Incidental Mutation 'R5788:Or52d13'
ID 448147
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 043382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5788 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103109430-103113333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103110086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 110 (V110I)
Ref Sequence ENSEMBL: ENSMUSP00000154348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119283] [ENSMUST00000214347]
AlphaFold A0A2I3BR67
Predicted Effect probably benign
Transcript: ENSMUST00000045546
AA Change: V105I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041119
Gene: ENSMUSG00000042402
AA Change: V105I

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 benign
Transcript: ENSMUST00000119283
AA Change: V105I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214347
AA Change: V110I

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1458 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A G 7: 131,045,328 (GRCm39) Y420C probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Amfr T A 8: 94,726,942 (GRCm39) R90S probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp8a2 T A 14: 60,258,242 (GRCm39) D440V probably damaging Het
Bahcc1 A G 11: 120,177,178 (GRCm39) D2022G probably damaging Het
Bicd1 T C 6: 149,385,498 (GRCm39) F77S probably benign Het
Ccdc66 C T 14: 27,220,448 (GRCm39) R255H probably benign Het
Ckm A G 7: 19,153,372 (GRCm39) D152G probably benign Het
Cpsf7 T G 19: 10,518,082 (GRCm39) S431A possibly damaging Het
Csmd1 T C 8: 16,251,980 (GRCm39) T959A probably damaging Het
Dkk4 T C 8: 23,115,347 (GRCm39) C66R probably damaging Het
Espl1 T A 15: 102,232,465 (GRCm39) W2058R probably damaging Het
Evi5l A T 8: 4,256,800 (GRCm39) probably benign Het
Fancg A T 4: 43,007,130 (GRCm39) probably benign Het
Flg2 A T 3: 93,108,296 (GRCm39) H108L probably benign Het
Fzd2 A T 11: 102,496,293 (GRCm39) T246S probably benign Het
Gm10428 T G 11: 62,644,107 (GRCm39) probably benign Het
Gm1988 T A 7: 38,821,627 (GRCm39) noncoding transcript Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm7133 A T 1: 97,171,201 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,717,962 (GRCm39) N710S probably benign Het
Hcn2 T C 10: 79,552,945 (GRCm39) V148A possibly damaging Het
Hephl1 A G 9: 14,995,579 (GRCm39) L483S possibly damaging Het
Hinfp C T 9: 44,209,105 (GRCm39) E338K possibly damaging Het
Hsd17b4 G A 18: 50,306,776 (GRCm39) D494N probably damaging Het
Ipo4 C T 14: 55,866,277 (GRCm39) V801M probably benign Het
Kcns2 A C 15: 34,839,000 (GRCm39) Y121S probably benign Het
Kif1c T A 11: 70,599,654 (GRCm39) L462H probably damaging Het
Lrrk2 T G 15: 91,648,851 (GRCm39) V1615G possibly damaging Het
Naca G A 10: 127,876,011 (GRCm39) probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Ndufs2 A G 1: 171,066,954 (GRCm39) Y135H probably damaging Het
Nwd2 T C 5: 63,965,114 (GRCm39) V1566A probably benign Het
Or52n4b T C 7: 108,144,551 (GRCm39) I271T probably damaging Het
Or5t17 A G 2: 86,832,645 (GRCm39) T111A probably benign Het
Or6c75 A G 10: 129,336,779 (GRCm39) M1V probably null Het
Or6c75 A T 10: 129,336,763 (GRCm39) L3F probably benign Het
Pcid2 C T 8: 13,150,320 (GRCm39) probably null Het
Pld4 A C 12: 112,730,551 (GRCm39) I145L probably benign Het
Pogk A T 1: 166,236,580 (GRCm39) probably benign Het
Rhbg C T 3: 88,152,874 (GRCm39) V280I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rxfp3 A G 15: 11,036,250 (GRCm39) F374S possibly damaging Het
Son A G 16: 91,456,940 (GRCm39) probably benign Het
Specc1l G T 10: 75,112,755 (GRCm39) R994L probably damaging Het
Tas2r135 T A 6: 42,382,531 (GRCm39) D23E probably damaging Het
Teddm2 A T 1: 153,726,810 (GRCm39) H21Q probably benign Het
Tet1 T C 10: 62,675,737 (GRCm39) T780A possibly damaging Het
Thbs1 T A 2: 117,952,989 (GRCm39) D866E probably damaging Het
Tmed4 A G 11: 6,221,743 (GRCm39) W198R probably damaging Het
Ttn A T 2: 76,749,575 (GRCm39) C3825S probably benign Het
Uchl1 T A 5: 66,833,754 (GRCm39) probably benign Het
Wsb2 A G 5: 117,515,483 (GRCm39) T363A possibly damaging Het
Zfp266 A G 9: 20,417,332 (GRCm39) Y19H probably damaging Het
Zkscan17 A G 11: 59,378,086 (GRCm39) C366R probably damaging Het
Other mutations in Or52d13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Or52d13 APN 7 103,110,221 (GRCm39) missense possibly damaging 0.90
R0919:Or52d13 UTSW 7 103,110,019 (GRCm39) missense probably damaging 1.00
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
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'- TGCCCATGTTCTCACAGTATG -3'
(R):5'- AGTGGTCTATGACAGGAGCC -3'

Sequencing Primer
(F):5'- CTTCGGCAAAAGTCCAAGCGG -3'
(R):5'- TCTATGACAGGAGCCTCCATG -3'
Posted On 2016-12-15