Incidental Mutation 'R1998:Or52e4'
ID 224554
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 040008-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R1998 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104705455-104706393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104706112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 220 (V220L)
Ref Sequence ENSEMBL: ENSMUSP00000149888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098161] [ENSMUST00000213204]
AlphaFold Q8VF06
Predicted Effect probably benign
Transcript: ENSMUST00000098161
AA Change: V220L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000095764
Gene: ENSMUSG00000073914
AA Change: V220L

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 noncoding transcript
Transcript: ENSMUST00000209491
Predicted Effect probably benign
Transcript: ENSMUST00000213204
AA Change: V220L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T G 5: 88,118,553 (GRCm39) N12K probably damaging Het
2700049A03Rik T A 12: 71,235,393 (GRCm39) S1114R possibly damaging Het
Acot1 T A 12: 84,056,527 (GRCm39) W82R probably damaging Het
Adam22 T C 5: 8,379,995 (GRCm39) D101G probably damaging Het
Adcy9 T C 16: 4,115,276 (GRCm39) D705G probably benign Het
Adgrg3 T G 8: 95,763,296 (GRCm39) L244V probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brinp1 C T 4: 68,680,790 (GRCm39) G580E probably damaging Het
Brwd1 G A 16: 95,822,488 (GRCm39) T1239M probably damaging Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Camta1 T C 4: 151,162,337 (GRCm39) Y1560C probably damaging Het
Cbfa2t2 T A 2: 154,346,709 (GRCm39) L139M probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Dgka C T 10: 128,565,808 (GRCm39) V367I probably benign Het
Dnajb13 A T 7: 100,153,817 (GRCm39) I206N probably benign Het
Dst A T 1: 34,295,428 (GRCm39) Q5693L probably damaging Het
Ear6 T A 14: 52,091,672 (GRCm39) I73N probably benign Het
Egr1 A G 18: 34,994,587 (GRCm39) I16V probably benign Het
Eif2s1 T A 12: 78,913,508 (GRCm39) C70S possibly damaging Het
Epcam T C 17: 87,947,902 (GRCm39) V124A probably damaging Het
Erbb2 T A 11: 98,319,779 (GRCm39) C624S probably damaging Het
Fam135b T A 15: 71,324,253 (GRCm39) H1238L probably damaging Het
Fam90a1a A G 8: 22,453,713 (GRCm39) D356G probably benign Het
Fbrsl1 G A 5: 110,524,305 (GRCm39) S127L probably benign Het
Fndc3c1 C T X: 105,464,311 (GRCm39) E1276K probably benign Het
Gbe1 A T 16: 70,365,929 (GRCm39) N702I probably damaging Het
Gm10643 A T 8: 84,791,053 (GRCm39) C20* probably null Het
Gpr156 A G 16: 37,818,270 (GRCm39) N322S possibly damaging Het
Gsdma T A 11: 98,564,520 (GRCm39) I333N probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Htr5a G A 5: 28,055,887 (GRCm39) V293M possibly damaging Het
Hyal4 A G 6: 24,756,310 (GRCm39) E176G probably benign Het
Iqca1l G A 5: 24,750,004 (GRCm39) R680C probably benign Het
Jag1 T C 2: 136,932,858 (GRCm39) D546G probably damaging Het
Kbtbd3 A G 9: 4,330,760 (GRCm39) E378G probably benign Het
Lipo4 A G 19: 33,491,701 (GRCm39) V94A probably damaging Het
Magea10 A T X: 71,426,379 (GRCm39) I205K probably benign Het
Manea A G 4: 26,327,871 (GRCm39) L390P probably damaging Het
Mars1 T A 10: 127,136,347 (GRCm39) K493* probably null Het
Mars1 T C 10: 127,138,740 (GRCm39) I439V probably benign Het
Mboat2 A G 12: 24,996,672 (GRCm39) D225G possibly damaging Het
Mcmbp T A 7: 128,310,887 (GRCm39) E350V probably damaging Het
Mki67 A G 7: 135,307,499 (GRCm39) M459T probably benign Het
Mlf1 G A 3: 67,302,624 (GRCm39) G150R probably damaging Het
Mtmr14 A G 6: 113,254,885 (GRCm39) D294G probably null Het
Nlrp4e A C 7: 23,020,671 (GRCm39) Y386S probably benign Het
Nomo1 A G 7: 45,683,368 (GRCm39) D38G possibly damaging Het
Nudcd2 T C 11: 40,624,844 (GRCm39) W18R probably damaging Het
Or11g26 T A 14: 50,752,813 (GRCm39) C51S probably benign Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or5w16 T C 2: 87,577,316 (GRCm39) Y259H probably damaging Het
Pcnx2 A T 8: 126,613,882 (GRCm39) V523D probably damaging Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhh2 T A 17: 84,914,305 (GRCm39) L1236Q possibly damaging Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prrc2c T A 1: 162,532,487 (GRCm39) probably benign Het
Rai14 C T 15: 10,595,067 (GRCm39) probably null Het
Rap1gap2 A G 11: 74,286,659 (GRCm39) L547P probably benign Het
Rims3 A T 4: 120,748,555 (GRCm39) M259L probably benign Het
Rsbn1l G A 5: 21,107,368 (GRCm39) H549Y probably damaging Het
Sart3 A C 5: 113,885,982 (GRCm39) probably null Het
Scn7a C A 2: 66,513,613 (GRCm39) G1156C probably damaging Het
Sh3rf2 T A 18: 42,274,148 (GRCm39) V406D probably damaging Het
Slitrk6 T C 14: 110,989,255 (GRCm39) I151V probably damaging Het
Smarca2 A T 19: 26,608,493 (GRCm39) Q260L probably benign Het
Smco1 A G 16: 32,092,658 (GRCm39) R110G probably damaging Het
Spef2 T A 15: 9,668,989 (GRCm39) probably null Het
Stab1 T A 14: 30,884,110 (GRCm39) K219* probably null Het
Sulf1 G T 1: 12,929,058 (GRCm39) E869* probably null Het
Susd1 T C 4: 59,349,925 (GRCm39) I504V probably benign Het
Szt2 A G 4: 118,232,924 (GRCm39) probably null Het
Tas1r3 A T 4: 155,947,377 (GRCm39) C103S probably damaging Het
Thg1l C A 11: 45,841,030 (GRCm39) W243L possibly damaging Het
Tlr4 A T 4: 66,758,707 (GRCm39) D500V probably damaging Het
Tmem72 A G 6: 116,693,525 (GRCm39) V5A probably benign Het
Tns4 T G 11: 98,976,529 (GRCm39) M131L probably benign Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttll6 T A 11: 96,030,601 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Vmn1r74 G T 7: 11,581,302 (GRCm39) V201F probably damaging Het
Vmn2r28 G T 7: 5,491,313 (GRCm39) D311E possibly damaging Het
Vtn T A 11: 78,390,542 (GRCm39) V67E probably damaging Het
Xirp2 T A 2: 67,339,393 (GRCm39) F545I 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
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
R7812:Or52e4 UTSW 7 104,705,894 (GRCm39) missense possibly damaging 0.59
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'- AATTCTCGTGACTCCGTTTGTG -3'
(R):5'- TTCAGAGCAGGTGGAATGAC -3'

Sequencing Primer
(F):5'- GTGTTTCTCATTCTAAGACTGCC -3'
(R):5'- GTGGAATGACTACATACAGATTAGC -3'
Posted On 2014-08-25