Incidental Mutation 'R9792:Or52m1'
ID 734685
Institutional Source Beutler Lab
Gene Symbol Or52m1
Ensembl Gene ENSMUSG00000073971
Gene Name olfactory receptor family 52 subfamily M member 1
Synonyms GA_x6K02T2PBJ9-5356887-5357840, Olfr554, MOR25-1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R9792 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102289455-102290408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102289788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 112 (V112I)
Ref Sequence ENSEMBL: ENSMUSP00000150312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098221] [ENSMUST00000214841] [ENSMUST00000215995]
AlphaFold E9Q546
Predicted Effect probably benign
Transcript: ENSMUST00000098221
AA Change: V112I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000095824
Gene: ENSMUSG00000073971
AA Change: V112I

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3.3e-108 PFAM
Pfam:7TM_GPCR_Srsx 37 152 4.7e-10 PFAM
Pfam:7tm_1 43 295 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214841
AA Change: V112I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000215995
AA Change: V112I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,719 (GRCm39) D99G unknown Het
Add2 A T 6: 86,078,135 (GRCm39) probably null Het
Afap1l1 T C 18: 61,874,822 (GRCm39) D453G possibly damaging Het
Agrn A G 4: 156,261,129 (GRCm39) V656A probably benign Het
Alpk3 T C 7: 80,750,881 (GRCm39) probably null Het
Ano1 A T 7: 144,175,434 (GRCm39) W495R probably damaging Het
Apc T A 18: 34,447,628 (GRCm39) L1508Q probably damaging Het
Bbs12 C T 3: 37,374,224 (GRCm39) T224I possibly damaging Het
Cald1 A T 6: 34,723,071 (GRCm39) M52L Het
Calhm6 T C 10: 34,002,544 (GRCm39) I180V probably damaging Het
Ccdc9b T C 2: 118,587,784 (GRCm39) S517G unknown Het
Cdk11b T A 4: 155,732,378 (GRCm39) H510Q unknown Het
Cdk12 T A 11: 98,102,051 (GRCm39) D636E unknown Het
Cfap53 A G 18: 74,438,741 (GRCm39) D306G probably benign Het
Cnnm1 T C 19: 43,482,252 (GRCm39) probably null Het
Cnrip1 G A 11: 17,004,812 (GRCm39) A121T probably benign Het
Cntnap5c A T 17: 58,409,192 (GRCm39) T477S probably benign Het
Cyp2c54 G C 19: 40,034,525 (GRCm39) P382A probably damaging Het
Cyp4a30b A G 4: 115,316,167 (GRCm39) T298A probably benign Het
Dmkn A T 7: 30,464,845 (GRCm39) N273Y unknown Het
Dsp A G 13: 38,379,494 (GRCm39) T2080A possibly damaging Het
Ermard T C 17: 15,281,441 (GRCm39) L617P probably damaging Het
Grik3 A G 4: 125,526,315 (GRCm39) T183A probably damaging Het
Gstt1 T C 10: 75,634,391 (GRCm39) probably benign Het
Hao1 T A 2: 134,372,552 (GRCm39) Y152F possibly damaging Het
Hdac7 T C 15: 97,698,671 (GRCm39) T629A possibly damaging Het
Hmcn1 G A 1: 150,608,689 (GRCm39) P1498S possibly damaging Het
Iqcf3 T A 9: 106,434,714 (GRCm39) K41N probably benign Het
Lrriq3 T C 3: 154,893,313 (GRCm39) M338T probably benign Het
Ltbp2 A T 12: 84,876,128 (GRCm39) I493N probably damaging Het
Map1a T C 2: 121,121,304 (GRCm39) probably null Het
Mzf1 T C 7: 12,786,131 (GRCm39) T267A probably benign Het
N4bp2l2 A G 5: 150,584,897 (GRCm39) I19T probably benign Het
Ncoa2 G T 1: 13,260,355 (GRCm39) Q107K possibly damaging Het
Nin A T 12: 70,094,009 (GRCm39) I605N Het
Nr1h4 T G 10: 89,314,651 (GRCm39) T286P probably benign Het
Nsd2 A G 5: 34,003,489 (GRCm39) D213G possibly damaging Het
Nuggc T C 14: 65,847,345 (GRCm39) S131P probably damaging Het
Or4a78 T C 2: 89,497,811 (GRCm39) I140V probably benign Het
Or4f14c T C 2: 111,941,330 (GRCm39) H89R probably benign Het
Or5b113 A T 19: 13,342,514 (GRCm39) H174L probably damaging Het
Or8h9 T A 2: 86,789,119 (GRCm39) I228F probably damaging Het
Otud7a C T 7: 63,378,845 (GRCm39) R232W probably damaging Het
Pacsin3 C A 2: 91,094,160 (GRCm39) A363D probably benign Het
Pcdh17 C T 14: 84,770,350 (GRCm39) R943* probably null Het
Pcnx2 A G 8: 126,534,820 (GRCm39) F1270L probably damaging Het
Pds5a T C 5: 65,795,989 (GRCm39) M634V probably benign Het
Pkd1 A G 17: 24,800,172 (GRCm39) T2978A probably benign Het
Pkhd1l1 T C 15: 44,406,983 (GRCm39) S2407P probably benign Het
Polr2i T C 7: 29,932,190 (GRCm39) Y44H probably damaging Het
Ppip5k2 A T 1: 97,671,822 (GRCm39) Y489* probably null Het
Ppp3r1 C A 11: 17,132,117 (GRCm39) A5E probably benign Het
Pramel60 C A 5: 95,339,810 (GRCm39) H110N probably damaging Het
Rasgrp1 T C 2: 117,118,429 (GRCm39) D520G probably benign Het
Rex2 A C 4: 147,142,039 (GRCm39) N176H probably damaging Het
Rsl1d1 T C 16: 11,017,300 (GRCm39) N194S possibly damaging Het
Sidt2 A G 9: 45,850,563 (GRCm39) Y851H probably damaging Het
Slc5a8 T C 10: 88,757,591 (GRCm39) I527T possibly damaging Het
Slc6a7 C A 18: 61,138,866 (GRCm39) R214L probably benign Het
Stx7 T C 10: 24,057,475 (GRCm39) L167P probably damaging Het
Tas2r120 A T 6: 132,634,528 (GRCm39) K203N possibly damaging Het
Tbc1d22a T C 15: 86,119,839 (GRCm39) L81P probably damaging Het
Tert A G 13: 73,792,442 (GRCm39) E903G probably benign Het
Tpm4 A G 8: 72,905,663 (GRCm39) I248V probably benign Het
Trim42 A G 9: 97,245,429 (GRCm39) I457T probably damaging Het
Ttc23l T A 15: 10,537,731 (GRCm39) I180F probably benign Het
Usp9y T C Y: 1,364,679 (GRCm39) M1045V probably benign Het
Vim A G 2: 13,579,598 (GRCm39) D119G probably benign Het
Vmn1r82 A T 7: 12,039,083 (GRCm39) M119L probably benign Het
Vmn2r118 T C 17: 55,899,496 (GRCm39) T803A probably damaging Het
Vwa3a C A 7: 120,383,307 (GRCm39) A636D probably damaging Het
Zbtb7a G A 10: 80,980,378 (GRCm39) A191T probably benign Het
Zfp819 A G 7: 43,261,519 (GRCm39) H62R possibly damaging Het
Other mutations in Or52m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Or52m1 APN 7 102,289,627 (GRCm39) missense probably damaging 1.00
IGL02622:Or52m1 APN 7 102,290,290 (GRCm39) missense probably damaging 1.00
R0550:Or52m1 UTSW 7 102,290,157 (GRCm39) missense possibly damaging 0.84
R4051:Or52m1 UTSW 7 102,290,233 (GRCm39) missense possibly damaging 0.90
R5817:Or52m1 UTSW 7 102,289,585 (GRCm39) missense probably damaging 1.00
R7278:Or52m1 UTSW 7 102,290,190 (GRCm39) missense probably damaging 1.00
R7427:Or52m1 UTSW 7 102,289,533 (GRCm39) missense probably benign
R7428:Or52m1 UTSW 7 102,289,533 (GRCm39) missense probably benign
R8234:Or52m1 UTSW 7 102,289,678 (GRCm39) missense probably damaging 1.00
R8954:Or52m1 UTSW 7 102,289,882 (GRCm39) missense probably benign 0.03
R9793:Or52m1 UTSW 7 102,289,788 (GRCm39) missense probably benign 0.02
Z1177:Or52m1 UTSW 7 102,289,609 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- GAACATCACCATCCTAGCTGTG -3'
(R):5'- GACTCGGGTTTTGTAAAGAGGC -3'

Sequencing Primer
(F):5'- ATCACCATCCTAGCTGTGGTAAGG -3'
(R):5'- TTTTGTAAAGAGGCAACCGC -3'
Posted On 2022-11-14