Incidental Mutation 'R3606:Or5i1'
ID 269075
Institutional Source Beutler Lab
Gene Symbol Or5i1
Ensembl Gene ENSMUSG00000068816
Gene Name olfactory receptor family 5 subfamily I member 1
Synonyms GA_x6K02T2Q125-49283184-49284128, Olfr152, Olfr4-1, V1, MOR181-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R3606 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87612880-87613830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87613551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 222 (F222L)
Ref Sequence ENSEMBL: ENSMUSP00000150778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090709] [ENSMUST00000105210] [ENSMUST00000215394]
AlphaFold G3X9L8
Predicted Effect probably benign
Transcript: ENSMUST00000090709
AA Change: F224L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: F224L

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 4.3e-49 PFAM
Pfam:7tm_1 45 314 7.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105210
AA Change: F222L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: F222L

DomainStartEndE-ValueType
Pfam:7tm_1 43 292 6.4e-28 PFAM
Pfam:7tm_4 141 285 1.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213624
Predicted Effect probably benign
Transcript: ENSMUST00000215394
AA Change: F222L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b T C 13: 14,294,826 (GRCm39) V36A probably damaging Het
Cd101 A T 3: 100,927,913 (GRCm39) I56N probably damaging Het
Cs A T 10: 128,195,892 (GRCm39) H367L probably benign Het
Ddb1 A G 19: 10,605,857 (GRCm39) E1095G probably damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Ift70a1 T C 2: 75,811,621 (GRCm39) D154G probably benign Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Myom2 T C 8: 15,119,775 (GRCm39) V177A probably damaging Het
Nelfcd A G 2: 174,268,337 (GRCm39) Y525C probably benign Het
Or2t49 C T 11: 58,392,957 (GRCm39) V148M possibly damaging Het
Pcdhgc5 A G 18: 37,953,560 (GRCm39) D278G probably benign Het
Peg3 T C 7: 6,711,508 (GRCm39) E1238G probably damaging Het
Plekha7 T C 7: 115,763,477 (GRCm39) D313G possibly damaging Het
Ppp1r9a A G 6: 5,113,674 (GRCm39) N726S possibly damaging Het
Psmd3 C T 11: 98,581,780 (GRCm39) R302W probably damaging Het
Ptbp2 A G 3: 119,541,281 (GRCm39) L223P probably damaging Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rundc3b A T 5: 8,562,386 (GRCm39) D327E probably damaging Het
Tsr1 T C 11: 74,796,059 (GRCm39) S562P probably benign Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Other mutations in Or5i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Or5i1 APN 2 87,612,883 (GRCm39) missense probably benign
IGL01124:Or5i1 APN 2 87,613,720 (GRCm39) missense probably benign 0.01
IGL01383:Or5i1 APN 2 87,613,217 (GRCm39) missense possibly damaging 0.92
IGL01501:Or5i1 APN 2 87,613,480 (GRCm39) missense possibly damaging 0.85
IGL02279:Or5i1 APN 2 87,613,576 (GRCm39) missense probably damaging 0.99
R0141:Or5i1 UTSW 2 87,613,049 (GRCm39) missense possibly damaging 0.74
R0212:Or5i1 UTSW 2 87,613,826 (GRCm39) missense unknown
R0492:Or5i1 UTSW 2 87,613,166 (GRCm39) missense probably damaging 1.00
R1611:Or5i1 UTSW 2 87,612,968 (GRCm39) missense probably benign 0.38
R1697:Or5i1 UTSW 2 87,612,929 (GRCm39) missense possibly damaging 0.95
R4583:Or5i1 UTSW 2 87,613,565 (GRCm39) missense possibly damaging 0.76
R4646:Or5i1 UTSW 2 87,613,565 (GRCm39) missense possibly damaging 0.76
R4648:Or5i1 UTSW 2 87,613,565 (GRCm39) missense possibly damaging 0.76
R4853:Or5i1 UTSW 2 87,613,526 (GRCm39) missense probably benign 0.04
R6102:Or5i1 UTSW 2 87,613,192 (GRCm39) missense probably damaging 1.00
R6154:Or5i1 UTSW 2 87,613,100 (GRCm39) missense possibly damaging 0.94
R7637:Or5i1 UTSW 2 87,613,778 (GRCm39) missense probably damaging 1.00
R8306:Or5i1 UTSW 2 87,613,830 (GRCm39) makesense probably null
R9294:Or5i1 UTSW 2 87,612,867 (GRCm39) critical splice acceptor site probably null
R9461:Or5i1 UTSW 2 87,612,883 (GRCm39) missense probably benign
Z1088:Or5i1 UTSW 2 87,612,972 (GRCm39) missense probably damaging 1.00
Z1176:Or5i1 UTSW 2 87,613,368 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCAACATGAGTTCTTTGGTTC -3'
(R):5'- CAATGGGTTTAGCACTGGGATG -3'

Sequencing Primer
(F):5'- ACATGAGTTCTTTGGTTCACACATC -3'
(R):5'- TTAGCACTGGGATGATAATAGTGTAG -3'
Posted On 2015-02-19