Incidental Mutation 'R8954:Or52m1'
ID 681836
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 068790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R8954 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102289455-102290408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102289882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 143 (V143A)
Ref Sequence ENSEMBL: ENSMUSP00000150338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098221] [ENSMUST00000214841] [ENSMUST00000215995]
AlphaFold E9Q546
Predicted Effect probably benign
Transcript: ENSMUST00000098221
AA Change: V143A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095824
Gene: ENSMUSG00000073971
AA Change: V143A

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: V143A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000215995
AA Change: V143A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T A 2: 93,688,299 (GRCm39) Y445F probably benign Het
Actn4 T C 7: 28,594,583 (GRCm39) D815G probably damaging Het
Adam4 T C 12: 81,467,146 (GRCm39) S492G possibly damaging Het
Anapc2 A G 2: 25,170,490 (GRCm39) K643E probably benign Het
Ankfy1 T A 11: 72,641,317 (GRCm39) I630K possibly damaging Het
Arhgap24 A G 5: 103,040,136 (GRCm39) T361A probably benign Het
Arhgef28 T C 13: 98,066,141 (GRCm39) M1571V probably benign Het
Arid5b A C 10: 67,937,810 (GRCm39) V196G possibly damaging Het
Art2b C A 7: 101,229,110 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,807 (GRCm39) R932H probably damaging Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Brd10 A T 19: 29,696,126 (GRCm39) N1122K possibly damaging Het
C5ar2 C A 7: 15,971,733 (GRCm39) V65F possibly damaging Het
Cfap54 A T 10: 92,879,255 (GRCm39) L403Q probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Chac1 C T 2: 119,183,836 (GRCm39) A146V probably damaging Het
Cpne2 T A 8: 95,284,774 (GRCm39) S317T probably damaging Het
Cux1 T A 5: 136,402,203 (GRCm39) K138* probably null Het
Cwc22 T A 2: 77,754,937 (GRCm39) Y214F probably damaging Het
Cyp2c39 A T 19: 39,525,197 (GRCm39) T167S probably benign Het
Cyp4a12a T A 4: 115,185,935 (GRCm39) Y414* probably null Het
Dap3 A T 3: 88,835,570 (GRCm39) D256E probably damaging Het
Dmxl2 C T 9: 54,381,156 (GRCm39) S110N probably benign Het
Dnhd1 A T 7: 105,343,986 (GRCm39) I1777L probably benign Het
Ecel1 G A 1: 87,076,349 (GRCm39) Q717* probably null Het
Efcab3 T G 11: 104,909,525 (GRCm39) probably null Het
Eif3j2 G A 18: 43,610,699 (GRCm39) T38M possibly damaging Het
Fat3 T C 9: 16,287,864 (GRCm39) H553R probably benign Het
Fcho2 T C 13: 98,913,985 (GRCm39) D204G probably benign Het
Frmpd1 A T 4: 45,284,702 (GRCm39) E1174D probably benign Het
Gabra6 T A 11: 42,205,959 (GRCm39) Y299F probably damaging Het
Gak G A 5: 108,777,518 (GRCm39) probably benign Het
Gapdhs T A 7: 30,432,591 (GRCm39) H214L probably damaging Het
Gapvd1 T C 2: 34,568,110 (GRCm39) Y1418C probably damaging Het
Gk5 C A 9: 96,059,562 (GRCm39) D471E probably benign Het
Glg1 A G 8: 111,914,527 (GRCm39) M419T probably damaging Het
H2ac25 T A 11: 58,845,785 (GRCm39) N74K possibly damaging Het
Ice1 T C 13: 70,758,697 (GRCm39) N215S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifitm10 T C 7: 141,882,300 (GRCm39) N157D probably benign Het
Itga11 A G 9: 62,676,545 (GRCm39) D911G possibly damaging Het
Kcnt1 A G 2: 25,784,338 (GRCm39) N247S probably benign Het
Kirrel1 T C 3: 86,997,173 (GRCm39) T265A probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Kmt2b T G 7: 30,273,640 (GRCm39) T2326P probably damaging Het
Lcn11 A G 2: 25,669,265 (GRCm39) S141G probably benign Het
Ldb3 T C 14: 34,277,301 (GRCm39) R358G probably null Het
Ldlr G A 9: 21,650,828 (GRCm39) D446N possibly damaging Het
Lipt2 T C 7: 99,809,449 (GRCm39) F179L probably damaging Het
Lmbrd1 G T 1: 24,745,121 (GRCm39) V154F possibly damaging Het
Malrd1 A G 2: 15,556,178 (GRCm39) I99V Het
Map1b T A 13: 99,570,735 (GRCm39) E662V unknown Het
Mfsd11 T C 11: 116,750,162 (GRCm39) S100P probably damaging Het
Mgst1 C T 6: 138,119,967 (GRCm39) probably benign Het
Mtf1 T A 4: 124,698,649 (GRCm39) V49D probably damaging Het
Mtss1 T C 15: 58,826,986 (GRCm39) D236G probably damaging Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 T A 11: 67,143,806 (GRCm39) F1089I possibly damaging Het
Nrxn1 A T 17: 90,897,615 (GRCm39) I835K probably damaging Het
Nsd3 T A 8: 26,163,394 (GRCm39) S595T probably damaging Het
Nt5c2 A T 19: 46,877,361 (GRCm39) S527T probably damaging Het
Or56b2 T A 7: 104,337,900 (GRCm39) L226* probably null Het
Or5k3 T A 16: 58,969,319 (GRCm39) Y35* probably null Het
Or7e175 A T 9: 20,048,664 (GRCm39) D84V probably damaging Het
Or8k28 C A 2: 86,285,892 (GRCm39) C241F probably damaging Het
Osbpl8 A G 10: 111,108,053 (GRCm39) S350G probably benign Het
Otoa G A 7: 120,744,741 (GRCm39) W833* probably null Het
Pcdhga6 T G 18: 37,841,540 (GRCm39) I420S probably damaging Het
Pmfbp1 A C 8: 110,258,433 (GRCm39) M666L probably benign Het
Pola2 T G 19: 5,998,452 (GRCm39) D370A probably damaging Het
Ppip5k1 C G 2: 121,153,701 (GRCm39) probably benign Het
Ppp1r12b A T 1: 134,762,200 (GRCm39) D815E probably benign Het
Ppp4r3b T A 11: 29,155,669 (GRCm39) V545E possibly damaging Het
Ptpn23 A T 9: 110,221,568 (GRCm39) N177K probably damaging Het
Rad9b A T 5: 122,482,293 (GRCm39) S147R probably benign Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Samd9l C T 6: 3,374,577 (GRCm39) V895I probably damaging Het
Sbf2 T A 7: 110,038,118 (GRCm39) K396* probably null Het
Sbno2 G T 10: 79,893,796 (GRCm39) Q1198K probably damaging Het
Scp2d1 C T 2: 144,665,886 (GRCm39) T75I probably damaging Het
Shank3 T A 15: 89,433,431 (GRCm39) I1392N possibly damaging Het
Sidt1 A G 16: 44,082,390 (GRCm39) F532L probably benign Het
Smchd1 A T 17: 71,755,752 (GRCm39) V243D probably damaging Het
Smg1 T C 7: 117,806,215 (GRCm39) R185G probably damaging Het
Spag16 C T 1: 70,036,004 (GRCm39) S344F Het
Spata31f3 G T 4: 42,871,753 (GRCm39) D207E probably damaging Het
Spsb3 A G 17: 25,110,493 (GRCm39) D440G probably damaging Het
Themis A C 10: 28,665,709 (GRCm39) S591R probably benign Het
Trpm1 G A 7: 63,858,089 (GRCm39) V177I probably damaging Het
Usp37 A G 1: 74,514,143 (GRCm39) probably null Het
Vmn1r171 C T 7: 23,332,525 (GRCm39) T238I probably damaging Het
Vmn2r33 T C 7: 7,554,655 (GRCm39) M633V probably benign Het
Vmn2r93 T A 17: 18,546,252 (GRCm39) L708H probably damaging Het
Vps35l A T 7: 118,393,801 (GRCm39) T450S possibly damaging Het
Wdr53 T A 16: 32,075,473 (GRCm39) V226E probably damaging Het
Wdr62 T A 7: 29,953,454 (GRCm39) I193F probably damaging Het
Zfp607b T A 7: 27,403,387 (GRCm39) D614E probably benign 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
R9792:Or52m1 UTSW 7 102,289,788 (GRCm39) missense probably benign 0.02
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'- TGCTGGCTGTCATTGACCTG -3'
(R):5'- AGACATTGTTAACTCTGCTGTCAC -3'

Sequencing Primer
(F):5'- ATGCCCAAACTTCTGGCG -3'
(R):5'- TGTCACCACAGGTCAAGGC -3'
Posted On 2021-08-31