Incidental Mutation 'IGL00231:Olfr284'
ID2120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr284
Ensembl Gene ENSMUSG00000051793
Gene Nameolfactory receptor 284
SynonymsMOR160-4, GA_x6K02T2NBG7-5395976-5396893
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL00231
Quality Score
Status
Chromosome15
Chromosomal Location98340022-98340987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98340173 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 256 (S256N)
Ref Sequence ENSEMBL: ENSMUSP00000065626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063289] [ENSMUST00000206647]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063289
AA Change: S256N

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065626
Gene: ENSMUSG00000051793
AA Change: S256N

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 5.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 33 259 1.3e-5 PFAM
Pfam:7tm_1 39 286 5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206647
AA Change: S272N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A G 3: 91,088,358 M79T probably benign Het
Adamtsl1 A G 4: 86,385,640 T1346A probably benign Het
Ccdc102a T C 8: 94,911,638 probably null Het
Cgrrf1 T C 14: 46,832,322 F16S probably damaging Het
Clybl T C 14: 122,379,198 probably benign Het
Cubn T C 2: 13,381,849 E1535G possibly damaging Het
Dmrtc1b C A X: 102,713,627 P226H probably benign Het
Dnah17 G A 11: 118,088,214 A1784V possibly damaging Het
Dnajc24 A G 2: 106,002,003 Y12H probably damaging Het
Drd1 T C 13: 54,053,467 T236A probably benign Het
Ep400 A T 5: 110,687,841 V1934D unknown Het
Flt1 A G 5: 147,580,300 probably null Het
Fut8 A G 12: 77,448,488 K284R probably benign Het
Hcn1 A G 13: 117,975,993 E831G probably damaging Het
Inpp5j A T 11: 3,500,009 probably benign Het
Insig2 A G 1: 121,305,947 Y213H probably damaging Het
Kcnh4 G A 11: 100,756,995 probably benign Het
Kifc2 T A 15: 76,667,462 probably benign Het
Krt75 T C 15: 101,572,646 E231G probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd4b2 T A 10: 39,925,061 probably benign Het
Micall2 T A 5: 139,717,556 probably null Het
Olfr1123 A G 2: 87,418,566 T173A possibly damaging Het
Osbp2 C T 11: 3,726,561 D287N possibly damaging Het
Plin1 A G 7: 79,726,660 probably benign Het
Ppl T C 16: 5,089,545 N962S probably benign Het
Psg25 C T 7: 18,526,181 probably benign Het
Ptprt A T 2: 161,810,624 D601E probably benign Het
Sbno2 C A 10: 80,064,506 probably benign Het
Sntg2 T C 12: 30,276,721 D147G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Stam2 T A 2: 52,706,406 I307F possibly damaging Het
Tbx21 T G 11: 97,098,923 E481A probably damaging Het
Tsc2 G A 17: 24,608,107 T876I probably damaging Het
Wdfy4 T C 14: 33,102,539 I1308V possibly damaging Het
Wdr37 C T 13: 8,820,505 V143I probably damaging Het
Wdr43 T G 17: 71,652,814 Y550D probably damaging Het
Wnk4 A G 11: 101,268,748 D593G possibly damaging Het
Other mutations in Olfr284
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02904:Olfr284 APN 15 98340848 missense probably null 0.88
PIT4378001:Olfr284 UTSW 15 98340272 missense possibly damaging 0.95
R0485:Olfr284 UTSW 15 98340929 missense probably benign 0.01
R1435:Olfr284 UTSW 15 98340328 missense possibly damaging 0.69
R4706:Olfr284 UTSW 15 98340778 missense possibly damaging 0.62
R4707:Olfr284 UTSW 15 98340778 missense possibly damaging 0.62
R5272:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5314:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5315:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5316:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5317:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5456:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5458:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5548:Olfr284 UTSW 15 98340372 missense probably benign 0.21
R5717:Olfr284 UTSW 15 98340365 missense probably benign 0.00
R5921:Olfr284 UTSW 15 98340429 missense probably benign 0.10
R6519:Olfr284 UTSW 15 98340048 missense probably benign 0.00
R6636:Olfr284 UTSW 15 98340950 missense probably benign 0.23
R7112:Olfr284 UTSW 15 98340540 missense possibly damaging 0.81
R7289:Olfr284 UTSW 15 98340062 missense probably damaging 1.00
R7392:Olfr284 UTSW 15 98340311 missense probably benign 0.03
R7403:Olfr284 UTSW 15 98340119 missense probably damaging 1.00
R7633:Olfr284 UTSW 15 98340086 missense probably damaging 1.00
R7724:Olfr284 UTSW 15 98340894 missense possibly damaging 0.89
Posted On2011-12-09