Incidental Mutation 'IGL02422:Olfr1084'
ID292702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1084
Ensembl Gene ENSMUSG00000110804
Gene Nameolfactory receptor 1084
SynonymsGA_x6K02T2Q125-48121788-48120847, MOR192-2, MOR192-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.196) question?
Stock #IGL02422
Quality Score
Status
Chromosome2
Chromosomal Location86638765-86639725 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86639216 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 164 (F164S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000216851]
Predicted Effect probably damaging
Transcript: ENSMUST00000099880
AA Change: F164S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097465
Gene: ENSMUSG00000075177
AA Change: F164S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5.9e-48 PFAM
Pfam:7tm_1 41 290 7.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216851
AA Change: F164S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Olfr1084
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Olfr1084 APN 2 86639166 missense probably benign 0.01
IGL01376:Olfr1084 APN 2 86639609 missense probably benign 0.00
IGL01387:Olfr1084 APN 2 86639250 missense probably benign 0.03
IGL01549:Olfr1084 APN 2 86639361 missense probably benign 0.29
IGL01549:Olfr1084 APN 2 86639532 missense possibly damaging 0.95
IGL01572:Olfr1084 APN 2 86638939 missense possibly damaging 0.92
IGL02084:Olfr1084 APN 2 86639636 missense possibly damaging 0.89
IGL02289:Olfr1084 APN 2 86639519 missense probably damaging 1.00
IGL02691:Olfr1084 APN 2 86638838 missense probably damaging 1.00
IGL02829:Olfr1084 APN 2 86639255 missense possibly damaging 0.60
IGL02859:Olfr1084 APN 2 86639648 missense probably benign 0.01
R0441:Olfr1084 UTSW 2 86639330 missense probably damaging 1.00
R0546:Olfr1084 UTSW 2 86639229 missense possibly damaging 0.86
R1186:Olfr1084 UTSW 2 86639463 missense probably damaging 1.00
R4465:Olfr1084 UTSW 2 86639134 missense probably benign 0.28
R4554:Olfr1084 UTSW 2 86638779 missense possibly damaging 0.74
R4670:Olfr1084 UTSW 2 86639168 missense possibly damaging 0.95
R4945:Olfr1084 UTSW 2 86639489 missense probably damaging 0.99
R5348:Olfr1084 UTSW 2 86638806 missense probably benign 0.39
R5888:Olfr1084 UTSW 2 86639144 missense probably damaging 0.98
Posted On2015-04-16