Incidental Mutation 'R4375:Or52ae7'
ID 325071
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 041119-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4375 (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: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,631,853 (GRCm39) probably benign Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Cntnap1 A G 11: 101,073,079 (GRCm39) D561G probably damaging Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Cyp4b1 T C 4: 115,493,510 (GRCm39) T191A probably benign Het
Dapk1 A T 13: 60,909,403 (GRCm39) M1339L probably benign Het
Dpm3 T C 3: 89,174,215 (GRCm39) Y59H probably damaging Het
Eif2ak4 A G 2: 118,258,405 (GRCm39) Y585C probably damaging Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Fam184b T C 5: 45,699,685 (GRCm39) D577G probably benign Het
Gon4l C A 3: 88,814,694 (GRCm39) P1888T probably benign Het
Hsf2bp C T 17: 32,206,322 (GRCm39) D270N probably null Het
Lactbl1 T C 4: 136,364,902 (GRCm39) V418A possibly damaging Het
Lifr A T 15: 7,196,379 (GRCm39) M188L probably benign Het
Ltbp1 G T 17: 75,619,992 (GRCm39) G760V probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Nlrp12 A G 7: 3,289,576 (GRCm39) L312P possibly damaging Het
Or1l4 T A 2: 37,091,574 (GRCm39) M107K probably benign Het
Or8c20 T C 9: 38,260,465 (GRCm39) F23L probably benign Het
Pcdh17 T C 14: 84,685,711 (GRCm39) V726A possibly damaging Het
Pdia4 G A 6: 47,775,326 (GRCm39) R495W probably damaging Het
Phf20l1 T C 15: 66,487,071 (GRCm39) S369P probably benign Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prcc A G 3: 87,774,714 (GRCm39) Y363H probably damaging Het
Proser3 A G 7: 30,240,096 (GRCm39) V336A possibly damaging Het
Rbbp8 C T 18: 11,858,467 (GRCm39) T646M probably benign Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Snx9 G A 17: 5,958,901 (GRCm39) W292* probably null Het
St14 T C 9: 31,001,754 (GRCm39) I784V probably benign Het
Steep1 C A X: 36,087,812 (GRCm39) C206F probably benign Het
Strc A G 2: 121,211,304 (GRCm39) S14P unknown Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ubap1 G A 4: 41,371,850 (GRCm39) probably null Het
Zfr T C 15: 12,118,426 (GRCm39) probably null 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
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'- CTGCTGCACAGGATGACATTTTG -3'
(R):5'- AGCATTTTCAGGGACGTGGAAC -3'

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