Incidental Mutation 'IGL02301:Olfr814'
ID 290277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr814
Ensembl Gene ENSMUSG00000059134
Gene Name olfactory receptor 814
Synonyms MOR113-5, MOR113-8, GA_x6K02T2PULF-11553313-11552381
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02301
Quality Score
Status
Chromosome 10
Chromosomal Location 129871473-129879851 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129874079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 226 (F226S)
Ref Sequence ENSEMBL: ENSMUSP00000150458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081367] [ENSMUST00000213742] [ENSMUST00000216966]
AlphaFold Q7TRH4
Predicted Effect probably damaging
Transcript: ENSMUST00000081367
AA Change: F226S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: F226S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.2e-47 PFAM
Pfam:7tm_1 39 288 1.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213742
AA Change: F226S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216966
AA Change: F226S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Atf7ip2 T G 16: 10,211,047 S148A probably benign Het
Bpi C T 2: 158,274,814 S377F probably damaging Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Cd5l A G 3: 87,365,993 R90G probably benign Het
Ceacam3 C T 7: 17,163,101 S664F probably damaging Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Pde5a G A 3: 122,760,885 R208Q probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Ptgdr2 T A 19: 10,940,209 I30N possibly damaging Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G probably damaging Het
Other mutations in Olfr814
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01831:Olfr814 APN 10 129874031 missense probably damaging 1.00
IGL02045:Olfr814 APN 10 129874222 missense probably benign 0.22
R0277:Olfr814 UTSW 10 129874067 missense probably damaging 0.99
R0281:Olfr814 UTSW 10 129874546 missense possibly damaging 0.88
R0323:Olfr814 UTSW 10 129874067 missense probably damaging 0.99
R0394:Olfr814 UTSW 10 129873942 missense probably benign 0.29
R0546:Olfr814 UTSW 10 129874538 missense possibly damaging 0.94
R3813:Olfr814 UTSW 10 129873986 missense probably damaging 1.00
R4086:Olfr814 UTSW 10 129874298 missense possibly damaging 0.49
R4415:Olfr814 UTSW 10 129873957 missense probably benign 0.00
R4416:Olfr814 UTSW 10 129873957 missense probably benign 0.00
R4453:Olfr814 UTSW 10 129874661 missense probably null 0.30
R5194:Olfr814 UTSW 10 129874098 missense probably benign 0.00
R5306:Olfr814 UTSW 10 129873941 missense probably damaging 0.97
R5362:Olfr814 UTSW 10 129874553 missense probably damaging 1.00
R5609:Olfr814 UTSW 10 129874738 missense probably benign 0.01
R5987:Olfr814 UTSW 10 129874521 missense probably damaging 0.98
R6240:Olfr814 UTSW 10 129874677 missense probably benign
R6896:Olfr814 UTSW 10 129874754 start codon destroyed probably null 0.98
R7432:Olfr814 UTSW 10 129873850 missense probably benign
R7489:Olfr814 UTSW 10 129874682 missense probably damaging 1.00
R7652:Olfr814 UTSW 10 129874477 missense probably damaging 0.99
R8316:Olfr814 UTSW 10 129874022 missense probably damaging 1.00
R8725:Olfr814 UTSW 10 129874223 missense probably damaging 1.00
R8727:Olfr814 UTSW 10 129874223 missense probably damaging 1.00
R9089:Olfr814 UTSW 10 129874619 missense probably damaging 1.00
R9538:Olfr814 UTSW 10 129873893 missense probably damaging 1.00
Posted On 2015-04-16