonsense probably null
R7152:Olfr1080 UTSW 2 86553329 missense probably benign 0.14
R7561:Olfr1080 UTSW 2 86553317 missense probably benign 0.45
Z1088:Olfr1080 UTSW 2 86553966 missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- TGAATGGCTAGATTCAGGTTGTAC -3'
(R):5'- CATCATGTCCCATAAAGTATGTTGGG -3'

Sequencing Primer
(F):5'- CTCAGCAGAGTTCATCCT -3'
(R):5'- CCCATAAAGTATGTTGGGTTCTAGTC -3'
Posted On2016-04-15