Incidental Mutation 'IGL03280:Olfr1121'
ID 415548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1121
Ensembl Gene ENSMUSG00000070852
Gene Name olfactory receptor 1121
Synonyms MOR264-18, GA_x6K02T2Q125-48863863-48864807
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL03280
Quality Score
Status
Chromosome 2
Chromosomal Location 87369895-87373469 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87372123 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 197 (D197V)
Ref Sequence ENSEMBL: ENSMUSP00000150120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062555] [ENSMUST00000213792]
AlphaFold L7MTT1
Predicted Effect probably damaging
Transcript: ENSMUST00000062555
AA Change: D197V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058201
Gene: ENSMUSG00000070852
AA Change: D197V

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 3.3e-54 PFAM
Pfam:7tm_1 47 296 3.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213792
AA Change: D197V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Asb4 T C 6: 5,423,416 S188P probably benign Het
Bbs5 A G 2: 69,666,971 probably benign Het
Ccdc36 T C 9: 108,404,900 S530G possibly damaging Het
Cdh13 G T 8: 119,314,134 G693W probably damaging Het
Cdh7 T A 1: 110,108,768 Y559* probably null Het
Cemip G A 7: 83,987,330 probably benign Het
Crem A G 18: 3,273,415 probably benign Het
Crygf A G 1: 65,928,170 Y151C probably damaging Het
Dcp1b T C 6: 119,180,058 probably benign Het
Fanca A G 8: 123,316,459 probably benign Het
Fkbp15 A C 4: 62,303,267 probably benign Het
Gabrp C T 11: 33,552,616 R416Q probably benign Het
Gm13103 A T 4: 143,851,919 T250S possibly damaging Het
Impg2 T A 16: 56,268,268 Y1052* probably null Het
Isg15 T C 4: 156,199,862 M70V probably benign Het
Krit1 T A 5: 3,811,248 probably benign Het
Lrrn3 T C 12: 41,454,147 D57G probably damaging Het
Macrod1 A G 19: 7,197,572 E309G possibly damaging Het
Notch1 A T 2: 26,477,874 probably benign Het
Nptx1 T C 11: 119,544,729 T254A probably damaging Het
Pigm A G 1: 172,376,853 Y52C probably damaging Het
Rif1 A G 2: 52,112,599 T2022A probably benign Het
Rint1 T A 5: 23,817,078 L646Q probably damaging Het
Rpe65 A T 3: 159,604,341 I84F probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Scnn1a T C 6: 125,342,781 probably benign Het
Selenop T C 15: 3,280,622 probably benign Het
Siglecf T G 7: 43,355,930 V438G probably benign Het
St8sia4 T A 1: 95,653,774 probably benign Het
Tfeb T C 17: 47,785,937 F43S probably benign Het
Tgm6 A G 2: 130,138,931 Y216C probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A T 2: 76,898,467 C1234* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Usp24 T G 4: 106,380,430 I1095R probably damaging Het
Usp34 C T 11: 23,354,897 H377Y probably damaging Het
Other mutations in Olfr1121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02534:Olfr1121 APN 2 87372254 missense probably benign
R0501:Olfr1121 UTSW 2 87371552 missense probably damaging 0.96
R1350:Olfr1121 UTSW 2 87372357 missense probably benign
R1713:Olfr1121 UTSW 2 87371946 missense probably damaging 1.00
R2404:Olfr1121 UTSW 2 87372224 missense probably benign 0.09
R4737:Olfr1121 UTSW 2 87372321 missense probably damaging 0.99
R4825:Olfr1121 UTSW 2 87372088 nonsense probably null
R5109:Olfr1121 UTSW 2 87371534 start codon destroyed probably null 0.04
R5200:Olfr1121 UTSW 2 87372102 missense probably damaging 0.99
R6393:Olfr1121 UTSW 2 87371565 missense probably damaging 1.00
R6658:Olfr1121 UTSW 2 87372153 missense probably benign 0.01
R7011:Olfr1121 UTSW 2 87372260 missense possibly damaging 0.74
R7427:Olfr1121 UTSW 2 87371690 missense probably benign 0.01
R7428:Olfr1121 UTSW 2 87371690 missense probably benign 0.01
R7671:Olfr1121 UTSW 2 87372269 missense probably damaging 1.00
R8268:Olfr1121 UTSW 2 87371988 missense probably damaging 0.97
R9015:Olfr1121 UTSW 2 87372141 missense possibly damaging 0.48
R9344:Olfr1121 UTSW 2 87371817 missense possibly damaging 0.89
R9468:Olfr1121 UTSW 2 87371772 missense probably damaging 1.00
R9492:Olfr1121 UTSW 2 87371616 missense probably benign 0.12
Posted On 2016-08-02