Incidental Mutation 'R0546:Or52ae7'
ID 44829
Institutional Source Beutler Lab
Gene Symbol Or52ae7
Ensembl Gene ENSMUSG00000073948
Gene Name olfactory receptor family 52 subfamily AE member 7
Synonyms MOR26-3, GA_x6K02T2PBJ9-6191595-6192545, Olfr608
MMRRC Submission 038738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0546 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103119248-103120198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103119907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 220 (I220M)
Ref Sequence ENSEMBL: ENSMUSP00000150595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213546]
AlphaFold E9Q564
Predicted Effect possibly damaging
Transcript: ENSMUST00000098199
AA Change: I220M

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095801
Gene: ENSMUSG00000073948
AA Change: I220M

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 4.7e-101 PFAM
Pfam:7TM_GPCR_Srsx 36 308 7.1e-8 PFAM
Pfam:7tm_1 42 293 6.4e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213546
AA Change: I220M

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (74/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,077,076 (GRCm39) probably null Het
Actn1 C T 12: 80,225,208 (GRCm39) R418Q probably benign Het
Adam39 G A 8: 41,279,468 (GRCm39) V620M probably damaging Het
Agr3 C A 12: 35,978,329 (GRCm39) T14K probably benign Het
Alpk2 T C 18: 65,439,788 (GRCm39) D1002G probably benign Het
Amz2 T A 11: 109,324,780 (GRCm39) N221K probably benign Het
Aox4 A G 1: 58,289,333 (GRCm39) E752G probably damaging Het
Ap2a1 C T 7: 44,554,132 (GRCm39) G500S probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Ccdc112 A G 18: 46,424,139 (GRCm39) S200P possibly damaging Het
Ccdc18 A T 5: 108,322,830 (GRCm39) E643D probably benign Het
Ccdc180 A T 4: 45,904,597 (GRCm39) T398S possibly damaging Het
Cnp A G 11: 100,471,549 (GRCm39) Y397C probably damaging Het
Cpa4 T C 6: 30,580,962 (GRCm39) W184R probably damaging Het
Crebbp A T 16: 3,903,671 (GRCm39) I1856N probably damaging Het
Ctrl A G 8: 106,658,966 (GRCm39) I200T probably damaging Het
Cyfip1 C T 7: 55,572,564 (GRCm39) R934* probably null Het
Dennd5a A G 7: 109,520,633 (GRCm39) V408A probably benign Het
Dhfr G A 13: 92,504,692 (GRCm39) probably null Het
Dnajc6 A T 4: 101,492,388 (GRCm39) N740Y probably damaging Het
Fam110a T C 2: 151,812,732 (GRCm39) T13A probably benign Het
Fars2 G T 13: 36,388,569 (GRCm39) K19N probably benign Het
Fer1l6 A T 15: 58,430,257 (GRCm39) probably null Het
Gabra1 T A 11: 42,053,428 (GRCm39) T69S probably damaging Het
Galnt18 T G 7: 111,107,348 (GRCm39) N475T probably damaging Het
Gbp4 T C 5: 105,268,836 (GRCm39) Y439C probably damaging Het
Gpatch2l A G 12: 86,335,622 (GRCm39) *409W probably null Het
Hip1r T C 5: 124,137,114 (GRCm39) V658A possibly damaging Het
Hspg2 A G 4: 137,229,605 (GRCm39) D73G probably benign Het
Ifitm2 A G 7: 140,535,656 (GRCm39) V58A possibly damaging Het
Ift172 T C 5: 31,414,945 (GRCm39) D1359G probably benign Het
Ing1 A G 8: 11,607,031 (GRCm39) D41G probably damaging Het
Itgal C T 7: 126,909,486 (GRCm39) T446I probably benign Het
Itgav G T 2: 83,633,586 (GRCm39) M978I probably benign Het
Jazf1 A G 6: 52,754,681 (GRCm39) Y132H possibly damaging Het
Lgr4 T A 2: 109,829,766 (GRCm39) N211K probably damaging Het
Mgat4d A G 8: 84,082,350 (GRCm39) N100S possibly damaging Het
Mrgprb3 T C 7: 48,293,263 (GRCm39) Y96C probably damaging Het
Myh11 A C 16: 14,023,492 (GRCm39) L1562R probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo15a A G 11: 60,397,139 (GRCm39) Y2667C probably damaging Het
Or14j7 T A 17: 38,235,229 (GRCm39) C257* probably null Het
Or6c70 G A 10: 129,710,407 (GRCm39) T73I possibly damaging Het
Or8k37 T A 2: 86,469,573 (GRCm39) T160S possibly damaging Het
Or8k38 C T 2: 86,488,235 (GRCm39) C189Y possibly damaging Het
Or9m2 T A 2: 87,820,816 (GRCm39) Y120* probably null Het
Paox G T 7: 139,711,591 (GRCm39) G148W probably damaging Het
Pkd1 T C 17: 24,799,112 (GRCm39) V2777A probably benign Het
Plod2 T A 9: 92,477,388 (GRCm39) V360E probably damaging Het
Prune2 T C 19: 16,998,030 (GRCm39) probably benign Het
Sbds G T 5: 130,282,919 (GRCm39) A3D possibly damaging Het
Sec23a T C 12: 59,031,953 (GRCm39) T426A probably benign Het
Sec31a T C 5: 100,551,929 (GRCm39) Y148C probably damaging Het
Shprh T A 10: 11,059,631 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,066,742 (GRCm39) V299A probably benign Het
Smg8 T C 11: 86,974,439 (GRCm39) Y174C possibly damaging Het
Snx22 T A 9: 65,976,059 (GRCm39) Y58F probably damaging Het
Snx25 A G 8: 46,556,667 (GRCm39) Y308H probably benign Het
St3gal2 A G 8: 111,696,738 (GRCm39) probably null Het
Stab1 C T 14: 30,861,507 (GRCm39) R2500H possibly damaging Het
Steap4 T C 5: 8,025,870 (GRCm39) S144P probably damaging Het
Stfa3 T A 16: 36,272,619 (GRCm39) probably benign Het
Tmprss9 C A 10: 80,735,157 (GRCm39) Q1095K probably benign Het
Top2a A G 11: 98,890,052 (GRCm39) V1217A possibly damaging Het
Trhr2 A G 8: 123,085,228 (GRCm39) probably null Het
Trim7 A G 11: 48,736,336 (GRCm39) E23G probably damaging Het
Trpv3 A T 11: 73,188,013 (GRCm39) E788V probably damaging Het
Ttn A G 2: 76,575,863 (GRCm39) I25010T probably damaging Het
Ube2ql1 T C 13: 69,887,419 (GRCm39) H14R unknown Het
Uggt1 C T 1: 36,235,052 (GRCm39) R419H probably benign Het
Xpo4 A G 14: 57,850,731 (GRCm39) V391A probably benign Het
Zfhx3 A G 8: 109,520,819 (GRCm39) D647G probably damaging Het
Zfp354c A T 11: 50,706,457 (GRCm39) M206K probably benign Het
Zfp804a A G 2: 82,089,264 (GRCm39) N1031S possibly damaging Het
Zfp868 A G 8: 70,064,882 (GRCm39) V151A probably benign Het
Other mutations in Or52ae7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01735:Or52ae7 APN 7 103,119,530 (GRCm39) missense probably damaging 1.00
IGL02428:Or52ae7 APN 7 103,119,590 (GRCm39) missense probably benign 0.03
IGL02832:Or52ae7 APN 7 103,119,905 (GRCm39) missense probably benign 0.00
R1518:Or52ae7 UTSW 7 103,119,249 (GRCm39) start codon destroyed probably null 0.98
R1696:Or52ae7 UTSW 7 103,119,384 (GRCm39) missense probably benign 0.18
R1735:Or52ae7 UTSW 7 103,119,353 (GRCm39) missense possibly damaging 0.83
R2927:Or52ae7 UTSW 7 103,120,089 (GRCm39) missense probably damaging 1.00
R3856:Or52ae7 UTSW 7 103,119,867 (GRCm39) missense probably damaging 1.00
R4374:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R4375:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R4377:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R5059:Or52ae7 UTSW 7 103,119,488 (GRCm39) nonsense probably null
R5174:Or52ae7 UTSW 7 103,119,610 (GRCm39) missense probably benign 0.14
R5579:Or52ae7 UTSW 7 103,120,121 (GRCm39) missense probably damaging 1.00
R6762:Or52ae7 UTSW 7 103,119,596 (GRCm39) missense probably benign 0.02
R7888:Or52ae7 UTSW 7 103,120,006 (GRCm39) nonsense probably null
R7980:Or52ae7 UTSW 7 103,119,504 (GRCm39) missense probably damaging 1.00
R8150:Or52ae7 UTSW 7 103,119,459 (GRCm39) missense probably damaging 1.00
R8966:Or52ae7 UTSW 7 103,119,524 (GRCm39) missense probably benign 0.07
R9369:Or52ae7 UTSW 7 103,119,555 (GRCm39) missense probably benign 0.14
R9683:Or52ae7 UTSW 7 103,119,157 (GRCm39) start gained probably benign
R9713:Or52ae7 UTSW 7 103,119,914 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TTTGCATCCCACTGCATTATGCAAC -3'
(R):5'- TGGACACTTGGAGGCACATTCTTG -3'

Sequencing Primer
(F):5'- GATGGTTTTGCCATGCCC -3'
(R):5'- CATTCTTGCCAATGCGATGAG -3'
Posted On 2013-06-11