Incidental Mutation 'R5329:Or51i1'
ID 422218
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 042911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R5329 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103670579-103671523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103671204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 107 (H107R)
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: H107R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081858
Gene: ENSMUSG00000066262
AA Change: H107R

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: H107R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.7063 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (61/62)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik G A 4: 154,044,284 (GRCm39) V32I probably benign Het
Abcg4 A T 9: 44,190,842 (GRCm39) M19K probably benign Het
Acsm1 A G 7: 119,255,274 (GRCm39) T392A probably benign Het
Adam19 A T 11: 46,015,853 (GRCm39) I338F probably damaging Het
Adamdec1 C T 14: 68,807,612 (GRCm39) M349I probably damaging Het
Arhgef11 T A 3: 87,587,059 (GRCm39) probably benign Het
Bptf T C 11: 106,964,121 (GRCm39) D1628G probably benign Het
Camk2d C T 3: 126,391,131 (GRCm39) Q15* probably null Het
Camk2g T G 14: 20,843,999 (GRCm39) D12A possibly damaging Het
Cemip2 T C 19: 21,775,693 (GRCm39) I312T probably benign Het
Cgn T C 3: 94,687,300 (GRCm39) M1V probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Dcbld1 C A 10: 52,160,353 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Efcab3 T G 11: 104,644,632 (GRCm39) probably null Het
Espl1 T A 15: 102,220,953 (GRCm39) L903Q probably damaging Het
Gm5117 T A 8: 32,227,910 (GRCm39) noncoding transcript Het
Gm5150 T C 3: 16,017,588 (GRCm39) T228A probably benign Het
Gm5435 A T 12: 82,543,250 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,825,810 (GRCm39) C676S probably benign Het
Gstt3 C T 10: 75,610,685 (GRCm39) E230K possibly damaging Het
Jarid2 A G 13: 45,059,747 (GRCm39) I660V possibly damaging Het
Kif13a A G 13: 46,928,877 (GRCm39) probably null Het
Kntc1 T A 5: 123,902,254 (GRCm39) V299D probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipk T A 19: 33,997,613 (GRCm39) probably null Het
Loxhd1 T C 18: 77,420,378 (GRCm39) L334P probably damaging Het
Macc1 T A 12: 119,410,212 (GRCm39) Y327N probably damaging Het
Man2a2 G A 7: 80,010,876 (GRCm39) S705L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Ncam2 A T 16: 81,231,707 (GRCm39) Q57L probably damaging Het
Nedd1 T C 10: 92,522,102 (GRCm39) E645G probably damaging Het
Nfatc1 A T 18: 80,751,332 (GRCm39) M1K probably null Het
Nlrp9b A T 7: 19,757,916 (GRCm39) R384S probably damaging Het
Nrxn3 A G 12: 89,780,354 (GRCm39) H62R possibly damaging Het
Or2h2b-ps1 T A 17: 37,480,891 (GRCm39) Y216F probably damaging Het
Or4c125 T A 2: 89,169,803 (GRCm39) Y281F probably damaging Het
Or8b39 A T 9: 37,996,422 (GRCm39) M97L probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pdzph1 T A 17: 59,281,875 (GRCm39) I136F probably damaging Het
Pigg T C 5: 108,462,026 (GRCm39) I119T probably damaging Het
R3hdm2 A G 10: 127,294,762 (GRCm39) H215R probably damaging Het
Septin14 C T 5: 129,762,978 (GRCm39) probably null Het
Slc9a3 T C 13: 74,299,079 (GRCm39) M166T possibly damaging Het
Spock3 A G 8: 63,798,816 (GRCm39) D279G probably damaging Het
Suco T C 1: 161,660,999 (GRCm39) I967V probably damaging Het
Tgtp1 A G 11: 48,878,003 (GRCm39) L234P probably damaging Het
Tmem176a A G 6: 48,819,151 (GRCm39) D4G probably benign Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Uox A G 3: 146,330,300 (GRCm39) D152G probably damaging Het
Vmn1r35 C T 6: 66,656,490 (GRCm39) W60* probably null Het
Vmn2r103 T C 17: 20,032,433 (GRCm39) C736R probably damaging 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
R4946:Or51i1 UTSW 7 103,671,219 (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'- TGGTGTAGCACATTGCCCTTG -3'
(R):5'- GGCAACCTCAGTATCCTTGC -3'

Sequencing Primer
(F):5'- GGCAATCTTTTTACAAGAAAGGGG -3'
(R):5'- GCTCTGGTCATTCGGGAAC -3'
Posted On 2016-08-04