Incidental Mutation 'R5728:Or52n2'
ID 452607
Institutional Source Beutler Lab
Gene Symbol Or52n2
Ensembl Gene ENSMUSG00000063582
Gene Name olfactory receptor family 52 subfamily N member 2
Synonyms Olfr666, MOR34-1, GA_x6K02T2PBJ9-7522449-7521493
MMRRC Submission 043345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5728 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104541877-104542833 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104542436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 133 (R133Q)
Ref Sequence ENSEMBL: ENSMUSP00000148919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081116] [ENSMUST00000214757]
AlphaFold Q8VH00
Predicted Effect possibly damaging
Transcript: ENSMUST00000081116
AA Change: R133Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079893
Gene: ENSMUSG00000063582
AA Change: R133Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 2.7e-104 PFAM
Pfam:7TM_GPCR_Srsx 37 209 4.1e-11 PFAM
Pfam:7tm_1 43 295 1.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214757
AA Change: R133Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik T A 2: 103,953,213 (GRCm39) M13K possibly damaging Het
Abca13 T A 11: 9,520,576 (GRCm39) V4493D probably damaging Het
Ank1 A G 8: 23,612,783 (GRCm39) probably null Het
B4galnt4 A G 7: 140,650,488 (GRCm39) D785G probably benign Het
Chtop C T 3: 90,407,399 (GRCm39) G187D probably damaging Het
Cnih1 A G 14: 47,017,648 (GRCm39) F78S probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcun1d4 T C 5: 73,677,491 (GRCm39) F57L possibly damaging Het
Dgkz A G 2: 91,776,132 (GRCm39) S44P possibly damaging Het
Dhps A G 8: 85,799,964 (GRCm39) D138G probably damaging Het
Elp2 A G 18: 24,750,509 (GRCm39) E282G probably damaging Het
Exoc6b T C 6: 84,837,173 (GRCm39) Y342C probably damaging Het
Fasn A C 11: 120,704,339 (GRCm39) S1386A probably benign Het
Foxj3 A T 4: 119,430,959 (GRCm39) N111Y probably damaging Het
Gm5431 T C 11: 48,779,440 (GRCm39) E772G probably damaging Het
Gpbar1 A G 1: 74,318,216 (GRCm39) N153S probably damaging Het
Hspg2 T C 4: 137,270,077 (GRCm39) I2345T possibly damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Lce1f A G 3: 92,626,652 (GRCm39) S2P unknown Het
Lrrk2 A G 15: 91,659,177 (GRCm39) D1863G probably benign Het
Lurap1 T C 4: 116,001,585 (GRCm39) E36G possibly damaging Het
Lysmd3 A G 13: 81,817,380 (GRCm39) E119G probably damaging Het
Map9 G A 3: 82,270,642 (GRCm39) V69I probably benign Het
Mfsd4b2 A C 10: 39,799,791 (GRCm39) F37C possibly damaging Het
Moxd1 A T 10: 24,099,581 (GRCm39) H27L possibly damaging Het
Myo15a A T 11: 60,379,722 (GRCm39) K1476N probably damaging Het
Mzf1 A G 7: 12,777,985 (GRCm39) I552T probably benign Het
Nfatc2 A G 2: 168,322,169 (GRCm39) V910A probably benign Het
Prss2 T C 6: 41,500,851 (GRCm39) V88A probably benign Het
Rhbdf1 A G 11: 32,159,901 (GRCm39) probably null Het
Slc10a4 A T 5: 73,169,677 (GRCm39) Q434L probably damaging Het
Slc4a3 A G 1: 75,526,484 (GRCm39) T2A probably benign Het
Sqor A G 2: 122,651,320 (GRCm39) *194W probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tagap1 A G 17: 7,224,420 (GRCm39) V92A probably benign Het
Tiam2 A G 17: 3,465,231 (GRCm39) Y320C probably damaging Het
Toporsl T C 4: 52,611,469 (GRCm39) I454T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ubap1l T C 9: 65,276,570 (GRCm39) V24A probably benign Het
Unc13c A T 9: 73,466,238 (GRCm39) S1810T probably benign Het
Vmn1r56 A T 7: 5,199,122 (GRCm39) I165K probably benign Het
Wnt8b A G 19: 44,499,757 (GRCm39) T169A possibly damaging Het
Wrap73 T C 4: 154,239,099 (GRCm39) probably null Het
Wwc2 A G 8: 48,317,096 (GRCm39) I703T unknown Het
Zfp354a T A 11: 50,961,432 (GRCm39) C546S probably damaging Het
Other mutations in Or52n2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Or52n2 APN 7 104,542,179 (GRCm39) missense probably damaging 1.00
IGL01016:Or52n2 APN 7 104,542,243 (GRCm39) missense probably damaging 1.00
IGL01577:Or52n2 APN 7 104,542,730 (GRCm39) missense probably benign
IGL01775:Or52n2 APN 7 104,542,499 (GRCm39) missense possibly damaging 0.95
IGL01932:Or52n2 APN 7 104,542,425 (GRCm39) missense probably damaging 0.99
IGL02559:Or52n2 APN 7 104,542,161 (GRCm39) missense probably benign 0.01
IGL03193:Or52n2 APN 7 104,542,263 (GRCm39) missense probably benign 0.31
R0359:Or52n2 UTSW 7 104,542,521 (GRCm39) missense probably damaging 0.99
R0494:Or52n2 UTSW 7 104,542,478 (GRCm39) missense probably damaging 1.00
R0680:Or52n2 UTSW 7 104,542,211 (GRCm39) missense probably benign 0.23
R1476:Or52n2 UTSW 7 104,542,444 (GRCm39) nonsense probably null
R1988:Or52n2 UTSW 7 104,542,110 (GRCm39) missense probably damaging 1.00
R2520:Or52n2 UTSW 7 104,542,080 (GRCm39) missense probably benign 0.01
R3690:Or52n2 UTSW 7 104,542,724 (GRCm39) missense possibly damaging 0.66
R5220:Or52n2 UTSW 7 104,542,104 (GRCm39) missense possibly damaging 0.94
R5322:Or52n2 UTSW 7 104,542,371 (GRCm39) missense probably benign 0.14
R6865:Or52n2 UTSW 7 104,542,719 (GRCm39) missense probably benign 0.00
R7235:Or52n2 UTSW 7 104,541,926 (GRCm39) missense probably benign 0.01
R7404:Or52n2 UTSW 7 104,542,181 (GRCm39) missense possibly damaging 0.61
R9146:Or52n2 UTSW 7 104,542,452 (GRCm39) missense probably damaging 1.00
R9569:Or52n2 UTSW 7 104,542,525 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- ATCAATAGAGCAACCATGAGGC -3'
(R):5'- TGTGTACAACCACAGTGCCC -3'

Sequencing Primer
(F):5'- ATTGCCACAGGATACCTTGG -3'
(R):5'- ACAGTGCCCAATATGCTGTG -3'
Posted On 2017-01-03