Incidental Mutation 'R8250:Or52l1'
ID 640285
Institutional Source Beutler Lab
Gene Symbol Or52l1
Ensembl Gene ENSMUSG00000047794
Gene Name olfactory receptor family 52 subfamily L member 1
Synonyms MOR37-1, GA_x6K02T2PBJ9-7810071-7809121, Olfr685
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 104829568-104830518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104830518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 16 (M16V)
Ref Sequence ENSEMBL: ENSMUSP00000061561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051355] [ENSMUST00000209409]
AlphaFold A0A1L1SVG7
Predicted Effect
SMART Domains Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: M16V

DomainStartEndE-ValueType
Pfam:7tm_4 34 313 3e-107 PFAM
Pfam:7TM_GPCR_Srsx 38 217 2.9e-8 PFAM
Pfam:7tm_1 44 295 7e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000209409
AA Change: M1V
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gabrg2 C T 11: 41,858,379 (GRCm39) V250I probably benign Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Lhfpl6 T C 3: 52,950,759 (GRCm39) I11T probably benign Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Mrpl47 T C 3: 32,785,382 (GRCm39) N112S probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Nuggc A G 14: 65,879,318 (GRCm39) I693V probably benign Het
Oip5 A G 2: 119,446,110 (GRCm39) S133P probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Snrpn T A 7: 59,636,633 (GRCm39) probably null Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging Het
Other mutations in Or52l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Or52l1 APN 7 104,829,695 (GRCm39) missense probably benign 0.00
IGL01612:Or52l1 APN 7 104,829,929 (GRCm39) missense probably damaging 1.00
IGL02598:Or52l1 APN 7 104,830,163 (GRCm39) missense probably damaging 1.00
R0841:Or52l1 UTSW 7 104,830,061 (GRCm39) missense probably damaging 0.96
R1164:Or52l1 UTSW 7 104,830,040 (GRCm39) missense probably benign 0.02
R1711:Or52l1 UTSW 7 104,829,967 (GRCm39) missense probably damaging 0.99
R1891:Or52l1 UTSW 7 104,829,754 (GRCm39) nonsense probably null
R1901:Or52l1 UTSW 7 104,830,079 (GRCm39) missense possibly damaging 0.88
R1990:Or52l1 UTSW 7 104,830,221 (GRCm39) missense probably damaging 1.00
R3766:Or52l1 UTSW 7 104,830,088 (GRCm39) missense probably damaging 0.98
R4750:Or52l1 UTSW 7 104,830,133 (GRCm39) missense probably damaging 1.00
R5056:Or52l1 UTSW 7 104,829,779 (GRCm39) missense probably damaging 1.00
R5061:Or52l1 UTSW 7 104,829,864 (GRCm39) missense possibly damaging 0.56
R6227:Or52l1 UTSW 7 104,829,917 (GRCm39) missense probably damaging 1.00
R7619:Or52l1 UTSW 7 104,829,956 (GRCm39) missense probably damaging 1.00
R8075:Or52l1 UTSW 7 104,830,343 (GRCm39) missense probably damaging 0.98
R8951:Or52l1 UTSW 7 104,829,638 (GRCm39) missense probably damaging 0.99
R8961:Or52l1 UTSW 7 104,830,376 (GRCm39) missense possibly damaging 0.72
R9214:Or52l1 UTSW 7 104,829,587 (GRCm39) missense probably benign 0.00
R9469:Or52l1 UTSW 7 104,829,967 (GRCm39) missense probably damaging 0.99
R9782:Or52l1 UTSW 7 104,830,067 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGTAAGGATGAATCAGTCC -3'
(R):5'- ACTCAGCCTGGTTCAGATATGTG -3'

Sequencing Primer
(F):5'- GTCCAGATAATGAAGATGATAGTCAC -3'
(R):5'- GGAAGACTCATCTGTAAACACTTGC -3'
Posted On 2020-07-28