Incidental Mutation 'IGL02269:Olfr143'
ID287039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr143
Ensembl Gene ENSMUSG00000094778
Gene Nameolfactory receptor 143
SynonymsK18, GA_x6K02T2PVTD-31941084-31942025, MOR170-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02269
Quality Score
Status
Chromosome9
Chromosomal Location38252774-38256549 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38253936 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 173 (D173V)
Ref Sequence ENSEMBL: ENSMUSP00000091388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093865] [ENSMUST00000212354] [ENSMUST00000213129]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093865
AA Change: D173V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091388
Gene: ENSMUSG00000094778
AA Change: D173V

DomainStartEndE-ValueType
Pfam:7tm_4 34 310 1e-49 PFAM
Pfam:7tm_1 44 293 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212354
AA Change: D170V
Predicted Effect possibly damaging
Transcript: ENSMUST00000213129
AA Change: D170V

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,942,598 V59A unknown Het
A2ml1 C A 6: 128,553,338 probably benign Het
Akap13 G A 7: 75,602,911 R263H probably benign Het
B3galt5 A G 16: 96,315,530 D121G possibly damaging Het
Becn1 A G 11: 101,291,535 probably benign Het
Carmil1 A T 13: 24,155,410 L150* probably null Het
Cep170 A T 1: 176,769,366 M475K probably benign Het
Cyp24a1 C T 2: 170,496,572 G68D probably damaging Het
Cyp3a44 A T 5: 145,805,737 I18N probably benign Het
Dmrt2 T C 19: 25,678,459 V474A probably benign Het
Dtnb A G 12: 3,596,691 D64G probably damaging Het
Epb41l3 T C 17: 69,247,573 S223P probably damaging Het
Ephb2 A G 4: 136,771,049 Y240H possibly damaging Het
Extl3 T C 14: 65,077,583 Y50C probably damaging Het
Fat3 A C 9: 15,915,577 S4360A possibly damaging Het
Fbxo9 A T 9: 78,087,553 V230E probably damaging Het
Frmd4a T C 2: 4,604,234 M971T probably benign Het
Gm7275 A G 16: 48,073,822 noncoding transcript Het
Hyal6 C T 6: 24,740,859 T337I probably damaging Het
Obsl1 C T 1: 75,487,713 V1650M probably damaging Het
Olfr341 A T 2: 36,479,567 S188T possibly damaging Het
Olfr619 T A 7: 103,603,882 I76N probably damaging Het
Olfr860 A T 9: 19,845,728 I297N possibly damaging Het
Pcdh7 A C 5: 57,913,322 E1114A probably damaging Het
Pde8a C T 7: 81,308,802 probably benign Het
Pdzrn4 A T 15: 92,769,850 S628C probably damaging Het
Pear1 C T 3: 87,756,264 G376S probably damaging Het
Plekha6 C T 1: 133,287,849 T644M possibly damaging Het
Plpp1 T A 13: 112,856,992 C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 T793M possibly damaging Het
Rdh13 A T 7: 4,445,498 L5Q possibly damaging Het
Rimbp2 G T 5: 128,774,295 D862E probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scamp1 C T 13: 94,232,186 probably benign Het
Scamp3 A G 3: 89,180,734 T178A probably benign Het
Sh3tc1 A G 5: 35,706,284 V853A probably benign Het
Snrnp200 C T 2: 127,229,991 T1197M possibly damaging Het
Sult3a1 T C 10: 33,879,263 F275L probably benign Het
Tenm4 A T 7: 96,823,822 I905F probably damaging Het
Tgm3 T A 2: 130,024,518 S119T probably benign Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem45b G T 9: 31,427,983 C145* probably null Het
Unc5c G A 3: 141,788,982 R352H probably damaging Het
Vmn2r12 A G 5: 109,086,477 L623P probably damaging Het
Vmn2r68 T C 7: 85,221,739 M779V possibly damaging Het
Zfhx2 T C 14: 55,071,936 N902S probably benign Het
Other mutations in Olfr143
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0417:Olfr143 UTSW 9 38253864 missense probably benign 0.03
R1191:Olfr143 UTSW 9 38254205 missense probably damaging 0.99
R1863:Olfr143 UTSW 9 38253720 missense probably damaging 0.99
R1868:Olfr143 UTSW 9 38253690 missense probably damaging 1.00
R2252:Olfr143 UTSW 9 38253830 missense probably benign
R5128:Olfr143 UTSW 9 38253570 missense probably damaging 1.00
R7254:Olfr143 UTSW 9 38253423 missense probably benign 0.04
R7455:Olfr143 UTSW 9 38254254 missense probably damaging 0.98
R7504:Olfr143 UTSW 9 38254243 missense possibly damaging 0.60
R7881:Olfr143 UTSW 9 38254110 missense probably benign 0.31
R7964:Olfr143 UTSW 9 38254110 missense probably benign 0.31
Z1176:Olfr143 UTSW 9 38253852 missense probably benign
Posted On2015-04-16