Incidental Mutation 'R4874:Or2d3'
ID 376778
Institutional Source Beutler Lab
Gene Symbol Or2d3
Ensembl Gene ENSMUSG00000069390
Gene Name olfactory receptor family 2 subfamily D member 3
Synonyms Olfr707, MOR260-8P, GA_x6K02T2PBJ9-9276470-9275547
MMRRC Submission 042484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4874 (G1)
Quality Score 88
Status Validated
Chromosome 7
Chromosomal Location 106490391-106491314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106490642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 225 (V225I)
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 benign
Transcript: ENSMUST00000088687
AA Change: V225I

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086062
Gene: ENSMUSG00000069390
AA Change: V225I

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 benign
Transcript: ENSMUST00000208759
AA Change: V225I

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000209025
Predicted Effect probably benign
Transcript: ENSMUST00000210644
AA Change: V225I

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000213251
AA Change: V225I

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000213918
Predicted Effect probably benign
Transcript: ENSMUST00000214112
AA Change: V225I

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216085
Meta Mutation Damage Score 0.1072 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (51/54)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat G A 8: 60,969,147 (GRCm39) probably null Het
Adamtsl1 A G 4: 86,260,729 (GRCm39) N988S possibly damaging Het
Aph1b A T 9: 66,697,878 (GRCm39) probably null Het
B4galnt3 C A 6: 120,184,167 (GRCm39) R880L probably damaging Het
Bcam T C 7: 19,503,247 (GRCm39) probably benign Het
Cr2 A T 1: 194,858,878 (GRCm39) I14N possibly damaging Het
Dcdc5 T C 2: 106,198,451 (GRCm39) noncoding transcript Het
Dll1 A T 17: 15,590,501 (GRCm39) M405K probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ern2 T C 7: 121,775,810 (GRCm39) D428G probably benign Het
Esp36 A T 17: 38,727,987 (GRCm39) M98K unknown Het
Foxd2 G T 4: 114,764,768 (GRCm39) H417Q possibly damaging Het
Glrb T C 3: 80,758,349 (GRCm39) N304D possibly damaging Het
Haus3 A G 5: 34,324,972 (GRCm39) V229A probably benign Het
Hpgd A T 8: 56,770,838 (GRCm39) I159F possibly damaging Het
Ighv1-22 T A 12: 114,710,036 (GRCm39) I70F probably benign Het
Il16 A T 7: 83,310,153 (GRCm39) F584L possibly damaging Het
Lamc2 T C 1: 153,030,141 (GRCm39) D167G probably null Het
Megf10 G A 18: 57,426,930 (GRCm39) V1083I probably benign Het
Mertk T C 2: 128,592,079 (GRCm39) S268P probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mki67 T C 7: 135,310,500 (GRCm39) D132G probably damaging Het
Nbas A G 12: 13,371,756 (GRCm39) N419D probably damaging Het
Negr1 T C 3: 156,565,082 (GRCm39) L56S probably damaging Het
Nup214 A G 2: 31,870,596 (GRCm39) probably null Het
Opn5 C G 17: 42,891,610 (GRCm39) A276P probably damaging Het
Or10j5 A G 1: 172,785,166 (GRCm39) E268G probably benign Het
Or5t9 T A 2: 86,659,598 (GRCm39) H167Q probably damaging Het
Papln G T 12: 83,823,917 (GRCm39) V499L probably benign Het
Pgap1 A T 1: 54,569,296 (GRCm39) W357R probably damaging Het
Pibf1 T C 14: 99,377,992 (GRCm39) Y373H probably damaging Het
Pitpnm1 T C 19: 4,162,252 (GRCm39) probably null Het
Prcd T A 11: 116,550,597 (GRCm39) W3R probably null Het
Prkaa1 A G 15: 5,203,838 (GRCm39) N249S probably benign Het
Reg3b T A 6: 78,349,809 (GRCm39) N116K possibly damaging Het
Rpusd2 T C 2: 118,865,360 (GRCm39) L19P probably benign Het
Rufy1 T C 11: 50,297,277 (GRCm39) T392A possibly damaging Het
Sall3 T C 18: 81,017,188 (GRCm39) K247E probably benign Het
Shank1 C T 7: 43,965,497 (GRCm39) T191M unknown Het
Slit1 C T 19: 41,717,493 (GRCm39) probably null Het
Sorl1 A T 9: 41,975,048 (GRCm39) V520E probably damaging Het
Vmn2r115 T A 17: 23,578,825 (GRCm39) F766Y probably damaging Het
Wdr87-ps A G 7: 29,235,608 (GRCm39) noncoding transcript Het
Zfp644 A G 5: 106,783,279 (GRCm39) S1032P probably damaging Het
Other mutations in Or2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02718:Or2d3 APN 7 106,490,536 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTGTAAATGATGGGGTTCAGC -3'
(R):5'- GGATACCACATTCACATTACGTC -3'

Sequencing Primer
(F):5'- CATCGGGGTCACTGCTGAATAG -3'
(R):5'- ATTCACATTACGTCTTCCTTATCGAG -3'
Posted On 2016-03-17