Incidental Mutation 'R7786:Or51i2'
ID 599534
Institutional Source Beutler Lab
Gene Symbol Or51i2
Ensembl Gene ENSMUSG00000073932
Gene Name olfactory receptor family 51 subfamily I member 2
Synonyms Olfr641, MOR13-3, GA_x6K02T2PBJ9-6773690-6774628
MMRRC Submission 045842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7786 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103689005-103689943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103689930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 309 (R309H)
Ref Sequence ENSEMBL: ENSMUSP00000149866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098183] [ENSMUST00000138055] [ENSMUST00000213214]
AlphaFold Q8VGX6
Predicted Effect unknown
Transcript: ENSMUST00000098183
AA Change: R309H
SMART Domains Protein: ENSMUSP00000095785
Gene: ENSMUSG00000073932
AA Change: R309H

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 2.5e-118 PFAM
Pfam:7TM_GPCR_Srsx 35 307 7e-7 PFAM
Pfam:7tm_1 41 292 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000213214
AA Change: R309H
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (42/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 T C 18: 74,925,518 (GRCm39) S94P probably damaging Het
Adam18 C T 8: 25,101,134 (GRCm39) R676H probably benign Het
Akna A G 4: 63,313,199 (GRCm39) L308P probably benign Het
Ambra1 G C 2: 91,598,141 (GRCm39) V101L possibly damaging Het
Arnt A G 3: 95,392,267 (GRCm39) D377G probably damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cfap210 A T 2: 69,612,092 (GRCm39) W179R probably damaging Het
Cit C A 5: 116,001,077 (GRCm39) Q159K probably benign Het
Dnah1 A T 14: 30,984,478 (GRCm39) H3935Q probably damaging Het
Emc8 T C 8: 121,394,656 (GRCm39) Y21C probably damaging Het
Fcrla G T 1: 170,748,426 (GRCm39) P265Q possibly damaging Het
Gabbr1 A T 17: 37,380,955 (GRCm39) N766I probably damaging Het
Galnt14 T A 17: 74,016,976 (GRCm39) T27S probably benign Het
Garin2 T A 12: 78,766,403 (GRCm39) S391T probably benign Het
Gatad2b T C 3: 90,262,986 (GRCm39) I476T probably damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Gtf2ird1 C A 5: 134,419,753 (GRCm39) G71* probably null Het
Hdac11 T A 6: 91,150,158 (GRCm39) L319* probably null Het
Hsd11b2 T A 8: 106,245,506 (GRCm39) W4R probably damaging Het
Katnip A G 7: 125,464,466 (GRCm39) I1278V probably benign Het
Krt76 T A 15: 101,798,965 (GRCm39) E240V probably damaging Het
Man2b1 C T 8: 85,812,085 (GRCm39) Q180* probably null Het
Megf8 T C 7: 25,017,120 (GRCm39) probably null Het
Mlh3 T C 12: 85,313,511 (GRCm39) T892A probably benign Het
Mmp21 C T 7: 133,276,764 (GRCm39) S413N probably benign Het
Nav1 T C 1: 135,397,733 (GRCm39) D812G probably damaging Het
Nox4 T A 7: 86,945,050 (GRCm39) I71N probably damaging Het
Oplah T A 15: 76,193,916 (GRCm39) I14F possibly damaging Het
Or52p1 T A 7: 104,266,925 (GRCm39) I13N probably benign Het
Or5w16 A T 2: 87,576,645 (GRCm39) Y35F probably damaging Het
Pik3ap1 A G 19: 41,310,024 (GRCm39) M432T probably damaging Het
Plin3 G A 17: 56,586,757 (GRCm39) T430I probably benign Het
Poc5 C A 13: 96,541,027 (GRCm39) Q399K possibly damaging Het
Ptprz1 G A 6: 23,036,992 (GRCm39) G2013R probably damaging Het
Rgs7bp T C 13: 105,190,568 (GRCm39) D52G probably benign Het
Tenm2 A C 11: 35,901,276 (GRCm39) F2488V probably damaging Het
Tnfaip8 G C 18: 50,180,178 (GRCm39) A110P unknown Het
Tnfaip8 C T 18: 50,180,179 (GRCm39) A110V unknown Het
Top3a C T 11: 60,667,792 (GRCm39) A46T probably damaging Het
Try10 T A 6: 41,332,463 (GRCm39) S40T possibly damaging Het
Vav2 C A 2: 27,276,613 (GRCm39) L70F probably damaging Het
Xylt1 C A 7: 117,242,702 (GRCm39) probably null Het
Other mutations in Or51i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Or51i2 APN 7 103,689,051 (GRCm39) missense probably damaging 1.00
IGL01515:Or51i2 APN 7 103,689,183 (GRCm39) missense probably benign 0.03
IGL01940:Or51i2 APN 7 103,689,129 (GRCm39) missense probably damaging 1.00
IGL02209:Or51i2 APN 7 103,689,663 (GRCm39) missense probably damaging 1.00
IGL02486:Or51i2 APN 7 103,689,617 (GRCm39) missense probably damaging 1.00
R2075:Or51i2 UTSW 7 103,689,180 (GRCm39) missense probably damaging 0.97
R4110:Or51i2 UTSW 7 103,689,609 (GRCm39) missense probably damaging 1.00
R8133:Or51i2 UTSW 7 103,689,122 (GRCm39) missense probably benign 0.03
R9192:Or51i2 UTSW 7 103,689,875 (GRCm39) missense possibly damaging 0.94
R9195:Or51i2 UTSW 7 103,689,345 (GRCm39) missense probably damaging 0.99
R9328:Or51i2 UTSW 7 103,689,268 (GRCm39) missense
R9375:Or51i2 UTSW 7 103,689,273 (GRCm39) missense possibly damaging 0.64
R9396:Or51i2 UTSW 7 103,689,720 (GRCm39) missense probably benign 0.11
R9525:Or51i2 UTSW 7 103,689,820 (GRCm39) missense possibly damaging 0.86
R9622:Or51i2 UTSW 7 103,689,522 (GRCm39) missense probably damaging 1.00
Z1177:Or51i2 UTSW 7 103,688,934 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GTGCCAATGATAGGGGTCTCTAC -3'
(R):5'- TGATGTAGAGGTTACCTGAATGC -3'

Sequencing Primer
(F):5'- CCAATGATAGGGGTCTCTACAGTTC -3'
(R):5'- AGAGGTTACCTGAATGCCTTATTG -3'
Posted On 2019-11-26