Incidental Mutation 'R4377:Or52ae7'
ID 325149
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 041676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4377 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103119248-103120198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103119278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000150595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213546]
AlphaFold E9Q564
Predicted Effect probably damaging
Transcript: ENSMUST00000098199
AA Change: S11P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095801
Gene: ENSMUSG00000073948
AA Change: S11P

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 probably damaging
Transcript: ENSMUST00000213546
AA Change: S11P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Arhgap22 A G 14: 33,091,467 (GRCm39) M681V probably damaging Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Atp10d T C 5: 72,454,318 (GRCm39) L189P probably damaging Het
BC034090 A G 1: 155,108,196 (GRCm39) C384R probably benign Het
Ccdc180 T A 4: 45,941,877 (GRCm39) L1380Q probably damaging Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Cenpp A G 13: 49,647,907 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Csn1s2a T C 5: 87,923,680 (GRCm39) V12A probably benign Het
Dapk1 A G 13: 60,867,498 (GRCm39) D235G probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Frmd3 T A 4: 74,046,535 (GRCm39) probably null Het
Gart G A 16: 91,430,982 (GRCm39) A360V probably benign Het
Gm7251 T A 13: 49,958,676 (GRCm39) noncoding transcript Het
Gon4l C A 3: 88,814,694 (GRCm39) P1888T probably benign Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Itgal A G 7: 126,927,453 (GRCm39) Y981C probably benign Het
Kcp C T 6: 29,493,202 (GRCm39) C107Y probably damaging Het
Kdm2a C T 19: 4,379,082 (GRCm39) V138M probably benign Het
Kit T C 5: 75,801,159 (GRCm39) I515T probably benign Het
Kmt2c C T 5: 25,520,324 (GRCm39) V1929I probably benign Het
Krt33a T C 11: 99,903,253 (GRCm39) E263G possibly damaging Het
Mark2 T C 19: 7,268,054 (GRCm39) I50V possibly damaging Het
Mug2 G T 6: 122,047,966 (GRCm39) probably null Het
Mvk A G 5: 114,591,022 (GRCm39) probably benign Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naa15 T C 3: 51,355,786 (GRCm39) I229T possibly damaging Het
Napb A C 2: 148,574,184 (GRCm39) probably null Het
Ncoa3 T G 2: 165,896,417 (GRCm39) L440R possibly damaging Het
Or8g52 T A 9: 39,631,103 (GRCm39) F193L probably benign Het
Osbpl8 T A 10: 111,105,280 (GRCm39) I245N possibly damaging Het
Pdia4 G A 6: 47,775,326 (GRCm39) R495W probably damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Plekha5 T C 6: 140,525,191 (GRCm39) Y376H probably damaging Het
Pole T A 5: 110,485,071 (GRCm39) I395K possibly damaging Het
Prcc A G 3: 87,774,714 (GRCm39) Y363H probably damaging Het
Ptprc A T 1: 137,995,663 (GRCm39) M982K probably benign Het
Ptpro T A 6: 137,357,264 (GRCm39) F252I probably benign Het
Pusl1 A G 4: 155,975,037 (GRCm39) V188A probably benign Het
Rad54l2 A G 9: 106,570,421 (GRCm39) S1300P probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Rtel1 T A 2: 180,997,589 (GRCm39) H1104Q probably damaging Het
Setbp1 T C 18: 78,903,137 (GRCm39) R177G probably damaging Het
Skint6 T C 4: 113,093,715 (GRCm39) T143A possibly damaging Het
Steep1 C A X: 36,087,812 (GRCm39) C206F probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Zfp583 A G 7: 6,320,680 (GRCm39) S111P possibly damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging 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
R0546:Or52ae7 UTSW 7 103,119,907 (GRCm39) missense possibly damaging 0.65
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
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'- CTGCTGCACAGGATGACATTTTG -3'
(R):5'- AGCATTTTCAGGGACGTGG -3'

Sequencing Primer
(F):5'- CTGCACAGGATGACATTTTGGAAAC -3'
(R):5'- GAATGTCATTCATTGCCAACATGC -3'
Posted On 2015-07-06