Incidental Mutation 'R0919:Or52d13'
ID 82779
Institutional Source Beutler Lab
Gene Symbol Or52d13
Ensembl Gene ENSMUSG00000081945
Gene Name olfactory receptor family 52 subfamily D member 13
Synonyms MOR33-3P, EG546989, Gm15121, Olfr607, GA_x6K02T2PBJ9-6182881-6181898
MMRRC Submission 039069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0919 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103109430-103113333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103110019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 132 (I132T)
Ref Sequence ENSEMBL: ENSMUSP00000154348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119283] [ENSMUST00000214347]
AlphaFold A0A2I3BR67
Predicted Effect probably damaging
Transcript: ENSMUST00000045546
AA Change: I127T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041119
Gene: ENSMUSG00000042402
AA Change: I127T

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:7tm_4 32 305 9.9e-102 PFAM
Pfam:7TM_GPCR_Srsx 36 304 3.7e-8 PFAM
Pfam:7tm_1 42 293 5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119283
AA Change: I127T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214347
AA Change: I132T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap418 A G 4: 10,882,462 (GRCm39) T124A probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Clcf1 T A 19: 4,272,252 (GRCm39) L103Q probably damaging Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Htr1a T C 13: 105,581,344 (GRCm39) Y195H probably damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kpna4 A T 3: 68,993,161 (GRCm39) probably benign Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Slc44a5 A G 3: 153,949,223 (GRCm39) Y232C probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
U2af2 C T 7: 5,072,433 (GRCm39) probably benign Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P probably damaging Het
Other mutations in Or52d13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Or52d13 APN 7 103,110,221 (GRCm39) missense possibly damaging 0.90
R2105:Or52d13 UTSW 7 103,109,480 (GRCm39) splice site probably null
R2332:Or52d13 UTSW 7 103,110,293 (GRCm39) missense probably damaging 1.00
R4656:Or52d13 UTSW 7 103,109,695 (GRCm39) missense probably benign 0.05
R4859:Or52d13 UTSW 7 103,110,243 (GRCm39) nonsense probably null
R5260:Or52d13 UTSW 7 103,109,822 (GRCm39) missense probably benign 0.03
R5277:Or52d13 UTSW 7 103,110,148 (GRCm39) missense probably damaging 0.96
R5572:Or52d13 UTSW 7 103,109,905 (GRCm39) missense probably benign 0.02
R5593:Or52d13 UTSW 7 103,109,592 (GRCm39) synonymous silent
R5788:Or52d13 UTSW 7 103,110,086 (GRCm39) missense possibly damaging 0.49
R9083:Or52d13 UTSW 7 103,109,896 (GRCm39) missense
Z1177:Or52d13 UTSW 7 103,109,673 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTTGGCAATGCCCATGTTCTCAC -3'
(R):5'- AGGAGCCTCCATGAACCCATGTATC -3'

Sequencing Primer
(F):5'- CCATGTTCTCACAGTATGTGTGATG -3'
(R):5'- GTTGGCATTCAATGATGTCCTC -3'
Posted On 2013-11-08