Incidental Mutation 'R4110:Or51i2'
ID 317252
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 040988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4110 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103689005-103689943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103689609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 202 (V202A)
Ref Sequence ENSEMBL: ENSMUSP00000149866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098183] [ENSMUST00000138055] [ENSMUST00000213214]
AlphaFold Q8VGX6
Predicted Effect probably damaging
Transcript: ENSMUST00000098183
AA Change: V202A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095785
Gene: ENSMUSG00000073932
AA Change: V202A

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 probably damaging
Transcript: ENSMUST00000213214
AA Change: V202A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213904
Meta Mutation Damage Score 0.5207 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Als2cl T C 9: 110,713,115 (GRCm39) S2P probably benign Het
AW209491 T C 13: 14,812,158 (GRCm39) V337A probably damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
BC023105 A G 18: 60,575,356 (GRCm39) noncoding transcript Het
Blvra T C 2: 126,937,075 (GRCm39) V176A probably damaging Het
Casp2 G A 6: 42,244,828 (GRCm39) A76T probably damaging Het
Ccdc88c A G 12: 100,911,332 (GRCm39) L34P probably damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a2 T A 10: 76,442,003 (GRCm39) probably null Het
Cse1l T C 2: 166,783,970 (GRCm39) Y488H probably benign Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dnajb12 T A 10: 59,730,136 (GRCm39) S270R possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dscaml1 G A 9: 45,643,366 (GRCm39) A1262T probably benign Het
Dtwd2 A C 18: 49,831,373 (GRCm39) probably benign Het
Fadd C A 7: 144,134,488 (GRCm39) K132N possibly damaging Het
Fndc3c1 T C X: 105,487,897 (GRCm39) N462S probably benign Het
Fzd3 A G 14: 65,472,616 (GRCm39) V384A probably benign Het
Gm6370 T C 5: 146,430,702 (GRCm39) S296P probably benign Het
Gsdmc T A 15: 63,651,876 (GRCm39) H245L probably benign Het
H13 T C 2: 152,523,029 (GRCm39) I114T probably damaging Het
Hhipl2 A G 1: 183,204,920 (GRCm39) R78G probably benign Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Ldc1 A T 4: 130,112,967 (GRCm39) L143Q probably damaging Het
Man2c1 A G 9: 57,044,055 (GRCm39) N330S probably damaging Het
Muc19 T A 15: 91,781,816 (GRCm39) noncoding transcript Het
Myh14 T G 7: 44,277,974 (GRCm39) M1092L probably benign Het
Neb A G 2: 52,038,778 (GRCm39) I2899T probably benign Het
Neb T A 2: 52,134,137 (GRCm39) Q3282L probably damaging Het
Nqo2 A T 13: 34,163,620 (GRCm39) Q93L probably benign Het
Or13a18 T A 7: 140,190,178 (GRCm39) L33Q possibly damaging Het
Or13a18 C A 7: 140,190,177 (GRCm39) L33M probably benign Het
Or4a2 C A 2: 89,248,444 (GRCm39) L104F probably benign Het
Pcsk1 A G 13: 75,244,488 (GRCm39) N122S probably damaging Het
Pdzrn4 A G 15: 92,668,745 (GRCm39) I966V probably benign Het
Phldb1 G A 9: 44,627,128 (GRCm39) T439I possibly damaging Het
Pign A G 1: 105,481,540 (GRCm39) probably benign Het
Pkn1 A T 8: 84,417,828 (GRCm39) D120E probably benign Het
Ptpru A G 4: 131,546,348 (GRCm39) Y301H probably damaging Het
Raly C T 2: 154,699,378 (GRCm39) Q61* probably null Het
Rpl24 T C 16: 55,791,723 (GRCm39) V148A probably benign Het
S100a16 A G 3: 90,449,379 (GRCm39) N18S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc22a12 C A 19: 6,590,658 (GRCm39) R203L probably damaging Het
Ssbp3 C A 4: 106,904,393 (GRCm39) probably benign Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Tbr1 C T 2: 61,642,076 (GRCm39) P184L probably benign Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tnc A G 4: 63,933,188 (GRCm39) V692A probably damaging Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Topbp1 G T 9: 103,187,158 (GRCm39) R121L probably damaging Het
Unc79 T C 12: 103,025,629 (GRCm39) C339R probably damaging Het
Wdfy3 C T 5: 102,047,924 (GRCm39) probably null Het
Zbtb3 G C 19: 8,780,384 (GRCm39) probably benign Het
Zfp715 T A 7: 42,947,304 (GRCm39) K885N possibly damaging 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
R7786:Or51i2 UTSW 7 103,689,930 (GRCm39) missense unknown
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'- TGCCACTGTCCTCACCAATG -3'
(R):5'- CTTCCCAAAACGGTGAACTGTAG -3'

Sequencing Primer
(F):5'- GCCACTGTCCTCACCAATGAATTC -3'
(R):5'- GAACTGTAGAGACCCCTATCATTGG -3'
Posted On 2015-05-15