Incidental Mutation 'R3812:Olfr1143'
ID274092
Institutional Source Beutler Lab
Gene Symbol Olfr1143
Ensembl Gene ENSMUSG00000068815
Gene Nameolfactory receptor 1143
SynonymsGA_x6K02T2Q125-49303473-49304405, MOR177-14
MMRRC Submission 040768-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #R3812 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location87800592-87804274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87803052 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 221 (S221F)
Ref Sequence ENSEMBL: ENSMUSP00000088210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090708] [ENSMUST00000099852] [ENSMUST00000111568]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090708
AA Change: S221F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088210
Gene: ENSMUSG00000068815
AA Change: S221F

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 2.6e-45 PFAM
Pfam:7tm_1 45 294 5.8e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099852
AA Change: S217F

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: S217F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-41 PFAM
Pfam:7tm_1 41 290 4.3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111568
AA Change: S217F

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107194
Gene: ENSMUSG00000068815
AA Change: S217F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-44 PFAM
Pfam:7tm_1 41 290 2.8e-16 PFAM
Meta Mutation Damage Score 0.5201 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (28/28)
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
Arid2 T C 15: 96,289,086 V73A probably benign Het
Bpifb2 T A 2: 153,891,951 D404E probably benign Het
Ccdc150 A G 1: 54,368,310 M1082V probably benign Het
Cyp4a31 T C 4: 115,566,509 S137P probably benign Het
Cyp4f15 A G 17: 32,686,177 I45V probably benign Het
Fbxw28 C A 9: 109,338,530 C53F possibly damaging Het
Galntl5 T C 5: 25,186,180 F26L probably benign Het
Gm9637 A T 14: 19,402,398 noncoding transcript Het
Lcmt2 G A 2: 121,138,706 A632V probably benign Het
Metap2 A T 10: 93,870,164 L252* probably null Het
Myo1a A G 10: 127,707,415 N180S possibly damaging Het
Nlrp4a T C 7: 26,449,693 W242R probably benign Het
Olfr1152 T A 2: 87,868,401 S137T probably damaging Het
Olfr1255 T A 2: 89,817,051 S242T probably damaging Het
Otogl A G 10: 107,899,471 Y151H probably damaging Het
Pkd1 T C 17: 24,565,641 V387A probably benign Het
Polm A G 11: 5,829,512 F429L possibly damaging Het
Sco2 T C 15: 89,373,679 probably benign Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Sorbs2 A G 8: 45,763,030 T105A probably benign Het
Syt10 A T 15: 89,790,797 C449S probably benign Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Txndc5 T C 13: 38,523,405 K99E probably benign Het
Usp34 T A 11: 23,464,517 F2820Y possibly damaging Het
Vmn1r170 T C 7: 23,606,292 S40P probably damaging Het
Zfp292 A T 4: 34,810,326 L906Q probably damaging Het
Other mutations in Olfr1143
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Olfr1143 APN 2 87803200 nonsense probably null
IGL01670:Olfr1143 APN 2 87802880 missense probably benign 0.10
IGL02503:Olfr1143 APN 2 87802520 missense probably benign 0.01
R0316:Olfr1143 UTSW 2 87803181 missense probably damaging 0.98
R1381:Olfr1143 UTSW 2 87803136 missense probably damaging 1.00
R1496:Olfr1143 UTSW 2 87802868 missense probably benign 0.00
R1753:Olfr1143 UTSW 2 87802762 missense probably benign 0.06
R2013:Olfr1143 UTSW 2 87802503 missense probably damaging 0.97
R2370:Olfr1143 UTSW 2 87802815 missense probably benign 0.35
R3810:Olfr1143 UTSW 2 87803052 missense possibly damaging 0.90
R3909:Olfr1143 UTSW 2 87802687 missense probably benign
R4227:Olfr1143 UTSW 2 87802875 missense probably damaging 0.97
R5753:Olfr1143 UTSW 2 87803252 missense probably benign 0.05
R6516:Olfr1143 UTSW 2 87802770 missense possibly damaging 0.81
Z1177:Olfr1143 UTSW 2 87803228 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCAGACTCTTTGATCCATAC -3'
(R):5'- GGGTTTAGCATGGGTATCACAAG -3'

Sequencing Primer
(F):5'- GACTCTTTGATCCATACAACATTGAC -3'
(R):5'- AAACAGGGAGCTCATTTTGTCTTG -3'
Posted On2015-04-02