Incidental Mutation 'R9684:Or51i1'
ID 728738
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R9684 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103670579-103671523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103671079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 149 (G149C)
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: G149C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081858
Gene: ENSMUSG00000066262
AA Change: G149C

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: G149C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,283,307 (GRCm39) D3243V probably damaging Het
Acot3 T C 12: 84,105,650 (GRCm39) L281P probably benign Het
Asb4 A C 6: 5,398,296 (GRCm39) H87P probably damaging Het
Ccnt1 A T 15: 98,446,566 (GRCm39) Y175N probably damaging Het
Cdh11 A G 8: 103,391,327 (GRCm39) V303A probably benign Het
Cdk19 T A 10: 40,351,594 (GRCm39) M297K probably damaging Het
Ces2c A C 8: 105,574,699 (GRCm39) D52A probably benign Het
Cox10 C T 11: 63,855,207 (GRCm39) R358H probably damaging Het
Cryzl1 A G 16: 91,487,634 (GRCm39) I302T probably benign Het
Def6 T C 17: 28,436,044 (GRCm39) Y68H probably damaging Het
Dolpp1 A G 2: 30,285,748 (GRCm39) I49V possibly damaging Het
Ehmt1 T C 2: 24,753,329 (GRCm39) D357G possibly damaging Het
Ermp1 G T 19: 29,594,106 (GRCm39) T688N probably benign Het
F830016B08Rik T C 18: 60,433,043 (GRCm39) I42T probably damaging Het
Gbp7 A G 3: 142,240,327 (GRCm39) E15G possibly damaging Het
Ghdc A G 11: 100,661,091 (GRCm39) S25P probably benign Het
Gm45861 A G 8: 28,014,601 (GRCm39) N613S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gzmf T A 14: 56,444,444 (GRCm39) D43V probably benign Het
Hdac10 C A 15: 89,011,402 (GRCm39) D172Y probably damaging Het
Krt32 T A 11: 99,977,308 (GRCm39) R197S probably damaging Het
Lama5 T C 2: 179,849,038 (GRCm39) D215G probably damaging Het
M1ap C A 6: 82,945,094 (GRCm39) H129Q probably benign Het
Mfsd3 A G 15: 76,587,183 (GRCm39) D312G probably benign Het
Muc5ac A G 7: 141,364,798 (GRCm39) D2628G probably benign Het
Myoz3 T C 18: 60,712,026 (GRCm39) D184G possibly damaging Het
Ncor2 A G 5: 125,102,139 (GRCm39) L1217P Het
Nepn T C 10: 52,276,801 (GRCm39) V179A probably benign Het
Niban1 T A 1: 151,593,538 (GRCm39) I741N possibly damaging Het
Npr2 T C 4: 43,632,491 (GRCm39) Y103H probably damaging Het
Oosp3 A T 19: 11,682,806 (GRCm39) K158M probably benign Het
Or56a3 A G 7: 104,735,589 (GRCm39) Y222C Het
Orc3 G A 4: 34,607,135 (GRCm39) T65I probably benign Het
Pcdhga7 T C 18: 37,848,667 (GRCm39) S225P probably damaging Het
Pcsk9 G T 4: 106,307,386 (GRCm39) L286I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnma1 T C 12: 84,193,941 (GRCm39) Y254C probably benign Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ralgapa1 T C 12: 55,659,485 (GRCm39) T2012A possibly damaging Het
Selp T A 1: 163,953,858 (GRCm39) W53R probably damaging Het
Slc10a7 T A 8: 79,456,304 (GRCm39) V302E possibly damaging Het
Slc25a32 T C 15: 38,969,339 (GRCm39) I65V probably benign Het
Spesp1 A G 9: 62,180,545 (GRCm39) F121S probably damaging Het
Syncrip T C 9: 88,361,671 (GRCm39) T110A probably benign Het
Tc2n T C 12: 101,660,818 (GRCm39) D138G probably benign Het
Tnfrsf9 C T 4: 151,018,865 (GRCm39) P179S probably benign Het
Ube2r2 A G 4: 41,183,329 (GRCm39) T117A probably benign Het
Ush2a A C 1: 188,132,078 (GRCm39) K767Q possibly damaging Het
Vdr A G 15: 97,767,285 (GRCm39) V161A probably benign Het
Vmn1r33 T C 6: 66,589,075 (GRCm39) T160A possibly damaging Het
Vmn1r63 A G 7: 5,805,913 (GRCm39) S240P probably benign Het
Vmp1 T C 11: 86,476,156 (GRCm39) N400S probably benign Het
Zfp599 G A 9: 22,160,824 (GRCm39) T447I 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
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
Predicted Primers PCR Primer
(F):5'- ACAGCTCTCAAGATCAGTGC -3'
(R):5'- CCGCCATGTTGATTTTGATGCC -3'

Sequencing Primer
(F):5'- AGCTCTCAAGATCAGTGCATAAG -3'
(R):5'- CCATGTTGATTTTGATGCCTGTCTG -3'
Posted On 2022-10-06