Incidental Mutation 'IGL02718:Or2d3'
ID 304849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2d3
Ensembl Gene ENSMUSG00000069390
Gene Name olfactory receptor family 2 subfamily D member 3
Synonyms Olfr707, MOR260-8P, GA_x6K02T2PBJ9-9276470-9275547
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02718
Quality Score
Status
Chromosome 7
Chromosomal Location 106490391-106491314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106490536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 260 (M260K)
Ref Sequence ENSEMBL: ENSMUSP00000150100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088687] [ENSMUST00000208759] [ENSMUST00000209025] [ENSMUST00000210644] [ENSMUST00000213251] [ENSMUST00000213918] [ENSMUST00000214112]
AlphaFold K7N662
Predicted Effect probably damaging
Transcript: ENSMUST00000088687
AA Change: M260K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086062
Gene: ENSMUSG00000069390
AA Change: M260K

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-58 PFAM
Pfam:7TM_GPCR_Srsx 35 303 9.1e-9 PFAM
Pfam:7tm_1 41 290 1.4e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208759
AA Change: M260K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000209025
Predicted Effect probably damaging
Transcript: ENSMUST00000210644
AA Change: M260K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213251
AA Change: M260K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000213918
Predicted Effect probably damaging
Transcript: ENSMUST00000214112
AA Change: M260K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216085
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,399,329 (GRCm39) D41G probably damaging Het
2210408I21Rik T A 13: 77,322,991 (GRCm39) Y7N probably damaging Het
Atf1 C A 15: 100,152,100 (GRCm39) Q151K probably damaging Het
Brdt T C 5: 107,497,934 (GRCm39) probably benign Het
Cep295 T C 9: 15,237,049 (GRCm39) probably null Het
Ctnnd2 A G 15: 31,027,762 (GRCm39) S1229G probably damaging Het
Dcaf15 T A 8: 84,825,005 (GRCm39) I476L possibly damaging Het
Dlec1 A G 9: 118,966,354 (GRCm39) I1108V probably benign Het
Dnah9 T A 11: 65,777,466 (GRCm39) H3694L probably damaging Het
Dock10 A T 1: 80,501,535 (GRCm39) D1838E probably benign Het
Dusp12 A T 1: 170,708,226 (GRCm39) Y164N probably damaging Het
Ephx1 A G 1: 180,827,351 (GRCm39) F101L probably damaging Het
Fbn1 C A 2: 125,211,806 (GRCm39) C864F probably damaging Het
Fbxw24 T C 9: 109,453,858 (GRCm39) E96G possibly damaging Het
Glt1d1 C A 5: 127,727,763 (GRCm39) F78L probably damaging Het
Gm9602 A T 14: 15,932,620 (GRCm39) R21* probably null Het
Grip1 T A 10: 119,911,420 (GRCm39) *713K probably null Het
Hecw1 T C 13: 14,481,520 (GRCm39) probably null Het
Il31ra G A 13: 112,666,903 (GRCm39) R392* probably null Het
L3hypdh T G 12: 72,131,630 (GRCm39) S101R probably damaging Het
Lpar5 T A 6: 125,059,207 (GRCm39) D309E probably damaging Het
Masp1 T C 16: 23,295,043 (GRCm39) Y406C probably damaging Het
Mpdz T C 4: 81,303,439 (GRCm39) I166M probably damaging Het
Nbea A T 3: 55,539,483 (GRCm39) Y2759* probably null Het
Ncf1 A T 5: 134,256,302 (GRCm39) probably null Het
Nek5 T G 8: 22,587,479 (GRCm39) R314S probably benign Het
Nifk A C 1: 118,255,362 (GRCm39) N38T probably damaging Het
Obscn C T 11: 58,968,684 (GRCm39) V2772M probably damaging Het
Or10g9 A T 9: 39,912,182 (GRCm39) Y114N probably damaging Het
Or10z1 G T 1: 174,078,273 (GRCm39) Y73* probably null Het
Or2b28 T C 13: 21,531,554 (GRCm39) L152P probably damaging Het
Or52r1c C A 7: 102,734,790 (GRCm39) L22I probably benign Het
Or5k17 T C 16: 58,746,459 (GRCm39) I158M possibly damaging Het
Pbxip1 A G 3: 89,355,311 (GRCm39) E610G probably damaging Het
Pfas G T 11: 68,890,971 (GRCm39) probably benign Het
Plk4 T C 3: 40,769,456 (GRCm39) S102P probably damaging Het
Ptprz1 C T 6: 23,001,348 (GRCm39) T1146I possibly damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Ric1 T A 19: 29,510,640 (GRCm39) W74R probably damaging Het
Riok3 C A 18: 12,286,053 (GRCm39) S427* probably null Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Sfmbt2 A G 2: 10,406,842 (GRCm39) D47G possibly damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Snai3 C A 8: 123,182,861 (GRCm39) probably null Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Soat1 A T 1: 156,268,999 (GRCm39) S151T probably benign Het
Spmip4 G T 6: 50,561,367 (GRCm39) T184K probably damaging Het
Stbd1 A G 5: 92,751,077 (GRCm39) E37G possibly damaging Het
Syt10 A G 15: 89,698,282 (GRCm39) I354T probably damaging Het
Trip11 A C 12: 101,852,284 (GRCm39) S593R probably benign Het
Ubr1 T C 2: 120,745,364 (GRCm39) E908G probably damaging Het
Yy1 T C 12: 108,781,405 (GRCm39) F357L probably damaging Het
Other mutations in Or2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1539:Or2d3 UTSW 7 106,490,483 (GRCm39) missense probably damaging 1.00
R1768:Or2d3 UTSW 7 106,491,185 (GRCm39) missense probably damaging 0.97
R1768:Or2d3 UTSW 7 106,491,184 (GRCm39) splice site probably null
R4367:Or2d3 UTSW 7 106,490,567 (GRCm39) small deletion probably benign
R4542:Or2d3 UTSW 7 106,490,567 (GRCm39) small deletion probably benign
R4874:Or2d3 UTSW 7 106,490,642 (GRCm39) missense probably benign 0.28
R6164:Or2d3 UTSW 7 106,491,135 (GRCm39) nonsense probably null
R8124:Or2d3 UTSW 7 106,491,088 (GRCm39) missense possibly damaging 0.91
R8883:Or2d3 UTSW 7 106,490,536 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16