Incidental Mutation 'R6343:Or52p2'
ID 514006
Institutional Source Beutler Lab
Gene Symbol Or52p2
Ensembl Gene ENSMUSG00000073974
Gene Name olfactory receptor family 52 subfamily P member 2
Synonyms Olfr551, MOR29-1, GA_x6K02T2PBJ9-5307445-5306498
MMRRC Submission 044497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R6343 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102236948-102238026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102237753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 66 (C66R)
Ref Sequence ENSEMBL: ENSMUSP00000150582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098224] [ENSMUST00000213540]
AlphaFold Q8VG23
Predicted Effect probably damaging
Transcript: ENSMUST00000098224
AA Change: C66R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095827
Gene: ENSMUSG00000073974
AA Change: C66R

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 2.8e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 152 2e-9 PFAM
Pfam:7tm_1 43 293 1.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213540
AA Change: C66R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,378 (GRCm39) L301Q probably damaging Het
Adgrl4 T C 3: 151,223,443 (GRCm39) L632P probably damaging Het
Cacna2d1 T A 5: 16,527,562 (GRCm39) I539N probably benign Het
Camta1 T A 4: 151,164,306 (GRCm39) H314L probably damaging Het
Car2 T C 3: 14,953,025 (GRCm39) S56P probably damaging Het
Chrm5 G A 2: 112,309,793 (GRCm39) A441V probably damaging Het
Ckap5 T A 2: 91,426,819 (GRCm39) N1380K possibly damaging Het
Cspg4 T C 9: 56,799,976 (GRCm39) V1580A probably benign Het
Dcc A G 18: 71,469,106 (GRCm39) L1099P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha5 A T 5: 84,254,606 (GRCm39) H644Q probably damaging Het
Eya3 T C 4: 132,400,221 (GRCm39) I80T probably damaging Het
Fdft1 A T 14: 63,388,721 (GRCm39) Y304N probably damaging Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Gpatch2l T A 12: 86,307,379 (GRCm39) Y252* probably null Het
Hivep1 G T 13: 42,313,147 (GRCm39) G1796* probably null Het
Irf8 T C 8: 121,480,446 (GRCm39) V228A probably damaging Het
Islr A C 9: 58,064,379 (GRCm39) V376G probably damaging Het
Kdm5a T C 6: 120,359,894 (GRCm39) V230A probably benign Het
Lpgat1 A G 1: 191,508,684 (GRCm39) probably null Het
Lrp8 T C 4: 107,726,353 (GRCm39) probably null Het
Lyzl4 A C 9: 121,407,150 (GRCm39) S127A possibly damaging Het
Map4k1 T C 7: 28,699,715 (GRCm39) V606A possibly damaging Het
Mau2 T A 8: 70,484,173 (GRCm39) K138N probably damaging Het
Meikin T C 11: 54,261,592 (GRCm39) L33P probably damaging Het
Mrpl28 T C 17: 26,345,252 (GRCm39) V224A probably benign Het
Ncdn T C 4: 126,640,964 (GRCm39) D512G possibly damaging Het
Nlrp2 T A 7: 5,303,925 (GRCm39) Q200L possibly damaging Het
Nup98 T C 7: 101,843,957 (GRCm39) N89S possibly damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or14a258 T A 7: 86,035,059 (GRCm39) R270* probably null Het
Or5b12 G T 19: 12,896,946 (GRCm39) H242Q probably damaging Het
Or6c201 A T 10: 128,969,535 (GRCm39) L34* probably null Het
Padi3 C T 4: 140,530,819 (GRCm39) V68I possibly damaging Het
Pign A T 1: 105,512,820 (GRCm39) M621K probably benign Het
Pigv C T 4: 133,392,547 (GRCm39) V208M probably damaging Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rsf1 A G 7: 97,310,124 (GRCm39) K285E probably benign Het
Serpina3k G C 12: 104,311,562 (GRCm39) G380A probably benign Het
Sorbs1 A G 19: 40,365,426 (GRCm39) probably null Het
Srrd G C 5: 112,487,866 (GRCm39) A104G probably benign Het
Tbp T A 17: 15,721,351 (GRCm39) probably null Het
Tecrl G A 5: 83,442,447 (GRCm39) H209Y probably damaging Het
Tmprss11c A G 5: 86,404,204 (GRCm39) L157P probably damaging Het
Tmprss13 A T 9: 45,254,498 (GRCm39) T422S possibly damaging Het
Ttll5 A G 12: 86,003,473 (GRCm39) H1103R probably benign Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vldlr A G 19: 27,223,049 (GRCm39) Y699C probably damaging Het
Vmn1r22 T G 6: 57,877,563 (GRCm39) N138T possibly damaging Het
Other mutations in Or52p2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Or52p2 APN 7 102,237,436 (GRCm39) nonsense probably null
IGL03034:Or52p2 APN 7 102,237,147 (GRCm39) missense probably benign 0.42
IGL03076:Or52p2 APN 7 102,237,679 (GRCm39) missense probably benign
R0564:Or52p2 UTSW 7 102,237,738 (GRCm39) missense probably benign
R0890:Or52p2 UTSW 7 102,237,408 (GRCm39) nonsense probably null
R0909:Or52p2 UTSW 7 102,237,654 (GRCm39) missense probably damaging 1.00
R1053:Or52p2 UTSW 7 102,237,166 (GRCm39) nonsense probably null
R4708:Or52p2 UTSW 7 102,237,043 (GRCm39) missense probably benign 0.00
R4932:Or52p2 UTSW 7 102,237,623 (GRCm39) missense probably damaging 0.98
R6248:Or52p2 UTSW 7 102,237,237 (GRCm39) missense probably benign 0.00
R6389:Or52p2 UTSW 7 102,237,679 (GRCm39) missense probably benign
R6455:Or52p2 UTSW 7 102,237,878 (GRCm39) missense probably benign 0.00
R7305:Or52p2 UTSW 7 102,237,162 (GRCm39) missense possibly damaging 0.94
R7638:Or52p2 UTSW 7 102,237,125 (GRCm39) missense probably damaging 0.98
R7743:Or52p2 UTSW 7 102,237,638 (GRCm39) missense probably benign 0.32
R7792:Or52p2 UTSW 7 102,238,090 (GRCm39) start gained probably benign
R8855:Or52p2 UTSW 7 102,237,945 (GRCm39) missense probably benign
Z1177:Or52p2 UTSW 7 102,237,929 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- AGACTCTGAGGACAGCAATGAC -3'
(R):5'- AGAACCCAAGCTCCTTCCTG -3'

Sequencing Primer
(F):5'- CAATGACCCGTAGTGCAATGGTC -3'
(R):5'- CCTGCTCATGGGGATTCC -3'
Posted On 2018-04-27