Incidental Mutation 'R4955:Or52a20'
ID 381530
Institutional Source Beutler Lab
Gene Symbol Or52a20
Ensembl Gene ENSMUSG00000094822
Gene Name olfactory receptor family 52 subfamily A member 20
Synonyms GA_x6K02T2PBJ9-6440320-6440766, GA_x6K02T2L9TJ-1933-2295, Olfr243, Olfr627, MOR22-4
MMRRC Submission 042552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4955 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103365803-103366753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103365912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 37 (Y37F)
Ref Sequence ENSEMBL: ENSMUSP00000150329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]
AlphaFold E9PV96
Predicted Effect probably benign
Transcript: ENSMUST00000098194
AA Change: Y37F

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: Y37F

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 1.6e-105 PFAM
Pfam:7tm_1 43 295 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215723
AA Change: Y37F

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1018 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
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
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Khdrbs2 T A 1: 32,559,158 (GRCm39) probably benign Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Ninj2 A G 6: 120,174,907 (GRCm39) N26S probably damaging Het
Nqo1 A G 8: 108,115,489 (GRCm39) S263P probably benign Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Slc5a1 T C 5: 33,318,246 (GRCm39) M633T probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A probably damaging Het
Other mutations in Or52a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Or52a20 APN 7 103,366,328 (GRCm39) missense probably benign 0.06
IGL01550:Or52a20 APN 7 103,366,204 (GRCm39) missense probably damaging 0.98
IGL02698:Or52a20 APN 7 103,366,485 (GRCm39) missense probably damaging 1.00
IGL02795:Or52a20 APN 7 103,366,090 (GRCm39) missense probably benign 0.24
IGL02949:Or52a20 APN 7 103,366,427 (GRCm39) missense probably benign 0.00
IGL03326:Or52a20 APN 7 103,366,069 (GRCm39) missense probably benign 0.12
R1605:Or52a20 UTSW 7 103,365,858 (GRCm39) missense probably damaging 0.99
R1676:Or52a20 UTSW 7 103,366,319 (GRCm39) missense probably benign
R1973:Or52a20 UTSW 7 103,365,804 (GRCm39) start codon destroyed probably null 0.93
R2897:Or52a20 UTSW 7 103,366,749 (GRCm39) missense probably benign
R4667:Or52a20 UTSW 7 103,365,845 (GRCm39) missense probably benign 0.00
R4883:Or52a20 UTSW 7 103,365,914 (GRCm39) missense probably benign
R5322:Or52a20 UTSW 7 103,366,319 (GRCm39) missense probably benign
R5384:Or52a20 UTSW 7 103,366,562 (GRCm39) missense probably benign 0.12
R5386:Or52a20 UTSW 7 103,366,562 (GRCm39) missense probably benign 0.12
R5523:Or52a20 UTSW 7 103,366,687 (GRCm39) nonsense probably null
R7307:Or52a20 UTSW 7 103,366,173 (GRCm39) missense probably damaging 0.96
R7743:Or52a20 UTSW 7 103,366,560 (GRCm39) missense possibly damaging 0.49
R8006:Or52a20 UTSW 7 103,366,532 (GRCm39) missense probably damaging 0.98
R9106:Or52a20 UTSW 7 103,366,737 (GRCm39) missense probably benign
R9581:Or52a20 UTSW 7 103,365,788 (GRCm39) start gained probably benign
R9681:Or52a20 UTSW 7 103,366,475 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAAGGAATATTCTCAGCACCAG -3'
(R):5'- CATTGGAATGTGTGAATCAGCC -3'

Sequencing Primer
(F):5'- GCTGCCAGTCTAATTGAGAAGCC -3'
(R):5'- TGTGTGAATCAGCCACATCTG -3'
Posted On 2016-04-27