Incidental Mutation 'R4946:Or51i1'
ID 383413
Institutional Source Beutler Lab
Gene Symbol Or51i1
Ensembl Gene ENSMUSG00000066262
Gene Name olfactory receptor family 51 subfamily I member 1D
Synonyms GA_x6K02T2PBJ9-6756759-6755815, MOR13-4, Olfr640
MMRRC Submission 042543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4946 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103670579-103671523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103671219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 102 (Q102L)
Ref Sequence ENSEMBL: ENSMUSP00000151356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084799] [ENSMUST00000138055] [ENSMUST00000215653] [ENSMUST00000218535]
AlphaFold E9Q7P5
Predicted Effect probably damaging
Transcript: ENSMUST00000084799
AA Change: Q102L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081858
Gene: ENSMUSG00000066262
AA Change: Q102L

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.7e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 309 1.9e-8 PFAM
Pfam:7tm_1 43 294 2.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215653
Predicted Effect probably damaging
Transcript: ENSMUST00000218535
AA Change: Q102L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,977,300 (GRCm39) D98G probably damaging Het
Adgre1 G A 17: 57,750,918 (GRCm39) V531I probably benign Het
Aldoart2 A G 12: 55,612,801 (GRCm39) Q242R probably benign Het
Ank2 A T 3: 126,735,589 (GRCm39) probably benign Het
Ank3 C T 10: 69,733,947 (GRCm39) A737V probably damaging Het
Ankle2 A G 5: 110,401,704 (GRCm39) I789V probably benign Het
Ankrd13c T C 3: 157,711,410 (GRCm39) V510A probably damaging Het
Arid1b T A 17: 5,393,118 (GRCm39) M2216K probably damaging Het
Arrdc1 A G 2: 24,815,860 (GRCm39) V380A probably benign Het
B3galt1 C A 2: 67,948,913 (GRCm39) N209K possibly damaging Het
Cd300c2 A T 11: 114,887,731 (GRCm39) C224S probably benign Het
Cdk4 T C 10: 126,900,759 (GRCm39) probably null Het
Cdk5rap1 T C 2: 154,210,794 (GRCm39) T115A possibly damaging Het
Clvs1 A T 4: 9,281,831 (GRCm39) R92* probably null Het
Cnga1 A G 5: 72,762,107 (GRCm39) V469A probably damaging Het
Ctns A G 11: 73,087,479 (GRCm39) F16L probably benign Het
Dlg5 A T 14: 24,204,429 (GRCm39) C1299S probably damaging Het
Dnah3 T A 7: 119,530,783 (GRCm39) Y3690F probably damaging Het
Dnah5 A G 15: 28,326,703 (GRCm39) M1971V probably damaging Het
Dnah5 G A 15: 28,388,050 (GRCm39) V3170M probably damaging Het
Dpp8 T C 9: 64,963,200 (GRCm39) Y485H probably benign Het
Dsc2 T C 18: 20,183,214 (GRCm39) D68G probably damaging Het
Eeig2 A G 3: 108,887,544 (GRCm39) V240A probably benign Het
Elavl1 A T 8: 4,351,752 (GRCm39) D121E probably benign Het
Ermap A G 4: 119,040,505 (GRCm39) V311A probably damaging Het
Fbxw11 C T 11: 32,689,226 (GRCm39) R437C probably damaging Het
Gas2l3 T C 10: 89,249,634 (GRCm39) M495V probably benign Het
Hacd1 C T 2: 14,049,948 (GRCm39) probably null Het
Itgav A G 2: 83,619,327 (GRCm39) R596G probably benign Het
Kars1 T C 8: 112,728,352 (GRCm39) H215R possibly damaging Het
Kif26a G A 12: 112,144,228 (GRCm39) R1494H probably damaging Het
Klf12 G A 14: 100,260,393 (GRCm39) S112L possibly damaging Het
Krt77 T C 15: 101,777,998 (GRCm39) Y19C unknown Het
Lrrc4c A G 2: 97,460,834 (GRCm39) T487A probably benign Het
Lrrn1 A G 6: 107,545,851 (GRCm39) M550V probably benign Het
Lsr C A 7: 30,657,634 (GRCm39) R442L probably benign Het
Lysmd2 A C 9: 75,542,728 (GRCm39) T112P probably damaging Het
Mctp2 A T 7: 71,909,017 (GRCm39) S99T probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mill2 T A 7: 18,590,608 (GRCm39) probably null Het
Mpp3 T C 11: 101,895,848 (GRCm39) N476D probably benign Het
Mtmr6 C T 14: 60,517,638 (GRCm39) P83L possibly damaging Het
Myh3 T C 11: 66,984,364 (GRCm39) I1067T probably benign Het
Myh9 C A 15: 77,657,540 (GRCm39) Q1068H probably damaging Het
Narf T A 11: 121,141,179 (GRCm39) H304Q possibly damaging Het
Nfatc2ip G T 7: 125,995,784 (GRCm39) P35Q possibly damaging Het
Npas3 C A 12: 54,112,618 (GRCm39) P426Q probably damaging Het
Or10aa3 T G 1: 173,878,400 (GRCm39) S154A possibly damaging Het
Or4e1 G A 14: 52,700,740 (GRCm39) T242I probably damaging Het
Or4f4b T C 2: 111,314,311 (GRCm39) Y207H possibly damaging Het
Or5p5 A G 7: 107,414,589 (GRCm39) H266R possibly damaging Het
Pcdh10 A T 3: 45,333,917 (GRCm39) E77V probably damaging Het
Pcnt C T 10: 76,192,019 (GRCm39) R2764Q probably damaging Het
Pgbd5 T C 8: 125,097,324 (GRCm39) D493G possibly damaging Het
Piezo2 G T 18: 63,290,333 (GRCm39) T142N probably benign Het
Plcb1 A G 2: 135,187,015 (GRCm39) I761V probably benign Het
Plekhg4 T G 8: 106,108,628 (GRCm39) D1196E probably null Het
Pparg A G 6: 115,427,989 (GRCm39) K159E probably damaging Het
Psmb1 A T 17: 15,718,478 (GRCm39) M16K probably benign Het
Ptprq T C 10: 107,361,595 (GRCm39) I2139V probably benign Het
Ralgapb T A 2: 158,282,887 (GRCm39) S239T probably damaging Het
Serpina11 A G 12: 103,950,923 (GRCm39) V266A probably damaging Het
Sf3a2 C G 10: 80,639,947 (GRCm39) probably benign Het
Smim18 T C 8: 34,232,587 (GRCm39) T11A possibly damaging Het
Snx6 G A 12: 54,817,528 (GRCm39) T7I probably damaging Het
Srcin1 T A 11: 97,442,768 (GRCm39) D75V probably damaging Het
Srsf12 T A 4: 33,231,174 (GRCm39) S223T probably damaging Het
Taf4b G T 18: 14,946,599 (GRCm39) C474F probably damaging Het
Tango6 T A 8: 107,444,722 (GRCm39) C542* probably null Het
Tbc1d24 A G 17: 24,427,510 (GRCm39) S151P possibly damaging Het
Tssk6 T C 8: 70,355,714 (GRCm39) S253P probably benign Het
Ttc39c G A 18: 12,857,999 (GRCm39) W300* probably null Het
Ttc6 T A 12: 57,689,926 (GRCm39) W539R probably benign Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ttn C A 2: 76,749,053 (GRCm39) E3999* probably null Het
Vill T G 9: 118,897,508 (GRCm39) L261R probably damaging Het
Vmn1r20 T C 6: 57,409,159 (GRCm39) S162P probably damaging Het
Zfp516 T C 18: 82,974,219 (GRCm39) I139T probably benign Het
Other mutations in Or51i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02296:Or51i1 APN 7 103,671,311 (GRCm39) splice site probably null
IGL02552:Or51i1 APN 7 103,671,463 (GRCm39) missense probably damaging 1.00
IGL03084:Or51i1 APN 7 103,670,838 (GRCm39) missense probably benign
R0470:Or51i1 UTSW 7 103,670,877 (GRCm39) missense probably damaging 1.00
R0617:Or51i1 UTSW 7 103,671,196 (GRCm39) missense probably damaging 1.00
R1645:Or51i1 UTSW 7 103,671,210 (GRCm39) missense probably damaging 1.00
R5329:Or51i1 UTSW 7 103,671,204 (GRCm39) missense probably damaging 1.00
R5756:Or51i1 UTSW 7 103,670,889 (GRCm39) missense probably damaging 1.00
R5804:Or51i1 UTSW 7 103,671,439 (GRCm39) missense probably benign
R6157:Or51i1 UTSW 7 103,671,105 (GRCm39) missense possibly damaging 0.86
R7846:Or51i1 UTSW 7 103,670,736 (GRCm39) missense possibly damaging 0.94
R8977:Or51i1 UTSW 7 103,670,762 (GRCm39) nonsense probably null
R9505:Or51i1 UTSW 7 103,670,698 (GRCm39) missense probably damaging 0.98
R9684:Or51i1 UTSW 7 103,671,079 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGTGTAGCACATTGCCC -3'
(R):5'- AACCTCAGTATCCTTGCTCTGG -3'

Sequencing Primer
(F):5'- GGCAATCTTTTTACAAGAAAGGGG -3'
(R):5'- GCTCTGGTCATTCGGGAAC -3'
Posted On 2016-04-27