Incidental Mutation 'R5572:Or52d13'
ID 435735
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 043266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5572 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103109430-103113333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 103109905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 170 (L170R)
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: L165R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000041119
Gene: ENSMUSG00000042402
AA Change: L165R

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: L165R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000214347
AA Change: L170R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,765,108 (GRCm39) probably null Het
Abcd4 T C 12: 84,653,050 (GRCm39) D380G probably benign Het
Actr3b T A 5: 26,014,886 (GRCm39) D68E probably benign Het
Apol10a T C 15: 77,372,834 (GRCm39) S157P probably damaging Het
Arap3 A T 18: 38,124,119 (GRCm39) I327N probably damaging Het
Arnt G T 3: 95,382,015 (GRCm39) V198L possibly damaging Het
Baiap3 T A 17: 25,470,449 (GRCm39) D86V possibly damaging Het
Bcl9l G T 9: 44,412,095 (GRCm39) R27L possibly damaging Het
Bltp2 A T 11: 78,155,393 (GRCm39) D167V probably damaging Het
C1qc T C 4: 136,619,773 (GRCm39) Y34C probably benign Het
C1rb T C 6: 124,557,758 (GRCm39) S632P probably benign Het
C3 A G 17: 57,531,673 (GRCm39) S284P probably damaging Het
Cfap44 T G 16: 44,301,668 (GRCm39) V1802G possibly damaging Het
Cfhr1 A G 1: 139,484,165 (GRCm39) V117A possibly damaging Het
Clca3b T C 3: 144,533,070 (GRCm39) D654G probably damaging Het
Col17a1 A T 19: 47,639,168 (GRCm39) S1126T probably benign Het
Cts3 T A 13: 61,712,782 (GRCm39) I313F probably damaging Het
Egfl7 T C 2: 26,481,703 (GRCm39) V6A possibly damaging Het
Eif2s3y G A Y: 1,016,631 (GRCm39) D272N probably damaging Het
Foxp4 A G 17: 48,191,804 (GRCm39) V111A unknown Het
Hmcn2 A T 2: 31,304,537 (GRCm39) probably null Het
Hmcn2 G A 2: 31,304,538 (GRCm39) probably null Het
Igsf11 C T 16: 38,845,294 (GRCm39) R283C probably damaging Het
Il1a A G 2: 129,149,838 (GRCm39) Y21H possibly damaging Het
Il6ra A T 3: 89,778,589 (GRCm39) V420D probably damaging Het
Kdm5a T C 6: 120,389,336 (GRCm39) V921A possibly damaging Het
Kirrel3 G A 9: 34,912,244 (GRCm39) A196T probably damaging Het
Klra1 T A 6: 130,349,802 (GRCm39) D212V possibly damaging Het
N4bp2l2 G A 5: 150,585,755 (GRCm39) T75I probably benign Het
Niban1 T C 1: 151,584,941 (GRCm39) S513P probably benign Het
Nnmt A G 9: 48,503,447 (GRCm39) L193P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Ntm A G 9: 28,925,512 (GRCm39) I191T probably damaging Het
Or2ak5 A G 11: 58,611,055 (GRCm39) V273A probably benign Het
Or52h7 A T 7: 104,214,201 (GRCm39) T258S probably benign Het
Pam A C 1: 97,782,469 (GRCm39) probably benign Het
Pomk T A 8: 26,473,218 (GRCm39) H245L possibly damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rasip1 G T 7: 45,286,153 (GRCm39) R792L probably benign Het
Ret T C 6: 118,132,392 (GRCm39) Y1016C probably damaging Het
Rhbdd1 A T 1: 82,318,531 (GRCm39) N138I possibly damaging Het
Snx13 T G 12: 35,153,119 (GRCm39) V383G probably damaging Het
Syt3 A G 7: 44,040,142 (GRCm39) H125R probably benign Het
Tlr6 A T 5: 65,112,361 (GRCm39) L182Q probably damaging Het
Tlr9 T C 9: 106,102,836 (GRCm39) V709A possibly damaging Het
Tmprss6 T C 15: 78,326,622 (GRCm39) Y655C probably damaging Het
Ttn A T 2: 76,683,972 (GRCm39) probably benign Het
Ube3a T C 7: 58,938,525 (GRCm39) I761T probably damaging Het
Ube3b G A 5: 114,544,240 (GRCm39) D546N probably damaging Het
Ugt2b36 A G 5: 87,237,341 (GRCm39) V188A possibly damaging Het
Usp29 A G 7: 6,965,191 (GRCm39) I345V probably benign Het
Vmn2r78 A G 7: 86,564,720 (GRCm39) K55R probably benign Het
Wdsub1 A G 2: 59,693,051 (GRCm39) F288L possibly damaging Het
Zan C T 5: 137,392,693 (GRCm39) V4601M unknown Het
Zbtb8b T C 4: 129,322,334 (GRCm39) K376E probably damaging Het
Zfp619 A T 7: 39,184,663 (GRCm39) Y231F probably benign 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
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'- TTCAAGATTAGCCAGTAGGACAAGG -3'
(R):5'- TTGGAAGCCACATTCCCTGC -3'

Sequencing Primer
(F):5'- GAGATAAAGACAAAGTCCAGCCCTG -3'
(R):5'- TGCATGCCTGACACAGATG -3'
Posted On 2016-10-24