Incidental Mutation 'R7812:Or52e4'
ID 601223
Institutional Source Beutler Lab
Gene Symbol Or52e4
Ensembl Gene ENSMUSG00000073914
Gene Name olfactory receptor family 52 subfamily E member 4
Synonyms Olfr677, GA_x6K02T2PBJ9-7685262-7686200, MOR32-11
MMRRC Submission 045867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R7812 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 104705455-104706393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104705894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 147 (L147P)
Ref Sequence ENSEMBL: ENSMUSP00000149888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098161] [ENSMUST00000213204]
AlphaFold Q8VF06
Predicted Effect possibly damaging
Transcript: ENSMUST00000098161
AA Change: L147P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095764
Gene: ENSMUSG00000073914
AA Change: L147P

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 7.6e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 308 4.8e-6 PFAM
Pfam:7tm_1 43 293 1.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213204
AA Change: L147P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,165,141 (GRCm39) C411F probably damaging Het
Abhd17c G T 7: 83,800,624 (GRCm39) Y143* probably null Het
Acad11 T G 9: 103,972,747 (GRCm39) L480R probably benign Het
Acad8 A T 9: 26,890,476 (GRCm39) N277K probably damaging Het
Adcy10 A G 1: 165,342,938 (GRCm39) Y268C probably damaging Het
Adm2 A T 15: 89,208,367 (GRCm39) R102S possibly damaging Het
Ambra1 A T 2: 91,596,911 (GRCm39) M1L probably benign Het
Angpt2 T C 8: 18,742,161 (GRCm39) N465S probably benign Het
Arhgap17 T C 7: 122,879,290 (GRCm39) I820M unknown Het
Atf7ip G A 6: 136,580,415 (GRCm39) R1113Q probably damaging Het
Atp5pb A G 3: 105,851,157 (GRCm39) V180A probably benign Het
Auts2 C T 5: 131,501,284 (GRCm39) R43H Het
Cacna1g A T 11: 94,334,880 (GRCm39) I809N probably benign Het
Cand1 A T 10: 119,053,864 (GRCm39) M158K probably benign Het
Cars1 T A 7: 143,123,784 (GRCm39) I500F probably damaging Het
Ccdc18 T A 5: 108,328,699 (GRCm39) M706K probably benign Het
Ccdc180 G A 4: 45,906,952 (GRCm39) probably null Het
Ces1f A G 8: 93,984,938 (GRCm39) V463A probably benign Het
Cndp1 G T 18: 84,655,994 (GRCm39) D58E probably benign Het
Csnk2b A T 17: 35,339,431 (GRCm39) F21Y probably benign Het
Dgkg C G 16: 22,385,165 (GRCm39) R447T probably damaging Het
Dnajc12 A G 10: 63,242,905 (GRCm39) D141G probably benign Het
Edar A G 10: 58,465,926 (GRCm39) V4A probably benign Het
Elf1 A G 14: 79,802,998 (GRCm39) D117G probably damaging Het
Fam124b T C 1: 80,191,351 (GRCm39) T11A probably damaging Het
Fgl2 C A 5: 21,577,896 (GRCm39) T61K probably benign Het
Furin T C 7: 80,045,722 (GRCm39) N218S possibly damaging Het
Gcn1 T A 5: 115,731,751 (GRCm39) H955Q possibly damaging Het
Gucy2e A G 11: 69,117,069 (GRCm39) I784T probably damaging Het
Ice1 T A 13: 70,751,124 (GRCm39) Q1654L possibly damaging Het
Klhl28 T C 12: 64,990,363 (GRCm39) N526S possibly damaging Het
Ldlrad4 C A 18: 68,239,742 (GRCm39) P54Q probably benign Het
Lsm14a A G 7: 34,088,301 (GRCm39) probably benign Het
Mdga1 A G 17: 30,062,115 (GRCm39) V438A probably benign Het
Mrto4 A G 4: 139,075,278 (GRCm39) V175A possibly damaging Het
Nav2 T G 7: 49,246,921 (GRCm39) S2149A probably benign Het
Nr4a2 A G 2: 57,002,430 (GRCm39) Y8H probably damaging Het
Or10q12 T C 19: 13,746,380 (GRCm39) F225L probably benign Het
Or1j12 T A 2: 36,343,290 (GRCm39) I231N probably benign Het
Or1j18 A T 2: 36,624,737 (GRCm39) M135L probably benign Het
Oxr1 T A 15: 41,615,138 (GRCm39) M1K probably null Het
Pbx3 T C 2: 34,114,478 (GRCm39) Y152C probably damaging Het
Pcdhb13 T A 18: 37,575,645 (GRCm39) C8S probably benign Het
Polr1c G A 17: 46,557,053 (GRCm39) R77W probably damaging Het
Psg25 A T 7: 18,255,093 (GRCm39) N474K possibly damaging Het
Ralgapa1 T A 12: 55,766,413 (GRCm39) M838L possibly damaging Het
Ranbp2 A G 10: 58,303,224 (GRCm39) T799A probably benign Het
Sbf2 C T 7: 110,049,170 (GRCm39) V265I possibly damaging Het
Scarf2 G A 16: 17,621,692 (GRCm39) G381R probably damaging Het
Shprh A G 10: 11,027,735 (GRCm39) Q114R probably benign Het
Sipa1l2 A C 8: 126,218,334 (GRCm39) D334E probably damaging Het
Slc26a4 T A 12: 31,594,449 (GRCm39) I300F probably damaging Het
Sox7 C T 14: 64,185,681 (GRCm39) T239I probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,659,927 (GRCm39) H129N probably benign Het
Stxbp4 A G 11: 90,485,654 (GRCm39) L231P probably damaging Het
Syngap1 A C 17: 27,160,478 (GRCm39) Y18S probably benign Het
Tenm3 T C 8: 48,729,335 (GRCm39) Y1557C probably benign Het
Trim44 G T 2: 102,230,489 (GRCm39) P181T possibly damaging Het
Trp53i13 A T 11: 77,399,666 (GRCm39) V221D possibly damaging Het
Trpm7 A G 2: 126,641,236 (GRCm39) S1554P probably damaging Het
Vcl A G 14: 21,045,158 (GRCm39) N288D probably benign Het
Vmn2r59 A T 7: 41,695,196 (GRCm39) Y405* probably null Het
Vps35 T C 8: 86,010,818 (GRCm39) D175G probably benign Het
Wdr90 A T 17: 26,071,532 (GRCm39) L949Q probably damaging Het
Wwp1 G A 4: 19,639,991 (GRCm39) T517I probably damaging Het
Zfp462 T G 4: 55,008,509 (GRCm39) F158L probably benign Het
Zfp703 T A 8: 27,469,906 (GRCm39) H523Q probably damaging Het
Other mutations in Or52e4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Or52e4 APN 7 104,706,152 (GRCm39) missense probably benign 0.10
IGL02351:Or52e4 APN 7 104,706,182 (GRCm39) missense probably damaging 0.98
IGL02358:Or52e4 APN 7 104,706,182 (GRCm39) missense probably damaging 0.98
IGL02696:Or52e4 APN 7 104,705,569 (GRCm39) missense probably benign 0.39
R0089:Or52e4 UTSW 7 104,706,297 (GRCm39) nonsense probably null
R0963:Or52e4 UTSW 7 104,706,179 (GRCm39) missense probably damaging 0.98
R1157:Or52e4 UTSW 7 104,706,091 (GRCm39) missense probably benign 0.01
R1719:Or52e4 UTSW 7 104,706,001 (GRCm39) missense probably damaging 0.97
R1998:Or52e4 UTSW 7 104,706,112 (GRCm39) missense probably benign 0.05
R2039:Or52e4 UTSW 7 104,705,597 (GRCm39) missense possibly damaging 0.75
R2180:Or52e4 UTSW 7 104,706,092 (GRCm39) missense probably benign 0.18
R2568:Or52e4 UTSW 7 104,705,878 (GRCm39) missense probably benign 0.00
R4700:Or52e4 UTSW 7 104,705,483 (GRCm39) missense possibly damaging 0.81
R4701:Or52e4 UTSW 7 104,706,086 (GRCm39) missense probably damaging 1.00
R4803:Or52e4 UTSW 7 104,705,863 (GRCm39) missense probably benign 0.39
R4888:Or52e4 UTSW 7 104,705,689 (GRCm39) missense possibly damaging 0.95
R5121:Or52e4 UTSW 7 104,705,689 (GRCm39) missense possibly damaging 0.95
R5190:Or52e4 UTSW 7 104,705,660 (GRCm39) missense probably damaging 0.96
R5593:Or52e4 UTSW 7 104,705,711 (GRCm39) missense probably damaging 1.00
R6831:Or52e4 UTSW 7 104,706,086 (GRCm39) missense possibly damaging 0.95
R6991:Or52e4 UTSW 7 104,705,771 (GRCm39) missense probably damaging 1.00
R7387:Or52e4 UTSW 7 104,706,297 (GRCm39) nonsense probably null
R7984:Or52e4 UTSW 7 104,705,639 (GRCm39) missense probably damaging 0.98
R8199:Or52e4 UTSW 7 104,705,852 (GRCm39) missense probably damaging 0.99
R9532:Or52e4 UTSW 7 104,706,275 (GRCm39) missense probably damaging 1.00
R9563:Or52e4 UTSW 7 104,706,281 (GRCm39) missense possibly damaging 0.80
R9646:Or52e4 UTSW 7 104,706,374 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCTGGTTCAATCTCCGGGAG -3'
(R):5'- ACAGCTCGAAGGATAAGCAC -3'

Sequencing Primer
(F):5'- ATCTCCGGGAGATCAGTTTCG -3'
(R):5'- TATGGGAAATCACTACGAGTCC -3'
Posted On 2019-11-26