Incidental Mutation 'IGL02486:Or51i2'
ID 295410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51i2
Ensembl Gene ENSMUSG00000073932
Gene Name olfactory receptor family 51 subfamily I member 2
Synonyms Olfr641, MOR13-3, GA_x6K02T2PBJ9-6773690-6774628
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL02486
Quality Score
Status
Chromosome 7
Chromosomal Location 103689005-103689943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103689617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 205 (S205P)
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: S205P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095785
Gene: ENSMUSG00000073932
AA Change: S205P

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: S205P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213904
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 111,424,955 (GRCm39) N147K probably benign Het
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gk T A X: 84,759,274 (GRCm39) I373F possibly damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Nox1 C T X: 132,993,560 (GRCm39) G433D probably damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or52m1 A T 7: 102,289,627 (GRCm39) H58L probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Syt15 G A 14: 33,944,933 (GRCm39) R160K probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnks T A 8: 35,318,352 (GRCm39) N841I probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably 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
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
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
Posted On 2015-04-16