Incidental Mutation 'R8542:Or52m2'
ID 659424
Institutional Source Beutler Lab
Gene Symbol Or52m2
Ensembl Gene ENSMUSG00000073972
Gene Name olfactory receptor family 52 subfamily M member 2
Synonyms Olfr553, MOR25-2, GA_x6K02T2PBJ9-5333671-5332712
MMRRC Submission 068507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8542 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102263214-102264194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102263872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000149901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098222] [ENSMUST00000216776]
AlphaFold Q7TRS6
Predicted Effect probably benign
Transcript: ENSMUST00000098222
AA Change: V108A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095825
Gene: ENSMUSG00000073972
AA Change: V108A

DomainStartEndE-ValueType
Pfam:7tm_4 40 319 1.1e-108 PFAM
Pfam:7TM_GPCR_Srsx 44 158 1.3e-9 PFAM
Pfam:7tm_1 50 302 4.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216776
AA Change: V108A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,634,369 (GRCm39) T634A probably benign Het
Abca12 C T 1: 71,349,047 (GRCm39) probably null Het
Acsl5 A G 19: 55,280,259 (GRCm39) T511A probably damaging Het
Alkbh1 A G 12: 87,478,275 (GRCm39) F212S probably damaging Het
Ankrd35 A G 3: 96,589,353 (GRCm39) I191V probably damaging Het
Apmap T C 2: 150,428,385 (GRCm39) Q254R probably benign Het
Atp10b A G 11: 43,121,208 (GRCm39) D957G probably benign Het
Bag6 G A 17: 35,363,334 (GRCm39) G725S probably damaging Het
Braf T C 6: 39,604,693 (GRCm39) H592R probably benign Het
Cilp A T 9: 65,185,405 (GRCm39) D500V probably damaging Het
Col27a1 T A 4: 63,239,662 (GRCm39) probably null Het
Defa3 T A 8: 21,778,179 (GRCm39) probably null Het
Dst C T 1: 34,231,688 (GRCm39) H3272Y possibly damaging Het
Egfl8 A G 17: 34,833,243 (GRCm39) C168R probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Gipc3 T A 10: 81,174,055 (GRCm39) M240L possibly damaging Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Ier5l A G 2: 30,362,948 (GRCm39) I359T possibly damaging Het
Impg1 C T 9: 80,312,080 (GRCm39) E168K probably damaging Het
Iqcn C A 8: 71,166,520 (GRCm39) probably null Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kctd2 G T 11: 115,320,310 (GRCm39) probably benign Het
Kdm5b A T 1: 134,533,512 (GRCm39) M534L possibly damaging Het
Kif14 T A 1: 136,396,495 (GRCm39) V267D possibly damaging Het
Klra3 A T 6: 130,310,096 (GRCm39) probably null Het
Lmod1 T C 1: 135,292,221 (GRCm39) F359L possibly damaging Het
Mmp24 A G 2: 155,641,634 (GRCm39) E154G probably benign Het
Morc3 G T 16: 93,644,319 (GRCm39) probably null Het
Mtus2 A C 5: 148,240,408 (GRCm39) K85T probably damaging Het
Ncam1 G T 9: 49,419,898 (GRCm39) T806K probably damaging Het
Noc2l A G 4: 156,326,187 (GRCm39) T425A probably benign Het
Olfm3 A T 3: 114,916,196 (GRCm39) Q376L probably benign Het
Pax5 A T 4: 44,570,071 (GRCm39) Y272N probably damaging Het
Pfkp G T 13: 6,631,557 (GRCm39) A166E possibly damaging Het
Pnpt1 C A 11: 29,082,773 (GRCm39) probably null Het
Prss40 A G 1: 34,596,967 (GRCm39) W76R probably damaging Het
Rbms1 A C 2: 60,612,265 (GRCm39) V165G probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl3l A G 17: 24,954,754 (GRCm39) D369G probably damaging Het
Sdr42e2 C A 7: 120,417,137 (GRCm39) P194Q probably damaging Het
Slc29a3 A G 10: 60,566,401 (GRCm39) S111P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
St6galnac6 T A 2: 32,509,513 (GRCm39) I305N probably damaging Het
Tanc2 A G 11: 105,807,834 (GRCm39) E1288G probably damaging Het
Tdrd6 T C 17: 43,935,783 (GRCm39) E1755G probably damaging Het
Tenm4 A T 7: 96,461,139 (GRCm39) D895V probably damaging Het
Tmem190 T A 7: 4,787,157 (GRCm39) C120* probably null Het
Tmem209 C A 6: 30,497,237 (GRCm39) V318F probably damaging Het
Traf3ip3 T A 1: 192,876,851 (GRCm39) I196F probably damaging Het
Trpc4ap G C 2: 155,534,132 (GRCm39) P32R unknown Het
Usp20 T G 2: 30,901,636 (GRCm39) V467G possibly damaging Het
Vav3 A G 3: 109,410,787 (GRCm39) K206R probably damaging Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zfp629 C A 7: 127,210,364 (GRCm39) E482* probably null Het
Other mutations in Or52m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Or52m2 APN 7 102,263,379 (GRCm39) missense probably benign 0.18
IGL01957:Or52m2 APN 7 102,263,546 (GRCm39) missense probably damaging 0.98
IGL02720:Or52m2 APN 7 102,264,046 (GRCm39) missense probably damaging 1.00
IGL03052:Or52m2 UTSW 7 102,263,656 (GRCm39) missense probably benign 0.00
R1812:Or52m2 UTSW 7 102,263,577 (GRCm39) missense possibly damaging 0.95
R1994:Or52m2 UTSW 7 102,263,747 (GRCm39) missense probably damaging 0.97
R3406:Or52m2 UTSW 7 102,263,993 (GRCm39) missense possibly damaging 0.92
R4575:Or52m2 UTSW 7 102,263,976 (GRCm39) nonsense probably null
R5527:Or52m2 UTSW 7 102,263,768 (GRCm39) missense probably benign
R6823:Or52m2 UTSW 7 102,263,693 (GRCm39) missense probably damaging 0.99
R7224:Or52m2 UTSW 7 102,263,974 (GRCm39) missense probably damaging 1.00
R7603:Or52m2 UTSW 7 102,264,145 (GRCm39) missense probably benign
R7823:Or52m2 UTSW 7 102,264,164 (GRCm39) missense probably benign 0.00
R8260:Or52m2 UTSW 7 102,263,432 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CCAATGTAGAATACTCCTCGGAG -3'
(R):5'- GCACATGTGGCTTTCCATCC -3'

Sequencing Primer
(F):5'- ATACTCCTCGGAGAAGTGCAGC -3'
(R):5'- CTCCATGTACCTGGTGGCTG -3'
Posted On 2021-01-18