Incidental Mutation 'IGL02468:Olfr1389'
ID294622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1389
Ensembl Gene ENSMUSG00000107573
Gene Nameolfactory receptor 1389
SynonymsGA_x6K02T2QP88-6004387-6003452, MOR256-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL02468
Quality Score
Status
Chromosome11
Chromosomal Location49423067-49432968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49431114 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 213 (I213F)
Ref Sequence ENSEMBL: ENSMUSP00000149222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000203369] [ENSMUST00000216641] [ENSMUST00000217595]
Predicted Effect probably damaging
Transcript: ENSMUST00000203369
AA Change: I213F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145461
Gene: ENSMUSG00000107573
AA Change: I213F

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 1.9e-49 PFAM
Pfam:7tm_1 41 289 6.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216641
AA Change: I213F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217595
AA Change: I213F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik G T 10: 81,365,729 L20I possibly damaging Het
Adgrl2 A T 3: 148,890,480 D73E probably damaging Het
Aspm A G 1: 139,480,950 Y2525C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep89 T G 7: 35,403,152 S97A probably benign Het
Clec16a T A 16: 10,741,878 I1005N probably benign Het
Cog5 T C 12: 31,837,358 probably null Het
Crybg2 T C 4: 134,082,587 S1217P probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cytip A T 2: 58,134,013 M265K probably benign Het
Ddx60 T G 8: 61,958,642 S509R probably damaging Het
Fat4 T C 3: 38,983,046 S3616P probably benign Het
Galnt9 T C 5: 110,614,223 F409S possibly damaging Het
Hrh2 T C 13: 54,214,809 V268A probably benign Het
Ifi47 T A 11: 49,095,983 S192R probably damaging Het
Igdcc4 T C 9: 65,126,832 Y596H probably damaging Het
Lamb2 T C 9: 108,487,149 C1096R probably damaging Het
March1 A G 8: 66,418,911 Q109R probably damaging Het
Olfr39 T C 9: 20,286,278 L201P probably damaging Het
Olfr851 G T 9: 19,497,177 C143F probably benign Het
Patl1 T A 19: 11,932,210 V500D probably damaging Het
Pbx3 A T 2: 34,224,577 L57H probably damaging Het
Pcdhb1 T C 18: 37,266,178 V394A probably benign Het
Pogz A G 3: 94,879,083 N994S probably damaging Het
Prom1 T A 5: 44,029,698 M406L probably benign Het
Psg26 T C 7: 18,478,462 S323G probably damaging Het
Ptprm T C 17: 66,814,509 T854A probably benign Het
Puf60 A C 15: 76,075,836 probably benign Het
Six2 C T 17: 85,685,503 E191K possibly damaging Het
Tbc1d17 A G 7: 44,848,329 F40L probably benign Het
Thsd7a A G 6: 12,318,171 V1600A probably damaging Het
Tm4sf19 C A 16: 32,407,715 probably benign Het
Tnfrsf1a A G 6: 125,357,861 T33A probably benign Het
Troap A T 15: 99,075,361 T3S possibly damaging Het
Wdfy4 T A 14: 32,966,432 I3074L probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Olfr1389
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Olfr1389 APN 11 49431032 missense probably damaging 1.00
IGL02607:Olfr1389 APN 11 49430512 missense probably damaging 1.00
IGL02721:Olfr1389 APN 11 49430641 nonsense probably null
IGL02812:Olfr1389 APN 11 49430922 missense probably damaging 1.00
IGL03086:Olfr1389 APN 11 49430805 missense probably benign 0.03
IGL03047:Olfr1389 UTSW 11 49430967 missense probably benign 0.10
PIT4531001:Olfr1389 UTSW 11 49430926 missense probably benign 0.01
R0413:Olfr1389 UTSW 11 49431385 missense possibly damaging 0.82
R0598:Olfr1389 UTSW 11 49431403 missense probably benign 0.00
R0653:Olfr1389 UTSW 11 49431251 nonsense probably null
R1654:Olfr1389 UTSW 11 49430502 missense probably benign 0.00
R2321:Olfr1389 UTSW 11 49431280 missense probably benign 0.00
R4995:Olfr1389 UTSW 11 49430655 missense probably damaging 1.00
R5670:Olfr1389 UTSW 11 49431208 missense probably damaging 1.00
R6127:Olfr1389 UTSW 11 49430806 missense probably damaging 0.97
R6327:Olfr1389 UTSW 11 49431001 missense probably damaging 1.00
R6935:Olfr1389 UTSW 11 49430998 missense probably damaging 0.97
R7726:Olfr1389 UTSW 11 49430900 nonsense probably null
Posted On2015-04-16