Incidental Mutation 'IGL02534:Olfr538'
ID297414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr538
Ensembl Gene ENSMUSG00000095901
Gene Nameolfactory receptor 538
SynonymsMOR253-13P, MOR253-13P, GA_x6K02T2PBJ9-42723314-42724246, MOR253-10P, Olfr1553-ps1, MOR253-12P, Olfr1523-ps1, MOR253-12P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL02534
Quality Score
Status
Chromosome7
Chromosomal Location140567886-140575793 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140574641 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 163 (M163L)
Ref Sequence ENSEMBL: ENSMUSP00000147315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084457] [ENSMUST00000210973]
Predicted Effect probably benign
Transcript: ENSMUST00000084457
AA Change: M163L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: M163L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 304 2.8e-6 PFAM
Pfam:7tm_1 41 290 2.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210973
AA Change: M163L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 C T 13: 95,369,522 E186K possibly damaging Het
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9 G T 3: 97,215,229 L85M probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Cpa2 T A 6: 30,550,768 D201E probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Ppp1r17 C A 6: 56,026,460 S86* probably null Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Rsph14 C A 10: 74,957,634 V345F probably damaging Het
Slc11a2 T A 15: 100,401,326 Q121L probably benign Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 probably benign Het
Other mutations in Olfr538
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01894:Olfr538 APN 7 140574770 missense possibly damaging 0.93
IGL02066:Olfr538 APN 7 140574500 missense possibly damaging 0.55
IGL02214:Olfr538 APN 7 140574557 nonsense probably null
IGL02466:Olfr538 APN 7 140574771 missense probably benign 0.01
R0631:Olfr538 UTSW 7 140574507 missense probably damaging 1.00
R0989:Olfr538 UTSW 7 140574287 missense probably damaging 0.99
R1470:Olfr538 UTSW 7 140574749 missense probably benign 0.02
R1470:Olfr538 UTSW 7 140574749 missense probably benign 0.02
R1533:Olfr538 UTSW 7 140575121 unclassified probably null
R1764:Olfr538 UTSW 7 140574470 missense probably damaging 0.97
R2184:Olfr538 UTSW 7 140574402 missense probably benign
R2513:Olfr538 UTSW 7 140574156 start codon destroyed probably null 0.97
R4445:Olfr538 UTSW 7 140574389 missense probably damaging 1.00
R4476:Olfr538 UTSW 7 140574929 missense probably damaging 1.00
R4607:Olfr538 UTSW 7 140574641 missense probably benign 0.02
R4608:Olfr538 UTSW 7 140574641 missense probably benign 0.02
R4752:Olfr538 UTSW 7 140574602 missense possibly damaging 0.57
R6934:Olfr538 UTSW 7 140574651 missense probably damaging 1.00
R6978:Olfr538 UTSW 7 140574287 missense probably damaging 0.99
R7559:Olfr538 UTSW 7 140574443 missense probably damaging 1.00
R7583:Olfr538 UTSW 7 140574210 missense probably benign 0.01
R7685:Olfr538 UTSW 7 140574246 missense probably damaging 1.00
Z1177:Olfr538 UTSW 7 140574956 missense probably benign 0.15
Posted On2015-04-16