Incidental Mutation 'R1599:Or52d3'
ID 176032
Institutional Source Beutler Lab
Gene Symbol Or52d3
Ensembl Gene ENSMUSG00000073926
Gene Name olfactory receptor family 52 subfamily D member 3
Synonyms GA_x6K02T2PBJ9-7206970-7207923, Olfr653, MOR33-1
MMRRC Submission 039636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1599 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104228831-104229876 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 104228855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000149192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098174] [ENSMUST00000215585] [ENSMUST00000217466]
AlphaFold E9PVA0
Predicted Effect probably null
Transcript: ENSMUST00000098174
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: M1V

DomainStartEndE-ValueType
Pfam:7tm_4 37 316 2.2e-111 PFAM
Pfam:7TM_GPCR_Srsx 41 179 4.6e-10 PFAM
Pfam:7tm_1 47 298 5.9e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000215585
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably null
Transcript: ENSMUST00000217466
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,197,033 (GRCm39) E202G probably damaging Het
Adam23 A G 1: 63,610,092 (GRCm39) D698G possibly damaging Het
Adam3 T C 8: 25,215,377 (GRCm39) D20G possibly damaging Het
Adamts12 T C 15: 11,071,797 (GRCm39) S114P probably damaging Het
Adgrg6 T A 10: 14,343,057 (GRCm39) R297* probably null Het
Ahdc1 A T 4: 132,792,247 (GRCm39) S1163C possibly damaging Het
Axl A G 7: 25,463,394 (GRCm39) Y619H probably damaging Het
Bcl11a G T 11: 24,113,887 (GRCm39) C410F probably damaging Het
Brca2 C A 5: 150,472,178 (GRCm39) S2359* probably null Het
Calca A G 7: 114,233,707 (GRCm39) S75P probably damaging Het
Ccn2 A T 10: 24,473,297 (GRCm39) R279W probably benign Het
Ccpg1 T A 9: 72,906,407 (GRCm39) Y54* probably null Het
Cfap161 A T 7: 83,425,287 (GRCm39) M268K possibly damaging Het
Cfap61 T A 2: 145,854,083 (GRCm39) V365E probably benign Het
Cgnl1 T C 9: 71,548,709 (GRCm39) I1000V probably benign Het
Chd2 A T 7: 73,122,799 (GRCm39) D978E probably benign Het
Cyth1 G A 11: 118,068,047 (GRCm39) T297M probably damaging Het
Dennd1b T G 1: 139,095,468 (GRCm39) D505E probably benign Het
Dgkd A G 1: 87,809,608 (GRCm39) T99A possibly damaging Het
Fam161a A T 11: 22,971,093 (GRCm39) M180L probably benign Het
Gar1 G T 3: 129,624,253 (GRCm39) R80S probably benign Het
Gm28042 T C 2: 119,866,944 (GRCm39) S419P probably benign Het
Gm5591 A C 7: 38,219,794 (GRCm39) C360G probably benign Het
Golga2 A G 2: 32,193,185 (GRCm39) H427R probably benign Het
Gpt2 A G 8: 86,238,863 (GRCm39) Y232C probably damaging Het
Hnrnpll T A 17: 80,361,054 (GRCm39) H118L unknown Het
Ice2 T A 9: 69,318,724 (GRCm39) C303S probably null Het
Ikzf3 C A 11: 98,357,919 (GRCm39) G473C probably damaging Het
Kansl3 A T 1: 36,406,951 (GRCm39) D38E probably damaging Het
Kcna6 A T 6: 126,716,282 (GRCm39) D202E probably benign Het
Klhl21 G A 4: 152,096,757 (GRCm39) G341D probably damaging Het
Klhl29 A T 12: 5,143,538 (GRCm39) V497D probably damaging Het
Kmt2b G A 7: 30,270,000 (GRCm39) L2449F probably damaging Het
Kmt5c A G 7: 4,744,899 (GRCm39) E10G probably damaging Het
Lama3 C T 18: 12,583,457 (GRCm39) Q682* probably null Het
Lamb3 T C 1: 193,002,801 (GRCm39) V82A probably damaging Het
Larp4b C T 13: 9,172,186 (GRCm39) T2I probably damaging Het
Man2a1 T C 17: 64,986,826 (GRCm39) Y613H possibly damaging Het
Mcm3 G A 1: 20,890,422 (GRCm39) T4I probably benign Het
Mki67 C T 7: 135,301,663 (GRCm39) A1124T probably benign Het
Mlh3 A T 12: 85,315,143 (GRCm39) L348I probably damaging Het
Mmrn1 G A 6: 60,922,021 (GRCm39) M159I probably benign Het
Muc5ac A T 7: 141,352,640 (GRCm39) Q709L possibly damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nosip A G 7: 44,723,430 (GRCm39) N32S probably benign Het
Npat T C 9: 53,473,704 (GRCm39) Y499H possibly damaging Het
Nt5c1b T A 12: 10,440,024 (GRCm39) I522N probably damaging Het
Or1j18 G T 2: 36,625,001 (GRCm39) V223F probably benign Het
Or2r3 T A 6: 42,448,176 (GRCm39) K312M probably damaging Het
Or7g32 T A 9: 19,389,517 (GRCm39) T7S probably damaging Het
Pappa2 A G 1: 158,684,742 (GRCm39) F799S probably damaging Het
Pate5 T C 9: 35,750,333 (GRCm39) N113S probably benign Het
Pcdha1 C T 18: 37,318,290 (GRCm39) T941M probably damaging Het
Pilrb2 A T 5: 137,866,859 (GRCm39) F215I possibly damaging Het
Pkd1l3 G T 8: 110,363,016 (GRCm39) M1092I probably benign Het
Ppp1r21 G T 17: 88,880,055 (GRCm39) V491L probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prr27 G T 5: 87,991,084 (GRCm39) R232L probably benign Het
Rab3gap2 C T 1: 184,983,223 (GRCm39) T454I probably benign Het
Rgs11 C A 17: 26,427,223 (GRCm39) H385N probably damaging Het
S1pr5 T A 9: 21,155,230 (GRCm39) T399S probably benign Het
Sacs G A 14: 61,441,087 (GRCm39) M1044I probably benign Het
Sec31b T A 19: 44,511,592 (GRCm39) Q603L possibly damaging Het
Setx G A 2: 29,030,385 (GRCm39) E275K probably benign Het
Sh3tc1 G A 5: 35,864,856 (GRCm39) P444S probably benign Het
Shoc1 A T 4: 59,072,349 (GRCm39) N622K possibly damaging Het
Strn3 T A 12: 51,699,549 (GRCm39) N208Y possibly damaging Het
Tmem87a T C 2: 120,224,868 (GRCm39) N131S probably damaging Het
Tmprss13 T A 9: 45,249,616 (GRCm39) W318R probably damaging Het
Trabd2b T C 4: 114,266,178 (GRCm39) V64A probably damaging Het
Trafd1 A T 5: 121,517,720 (GRCm39) N24K probably damaging Het
Ttc41 T C 10: 86,612,437 (GRCm39) S1237P probably benign Het
Ttll1 A G 15: 83,381,555 (GRCm39) V238A probably benign Het
Vps50 T C 6: 3,565,537 (GRCm39) S492P probably benign Het
Zic1 T C 9: 91,243,741 (GRCm39) I409V probably benign Het
Other mutations in Or52d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Or52d3 APN 7 104,229,150 (GRCm39) missense probably damaging 1.00
I2288:Or52d3 UTSW 7 104,229,593 (GRCm39) missense probably damaging 1.00
PIT4131001:Or52d3 UTSW 7 104,229,237 (GRCm39) missense probably damaging 0.99
R0325:Or52d3 UTSW 7 104,229,567 (GRCm39) missense probably damaging 1.00
R1579:Or52d3 UTSW 7 104,229,268 (GRCm39) nonsense probably null
R1956:Or52d3 UTSW 7 104,229,116 (GRCm39) missense probably damaging 1.00
R2134:Or52d3 UTSW 7 104,228,848 (GRCm39) start gained probably benign
R2418:Or52d3 UTSW 7 104,229,141 (GRCm39) missense probably benign 0.00
R2483:Or52d3 UTSW 7 104,229,149 (GRCm39) missense probably damaging 1.00
R3623:Or52d3 UTSW 7 104,229,149 (GRCm39) missense probably damaging 1.00
R4049:Or52d3 UTSW 7 104,229,575 (GRCm39) missense probably benign
R4755:Or52d3 UTSW 7 104,229,268 (GRCm39) nonsense probably null
R4757:Or52d3 UTSW 7 104,229,404 (GRCm39) missense possibly damaging 0.95
R4828:Or52d3 UTSW 7 104,229,180 (GRCm39) missense possibly damaging 0.62
R4842:Or52d3 UTSW 7 104,229,422 (GRCm39) missense probably benign 0.45
R5496:Or52d3 UTSW 7 104,229,701 (GRCm39) missense probably damaging 1.00
R6830:Or52d3 UTSW 7 104,229,447 (GRCm39) missense probably damaging 1.00
R7320:Or52d3 UTSW 7 104,229,645 (GRCm39) nonsense probably null
R7590:Or52d3 UTSW 7 104,229,149 (GRCm39) missense probably damaging 1.00
R7968:Or52d3 UTSW 7 104,229,595 (GRCm39) nonsense probably null
R8491:Or52d3 UTSW 7 104,229,242 (GRCm39) missense probably damaging 0.99
R9306:Or52d3 UTSW 7 104,229,128 (GRCm39) missense probably damaging 1.00
R9521:Or52d3 UTSW 7 104,228,855 (GRCm39) start codon destroyed probably null
R9557:Or52d3 UTSW 7 104,229,768 (GRCm39) missense probably damaging 1.00
R9682:Or52d3 UTSW 7 104,229,434 (GRCm39) missense probably damaging 1.00
RF020:Or52d3 UTSW 7 104,229,497 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTGGAAGTCAAGCTGCCTGAAAG -3'
(R):5'- TACATTGGCTCATGGAGAGCCCTG -3'

Sequencing Primer
(F):5'- AAGCTGCCTGAAAGATGTTTG -3'
(R):5'- CCAAACATGCTGATCCTGCATC -3'
Posted On 2014-04-24