Incidental Mutation 'R0212:Or5i1'
ID 33513
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
MMRRC Submission 038463-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R0212 (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 T at 87613826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 314 (P314L)
Ref Sequence ENSEMBL: ENSMUSP00000150778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090709] [ENSMUST00000105210] [ENSMUST00000215394]
AlphaFold G3X9L8
Predicted Effect unknown
Transcript: ENSMUST00000090709
AA Change: P316L
SMART Domains Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: P316L

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 4.3e-49 PFAM
Pfam:7tm_1 45 314 7.9e-22 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000105210
AA Change: P314L
SMART Domains Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: P314L

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 unknown
Transcript: ENSMUST00000215394
AA Change: P314L
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,006,254 (GRCm39) probably null Het
Adat1 T A 8: 112,713,840 (GRCm39) D113V possibly damaging Het
Arhgap40 T G 2: 158,392,495 (GRCm39) L656V probably damaging Het
Atg2a T C 19: 6,296,584 (GRCm39) I330T probably damaging Het
Cad A G 5: 31,235,454 (GRCm39) D2137G probably damaging Het
Cd8a G A 6: 71,350,633 (GRCm39) E33K probably benign Het
Cemip C A 7: 83,622,398 (GRCm39) G594C probably damaging Het
Chd6 T A 2: 160,894,767 (GRCm39) D31V probably damaging Het
Cmpk1 A T 4: 114,822,216 (GRCm39) M111K possibly damaging Het
Crispld2 T G 8: 120,737,370 (GRCm39) H40Q probably benign Het
Depdc5 A G 5: 33,069,586 (GRCm39) T441A probably benign Het
Dpm1 T C 2: 168,069,414 (GRCm39) N5S probably benign Het
Ercc4 A G 16: 12,941,196 (GRCm39) probably null Het
Fam83f A T 15: 80,574,779 (GRCm39) M229L probably benign Het
Fgd5 A T 6: 91,965,189 (GRCm39) D474V probably damaging Het
Fgf21 G T 7: 45,263,526 (GRCm39) P184Q probably benign Het
Fry A T 5: 150,419,862 (GRCm39) D1008V probably damaging Het
Gjd2 T C 2: 113,841,953 (GRCm39) T175A probably benign Het
Gphn C T 12: 78,684,326 (GRCm39) T577I probably damaging Het
Ifi207 A T 1: 173,563,964 (GRCm39) N18K possibly damaging Het
Ifne T C 4: 88,797,972 (GRCm39) R149G possibly damaging Het
Ift80 A T 3: 68,847,506 (GRCm39) L330H probably benign Het
Inpp4b A T 8: 82,497,546 (GRCm39) H122L probably benign Het
Inpp5e T C 2: 26,298,352 (GRCm39) probably null Het
Ism1 T C 2: 139,582,177 (GRCm39) L163S probably benign Het
Itga11 T A 9: 62,653,251 (GRCm39) V375E probably benign Het
Itpr3 T G 17: 27,308,293 (GRCm39) F306V probably damaging Het
Kif19a A T 11: 114,675,736 (GRCm39) I403F possibly damaging Het
Klf12 A T 14: 100,260,298 (GRCm39) S144T probably benign Het
Lyst C T 13: 13,810,570 (GRCm39) H747Y possibly damaging Het
Mccc2 A G 13: 100,091,163 (GRCm39) Y445H probably benign Het
Mei1 G A 15: 81,980,132 (GRCm39) probably null Het
Metap2 T A 10: 93,697,242 (GRCm39) K479N probably damaging Het
Mief2 A T 11: 60,621,493 (GRCm39) D62V probably damaging Het
Mtrf1 A G 14: 79,656,719 (GRCm39) D407G probably benign Het
Myo3a A G 2: 22,296,659 (GRCm39) R210G probably damaging Het
Nkx2-2 T C 2: 147,026,090 (GRCm39) H216R probably damaging Het
Nos1 A G 5: 118,048,277 (GRCm39) E694G possibly damaging Het
Nptn A T 9: 58,535,164 (GRCm39) Y103F probably benign Het
Nrxn1 A G 17: 90,670,186 (GRCm39) probably benign Het
Numbl T C 7: 26,980,184 (GRCm39) S389P probably damaging Het
Or10d5 A G 9: 39,861,236 (GRCm39) V277A probably benign Het
Or1q1 T A 2: 36,887,644 (GRCm39) V274E possibly damaging Het
Or1q1 A T 2: 36,887,335 (GRCm39) D171V probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5d16 A G 2: 87,773,435 (GRCm39) F179S probably damaging Het
Or8g20 C A 9: 39,396,384 (GRCm39) S55I probably damaging Het
Osm T G 11: 4,188,465 (GRCm39) S31A probably benign Het
Paqr4 T C 17: 23,957,294 (GRCm39) M70V probably benign Het
Pikfyve T A 1: 65,302,064 (GRCm39) Y1607N probably benign Het
Plec A C 15: 76,075,505 (GRCm39) Y402* probably null Het
Polq A G 16: 36,887,216 (GRCm39) K1631E probably damaging Het
Pou6f1 A G 15: 100,478,696 (GRCm39) V129A possibly damaging Het
Prm2 A G 16: 10,609,463 (GRCm39) probably benign Het
Prtn3 A G 10: 79,716,971 (GRCm39) Y112C probably damaging Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rps6ka5 A T 12: 100,519,428 (GRCm39) probably null Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Slc10a1 A C 12: 81,014,486 (GRCm39) L78R possibly damaging Het
Slc26a5 A T 5: 22,028,547 (GRCm39) Y340* probably null Het
Sptbn2 T C 19: 4,796,970 (GRCm39) probably null Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Tmem131l A T 3: 83,820,575 (GRCm39) S1226T probably benign Het
Togaram2 C T 17: 72,031,978 (GRCm39) L866F probably damaging Het
Txndc17 A G 11: 72,098,558 (GRCm39) T37A probably benign Het
Vmn2r105 C A 17: 20,428,827 (GRCm39) V750F possibly damaging Het
Vmn2r54 T A 7: 12,366,424 (GRCm39) Y170F probably benign Het
Wrnip1 T C 13: 33,005,889 (GRCm39) V577A probably benign Het
Zc3h7b A G 15: 81,660,529 (GRCm39) T226A probably benign Het
Zfp948 T C 17: 21,808,422 (GRCm39) I538T probably benign Het
Zzef1 A G 11: 72,764,736 (GRCm39) E1401G 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
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
R3606:Or5i1 UTSW 2 87,613,551 (GRCm39) missense probably benign 0.26
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'- CGTGTGCCTCTCACCTGACC -3'
(R):5'- ACCCCTGCCTCCTGAACCTTTAAAT -3'

Sequencing Primer
(F):5'- GGCCATCTATCAGGGCACAC -3'
(R):5'- ctgcctcCTGAACCTTTAAATTACTG -3'
Posted On 2013-05-09