Incidental Mutation 'R1645:Or51i1'
ID 173817
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 039681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R1645 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103670579-103671523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103671210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 105 (F105S)
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: F105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081858
Gene: ENSMUSG00000066262
AA Change: F105S

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: F105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,948,926 (GRCm39) M1732V probably benign Het
Acvr1 A T 2: 58,352,911 (GRCm39) C350S probably damaging Het
Adgrl2 A T 3: 148,571,244 (GRCm39) V130D probably damaging Het
Anapc1 A G 2: 128,500,166 (GRCm39) probably null Het
Asap1 A T 15: 63,961,324 (GRCm39) V1116E probably damaging Het
Bcas1 T A 2: 170,229,087 (GRCm39) D308V probably damaging Het
Brca1 G A 11: 101,400,879 (GRCm39) H1468Y probably benign Het
C2cd5 A G 6: 142,995,852 (GRCm39) C421R probably damaging Het
C4b A G 17: 34,959,571 (GRCm39) S363P probably damaging Het
Camk2b A T 11: 5,922,719 (GRCm39) C484S probably damaging Het
Cby2 C A 14: 75,821,089 (GRCm39) R212L probably benign Het
Ccny T C 18: 9,345,199 (GRCm39) T192A probably damaging Het
Chl1 G T 6: 103,660,141 (GRCm39) A356S probably benign Het
Dst T A 1: 34,264,803 (GRCm39) Y4850N probably damaging Het
Dyrk4 C A 6: 126,871,756 (GRCm39) E171* probably null Het
Entrep3 C A 3: 89,094,154 (GRCm39) D322E possibly damaging Het
Ephb1 A G 9: 101,804,758 (GRCm39) Y928H probably damaging Het
Fam114a2 A T 11: 57,390,621 (GRCm39) N304K probably benign Het
Fras1 A T 5: 96,848,445 (GRCm39) D1820V possibly damaging Het
Gabbr2 A T 4: 46,664,963 (GRCm39) probably null Het
Gm6358 T C 16: 88,937,967 (GRCm39) W69R unknown Het
Ikbkb C A 8: 23,181,082 (GRCm39) S127I probably damaging Het
Impa1 A T 3: 10,393,501 (GRCm39) M48K possibly damaging Het
Klra2 A T 6: 131,220,857 (GRCm39) probably null Het
Lama1 A T 17: 68,044,677 (GRCm39) Y192F probably benign Het
Lama2 T A 10: 27,244,981 (GRCm39) T267S probably damaging Het
Mroh7 G A 4: 106,577,865 (GRCm39) T271I probably benign Het
Myo9b A G 8: 71,775,622 (GRCm39) E348G probably damaging Het
Nrp2 C T 1: 62,824,283 (GRCm39) P796L probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or10al4 A T 17: 38,037,229 (GRCm39) T114S probably benign Het
Or9k7 T A 10: 130,046,081 (GRCm39) D306V probably damaging Het
P3h2 T A 16: 25,815,982 (GRCm39) H177L probably damaging Het
Pcdhb16 T C 18: 37,612,423 (GRCm39) I461T probably benign Het
Pdlim3 A G 8: 46,349,785 (GRCm39) I32V probably benign Het
Pigu A C 2: 155,170,598 (GRCm39) Y143* probably null Het
Prkd3 A C 17: 79,263,949 (GRCm39) probably null Het
Psrc1 C T 3: 108,292,554 (GRCm39) R116W probably damaging Het
Rab5b A G 10: 128,522,695 (GRCm39) S29P possibly damaging Het
Rbm26 A G 14: 105,388,253 (GRCm39) V403A probably damaging Het
Rbm47 G T 5: 66,184,481 (GRCm39) R41S probably benign Het
Rngtt A G 4: 33,362,939 (GRCm39) I364M probably damaging Het
Ryr2 A T 13: 11,733,368 (GRCm39) C2271* probably null Het
Shcbp1 T A 8: 4,799,645 (GRCm39) Q277L probably benign Het
Sntg1 T C 1: 8,874,155 (GRCm39) T5A probably benign Het
Snx24 T C 18: 53,522,634 (GRCm39) F163S probably benign Het
Srp72 T C 5: 77,146,125 (GRCm39) V581A probably benign Het
Srrt T A 5: 137,300,401 (GRCm39) K59* probably null Het
Tnrc6b A G 15: 80,767,159 (GRCm39) T975A probably damaging Het
Vmn1r174 G A 7: 23,453,777 (GRCm39) V148I possibly damaging Het
Vmn2r115 T A 17: 23,565,192 (GRCm39) C360S possibly damaging Het
Vwa8 A T 14: 79,420,427 (GRCm39) Q1709H probably damaging Het
Wdr11 A G 7: 129,215,613 (GRCm39) T526A probably benign Het
Zfp532 C A 18: 65,820,335 (GRCm39) N973K 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
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
R9684:Or51i1 UTSW 7 103,671,079 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGGATGTCTCCACATGCCAC -3'
(R):5'- TGGTCATTCGGGAACCTCCTCTAC -3'

Sequencing Primer
(F):5'- AATGGTGTAGCACATTGCCC -3'
(R):5'- CTACACCAACCCATGTACTATTTC -3'
Posted On 2014-04-24