Incidental Mutation 'R3942:Olfr1214'
ID312893
Institutional Source Beutler Lab
Gene Symbol Olfr1214
Ensembl Gene ENSMUSG00000075110
Gene Nameolfactory receptor 1214
SynonymsGA_x6K02T2Q125-50468705-50467770, MOR233-8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R3942 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location88986479-88992653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88988111 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 30 (L30F)
Ref Sequence ENSEMBL: ENSMUSP00000150322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099804] [ENSMUST00000216026] [ENSMUST00000217469]
Predicted Effect probably benign
Transcript: ENSMUST00000099804
AA Change: L30F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: L30F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-45 PFAM
Pfam:7tm_1 39 286 4.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216026
AA Change: L30F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217469
AA Change: L30F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,182,789 N6049S probably damaging Het
Aph1a C T 3: 95,894,261 R31W probably damaging Het
Atp10b T C 11: 43,172,754 V172A probably damaging Het
Atp13a2 T C 4: 141,006,422 S1041P probably damaging Het
Best3 T A 10: 116,988,674 F15Y possibly damaging Het
Brinp3 C A 1: 146,751,861 D277E probably damaging Het
Crb1 A C 1: 139,337,473 L69R possibly damaging Het
Crcp T C 5: 130,034,950 probably null Het
Dysf G A 6: 84,186,509 probably null Het
Gm5724 A G 6: 141,727,714 I366T probably damaging Het
Hps3 T C 3: 19,996,939 Y859C probably damaging Het
Irx5 C A 8: 92,359,686 N132K probably damaging Het
Itgb2 A G 10: 77,558,033 T436A probably benign Het
Kit A G 5: 75,609,318 D130G probably benign Het
Krt12 A G 11: 99,422,096 S41P unknown Het
Lypd6b G T 2: 49,943,540 S64I probably damaging Het
Mpc1 T A 17: 8,288,588 probably null Het
Olfr1443 A T 19: 12,680,404 M99L probably benign Het
Pard3b T A 1: 62,159,452 I233N probably damaging Het
Pcdh1 A G 18: 38,199,458 V164A probably benign Het
Pclo A G 5: 14,679,918 probably benign Het
Pkhd1l1 T C 15: 44,592,026 probably null Het
Spata31d1d T C 13: 59,727,462 Q753R probably benign Het
Stxbp6 A G 12: 44,902,858 probably null Het
Trav6-5 T C 14: 53,491,381 S32P probably benign Het
Zp3r A C 1: 130,577,054 D470E possibly damaging Het
Other mutations in Olfr1214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02650:Olfr1214 APN 2 88988080 missense probably benign 0.00
IGL03409:Olfr1214 APN 2 88987587 missense possibly damaging 0.93
R0046:Olfr1214 UTSW 2 88987349 missense probably benign 0.00
R0046:Olfr1214 UTSW 2 88987349 missense probably benign 0.00
R0503:Olfr1214 UTSW 2 88987978 missense probably benign 0.01
R0688:Olfr1214 UTSW 2 88987595 missense probably damaging 1.00
R1120:Olfr1214 UTSW 2 88988079 missense possibly damaging 0.51
R1752:Olfr1214 UTSW 2 88987315 missense possibly damaging 0.60
R2018:Olfr1214 UTSW 2 88988145 missense probably benign 0.06
R2281:Olfr1214 UTSW 2 88987470 missense probably benign 0.03
R2509:Olfr1214 UTSW 2 88987431 missense probably damaging 1.00
R2862:Olfr1214 UTSW 2 88987320 missense probably benign
R4894:Olfr1214 UTSW 2 88987439 missense possibly damaging 0.83
R4899:Olfr1214 UTSW 2 88988110 missense probably null 0.13
R5089:Olfr1214 UTSW 2 88988172 missense probably damaging 1.00
R5253:Olfr1214 UTSW 2 88988100 missense possibly damaging 0.67
R5338:Olfr1214 UTSW 2 88987465 missense possibly damaging 0.87
R6476:Olfr1214 UTSW 2 88987377 missense probably benign 0.06
Z1177:Olfr1214 UTSW 2 88987881 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AAGTGCACAGCAAAGACCTG -3'
(R):5'- TCAGGTATGGCTTCTAATGTCTTC -3'

Sequencing Primer
(F):5'- GACCTGTGTCATACAACATTCAAAAG -3'
(R):5'- GAGAGCTGAAATGTCAAATGTGATTC -3'
Posted On2015-04-30