Incidental Mutation 'R5804:Or51i1'
ID 448404
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 043211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R5804 (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 C at 103671439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 29 (I29V)
Ref Sequence ENSEMBL: ENSMUSP00000151356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084799] [ENSMUST00000138055] [ENSMUST00000215653] [ENSMUST00000218535]
AlphaFold E9Q7P5
Predicted Effect probably benign
Transcript: ENSMUST00000084799
AA Change: I29V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081858
Gene: ENSMUSG00000066262
AA Change: I29V

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 benign
Transcript: ENSMUST00000218535
AA Change: I29V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,396,100 (GRCm39) R19* probably null Het
Abcb9 A G 5: 124,218,118 (GRCm39) M406T probably benign Het
Ager A G 17: 34,817,157 (GRCm39) E32G probably damaging Het
Cdk10 T A 8: 123,955,579 (GRCm39) probably null Het
Cfap97d1 A G 11: 101,881,640 (GRCm39) N112S probably damaging Het
Ctsl A T 13: 64,514,302 (GRCm39) Y259N probably damaging Het
Ctu2 T C 8: 123,207,965 (GRCm39) probably null Het
Dse T A 10: 34,029,375 (GRCm39) I572F possibly damaging Het
Flt1 A T 5: 147,517,247 (GRCm39) probably null Het
Gatm T A 2: 122,433,083 (GRCm39) Y193F probably benign Het
Gpaa1 T C 15: 76,216,826 (GRCm39) F170S probably damaging Het
Grm3 A G 5: 9,620,155 (GRCm39) L363P probably benign Het
Heatr5b G A 17: 79,138,951 (GRCm39) P64S probably damaging Het
Hfm1 A G 5: 107,026,455 (GRCm39) probably null Het
Hivep2 A C 10: 14,009,519 (GRCm39) K1725N probably benign Het
Hmcn1 A T 1: 150,550,098 (GRCm39) C2695* probably null Het
Hmgcr G A 13: 96,802,695 (GRCm39) T68M probably damaging Het
Igsf21 A T 4: 139,755,385 (GRCm39) D423E possibly damaging Het
Jag1 T C 2: 136,930,124 (GRCm39) N751S probably benign Het
Klrc2 A T 6: 129,637,436 (GRCm39) N28K possibly damaging Het
Lrrc8c A T 5: 105,727,423 (GRCm39) D29V possibly damaging Het
Mtcl1 A C 17: 66,650,132 (GRCm39) S1329A probably benign Het
Nin C T 12: 70,092,375 (GRCm39) V645I possibly damaging Het
Or4c127 T C 2: 89,833,332 (GRCm39) I194T possibly damaging Het
Or8s2 T A 15: 98,276,215 (GRCm39) M259L probably benign Het
Or9g4 T A 2: 85,504,682 (GRCm39) D271V probably damaging Het
Pfpl A T 19: 12,407,027 (GRCm39) H426L probably benign Het
Poteg A G 8: 27,946,826 (GRCm39) D238G probably damaging Het
Psen1 T C 12: 83,778,474 (GRCm39) F386L probably damaging Het
Rassf9 A T 10: 102,380,905 (GRCm39) I96F probably damaging Het
Robo1 T C 16: 72,840,077 (GRCm39) probably null Het
Slc16a4 A T 3: 107,206,280 (GRCm39) M117L probably benign Het
Slc4a8 A G 15: 100,689,506 (GRCm39) N372S possibly damaging Het
Stmn4 G A 14: 66,593,748 (GRCm39) G47D probably benign Het
Tex26 A G 5: 149,386,612 (GRCm39) N137S possibly damaging Het
Ttn T A 2: 76,747,163 (GRCm39) I4629F probably benign Het
Ubash3a G A 17: 31,427,206 (GRCm39) probably null Het
Ube3d T C 9: 86,307,401 (GRCm39) I233V probably benign Het
Utrn T A 10: 12,297,369 (GRCm39) T680S probably damaging Het
Vps13d G A 4: 144,826,640 (GRCm39) T2846I probably benign Het
Zbtb22 TGGACCCGGGAC TGGACCCGGGACCCGGGAC 17: 34,137,593 (GRCm39) probably null Het
Zfp41 C T 15: 75,490,557 (GRCm39) P170S 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
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
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'- GCATCAAAATCAACATGGCGG -3'
(R):5'- CCCTGACATTTTGTGTTGGAGAC -3'

Sequencing Primer
(F):5'- TCAACATGGCGGTAATTGAAAC -3'
(R):5'- ACATTTTGTGTTGGAGACAGGACATC -3'
Posted On 2016-12-15