Incidental Mutation 'R2907:Or5d46'
ID 261680
Institutional Source Beutler Lab
Gene Symbol Or5d46
Ensembl Gene ENSMUSG00000050023
Gene Name olfactory receptor family 5 subfamily D member 46
Synonyms Olfr1176, MOR174-5, GA_x6K02T2Q125-49824309-49825256
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88169911-88170858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88170827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 306 (I306T)
Ref Sequence ENSEMBL: ENSMUSP00000149943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057439] [ENSMUST00000137895] [ENSMUST00000213778] [ENSMUST00000216713]
AlphaFold Q8VG40
Predicted Effect probably benign
Transcript: ENSMUST00000057439
AA Change: I306T

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: I306T

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:7tm_4 32 309 5.3e-46 PFAM
Pfam:7tm_1 42 291 4.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137895
Predicted Effect probably benign
Transcript: ENSMUST00000213778
AA Change: I306T

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000216713
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V probably benign Het
Other mutations in Or5d46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Or5d46 APN 2 88,170,771 (GRCm39) missense probably damaging 1.00
IGL02166:Or5d46 APN 2 88,170,022 (GRCm39) missense probably damaging 0.97
IGL02340:Or5d46 APN 2 88,169,906 (GRCm39) unclassified probably benign
IGL02598:Or5d46 APN 2 88,170,595 (GRCm39) missense possibly damaging 0.64
IGL03069:Or5d46 APN 2 88,170,643 (GRCm39) splice site probably null
IGL03212:Or5d46 APN 2 88,170,016 (GRCm39) missense probably damaging 1.00
R1959:Or5d46 UTSW 2 88,170,545 (GRCm39) missense probably damaging 1.00
R1960:Or5d46 UTSW 2 88,170,545 (GRCm39) missense probably damaging 1.00
R2908:Or5d46 UTSW 2 88,170,827 (GRCm39) missense probably benign 0.11
R4049:Or5d46 UTSW 2 88,174,144 (GRCm39) splice site probably null
R4257:Or5d46 UTSW 2 88,170,621 (GRCm39) missense probably damaging 1.00
R4823:Or5d46 UTSW 2 88,170,179 (GRCm39) missense probably damaging 0.96
R4897:Or5d46 UTSW 2 88,174,686 (GRCm39) missense possibly damaging 0.89
R5106:Or5d46 UTSW 2 88,170,454 (GRCm39) missense probably benign 0.07
R5192:Or5d46 UTSW 2 88,170,092 (GRCm39) missense possibly damaging 0.94
R5196:Or5d46 UTSW 2 88,170,092 (GRCm39) missense possibly damaging 0.94
R5331:Or5d46 UTSW 2 88,170,332 (GRCm39) missense probably damaging 1.00
R5579:Or5d46 UTSW 2 88,170,757 (GRCm39) missense possibly damaging 0.83
R6283:Or5d46 UTSW 2 88,170,002 (GRCm39) missense probably benign 0.33
R6702:Or5d46 UTSW 2 88,170,586 (GRCm39) missense probably benign 0.02
R8155:Or5d46 UTSW 2 88,170,296 (GRCm39) missense probably damaging 0.98
R8904:Or5d46 UTSW 2 88,169,949 (GRCm39) missense possibly damaging 0.82
R9094:Or5d46 UTSW 2 88,170,248 (GRCm39) missense probably benign 0.00
R9443:Or5d46 UTSW 2 88,170,364 (GRCm39) missense probably damaging 1.00
R9598:Or5d46 UTSW 2 88,170,821 (GRCm39) missense possibly damaging 0.88
R9719:Or5d46 UTSW 2 88,169,928 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AAAGCCTTGTCCACCTGTGC -3'
(R):5'- CTGTTTGCTGGAGGAAGAAAC -3'

Sequencing Primer
(F):5'- GTGCTCCACACCTGACTG -3'
(R):5'- GGGAATTATCACCCATGTGTACTC -3'
Posted On 2015-01-23