Incidental Mutation 'IGL00743:Olfr971'
ID12860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr971
Ensembl Gene ENSMUSG00000093934
Gene Nameolfactory receptor 971
SynonymsMOR171-13, GA_x6K02T2PVTD-33539896-33540819
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL00743
Quality Score
Status
Chromosome9
Chromosomal Location39836876-39841281 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39839706 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 91 (I91F)
Ref Sequence ENSEMBL: ENSMUSP00000148850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075467] [ENSMUST00000214242]
Predicted Effect probably benign
Transcript: ENSMUST00000075467
AA Change: I91F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: I91F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.6e-53 PFAM
Pfam:7tm_1 41 290 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214242
AA Change: I91F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Olfr971
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Olfr971 APN 9 39839934 missense probably benign
IGL01759:Olfr971 APN 9 39839611 missense probably damaging 0.99
IGL02867:Olfr971 APN 9 39840237 missense probably benign 0.03
IGL02889:Olfr971 APN 9 39840237 missense probably benign 0.03
IGL02900:Olfr971 APN 9 39839812 missense probably damaging 1.00
IGL03333:Olfr971 APN 9 39840012 missense probably damaging 0.98
R0831:Olfr971 UTSW 9 39840283 missense probably damaging 1.00
R1004:Olfr971 UTSW 9 39839980 missense probably benign 0.21
R1711:Olfr971 UTSW 9 39840285 missense probably benign 0.39
R3900:Olfr971 UTSW 9 39839402 splice site probably null
R4424:Olfr971 UTSW 9 39840356 missense possibly damaging 0.52
R4530:Olfr971 UTSW 9 39840083 missense probably benign
R5385:Olfr971 UTSW 9 39839830 missense possibly damaging 0.95
R5386:Olfr971 UTSW 9 39839830 missense possibly damaging 0.95
R7199:Olfr971 UTSW 9 39839457 missense probably benign
R7849:Olfr971 UTSW 9 39840322 missense possibly damaging 0.59
R8193:Olfr971 UTSW 9 39839461 missense probably benign 0.00
R8342:Olfr971 UTSW 9 39840316 missense probably damaging 1.00
Posted On2012-12-06