Incidental Mutation 'IGL00331:Olfr1471'
ID3233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1471
Ensembl Gene ENSMUSG00000096320
Gene Nameolfactory receptor 1471
SynonymsMOR202-47_p, MOR202-38, GA_x6K02T2RE5P-3777626-3778570
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL00331
Quality Score
Status
Chromosome19
Chromosomal Location13443409-13451527 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13445624 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 204 (D204G)
Ref Sequence ENSEMBL: ENSMUSP00000149948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096203] [ENSMUST00000217249] [ENSMUST00000217482]
Predicted Effect probably benign
Transcript: ENSMUST00000096203
AA Change: D204G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: D204G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.1e-53 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.1e-8 PFAM
Pfam:7tm_1 39 288 4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
Predicted Effect probably benign
Transcript: ENSMUST00000217249
AA Change: D204G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217482
AA Change: D204G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Alox5 A T 6: 116,415,517 W348R probably damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Flii A G 11: 60,715,833 I1061T probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hoxa2 T G 6: 52,163,517 Y163S probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Mocs1 T G 17: 49,435,264 probably null Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sergef C T 7: 46,635,420 probably null Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tbc1d13 T A 2: 30,140,511 Y113N probably damaging Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Olfr1471
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Olfr1471 APN 19 13445162 missense probably damaging 1.00
IGL02515:Olfr1471 APN 19 13445108 missense probably damaging 1.00
IGL02838:Olfr1471 APN 19 13445935 missense probably benign
IGL03182:Olfr1471 APN 19 13445443 missense possibly damaging 0.93
R0267:Olfr1471 UTSW 19 13445428 missense probably damaging 0.99
R0524:Olfr1471 UTSW 19 13445864 missense probably damaging 1.00
R1584:Olfr1471 UTSW 19 13445659 missense probably damaging 1.00
R2253:Olfr1471 UTSW 19 13445185 missense probably damaging 1.00
R5267:Olfr1471 UTSW 19 13445111 missense probably damaging 1.00
R6419:Olfr1471 UTSW 19 13445767 missense probably benign 0.00
R6495:Olfr1471 UTSW 19 13445625 missense probably benign 0.43
Z1088:Olfr1471 UTSW 19 13445849 missense possibly damaging 0.94
Posted On2012-04-20