Incidental Mutation 'R6102:Or5i1'
ID 485289
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 044252-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87612880-87613830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87613192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 103 (F103L)
Ref Sequence ENSEMBL: ENSMUSP00000150778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090709] [ENSMUST00000105210] [ENSMUST00000215394]
AlphaFold G3X9L8
Predicted Effect probably damaging
Transcript: ENSMUST00000090709
AA Change: F105L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: F105L

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 4.3e-49 PFAM
Pfam:7tm_1 45 314 7.9e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105210
AA Change: F103L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: F103L

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 damaging
Transcript: ENSMUST00000215394
AA Change: F103L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably 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
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
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'- GCCTGAACTCCAAATCATCTTG -3'
(R):5'- TGAACCAAAGAACTCATGTTGCC -3'

Sequencing Primer
(F):5'- GAACTCCAAATCATCTTGTTCCTTG -3'
(R):5'- TTGCCACCAACATATGACAGC -3'
Posted On 2017-08-16