Incidental Mutation 'R6797:Or52ab7'
ID 533052
Institutional Source Beutler Lab
Gene Symbol Or52ab7
Ensembl Gene ENSMUSG00000073951
Gene Name olfactory receptor family 52 subfamily AB member 7
Synonyms MOR23-4P, GA_x6K02T2PBJ9-6037823-6038782, MOR23-5, Olfr598
MMRRC Submission 044910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R6797 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102977695-102978654 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102978328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 212 (V212I)
Ref Sequence ENSEMBL: ENSMUSP00000149199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098202] [ENSMUST00000214765]
AlphaFold Q7TRR2
Predicted Effect probably benign
Transcript: ENSMUST00000098202
AA Change: V212I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: V212I

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 2.3e-89 PFAM
Pfam:7TM_GPCR_Srsx 41 312 9e-7 PFAM
Pfam:7tm_1 47 297 2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214765
AA Change: V212I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c18 T A 13: 4,195,276 (GRCm39) I61L probably benign Het
Angptl2 T C 2: 33,118,277 (GRCm39) V17A probably benign Het
Casp14 T C 10: 78,550,975 (GRCm39) D70G possibly damaging Het
Cckbr A G 7: 105,083,773 (GRCm39) M234V possibly damaging Het
Cd93 T C 2: 148,284,044 (GRCm39) N434S probably benign Het
Cenpe A T 3: 134,943,899 (GRCm39) Q938L possibly damaging Het
Col6a3 A C 1: 90,731,810 (GRCm39) V1481G probably damaging Het
Dnah5 G T 15: 28,233,384 (GRCm39) E248* probably null Het
Dnah5 G A 15: 28,451,609 (GRCm39) R4349Q probably damaging Het
F11 A G 8: 45,706,092 (GRCm39) Y98H probably benign Het
Fen1 A G 19: 10,178,067 (GRCm39) F126L probably benign Het
Gpr146 G A 5: 139,378,795 (GRCm39) G199D possibly damaging Het
Gramd1b A G 9: 40,219,702 (GRCm39) I324T probably benign Het
H2bc12 A T 13: 22,220,259 (GRCm39) N68I probably benign Het
Hivep1 C A 13: 42,310,557 (GRCm39) S932R probably benign Het
Hk3 A T 13: 55,158,644 (GRCm39) probably null Het
Hspbp1 T A 7: 4,663,781 (GRCm39) M355L possibly damaging Het
Jaml T C 9: 45,000,058 (GRCm39) C77R probably damaging Het
Kmt2e A G 5: 23,687,505 (GRCm39) N452D possibly damaging Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Lipn A T 19: 34,058,160 (GRCm39) M294L probably benign Het
Magel2 A G 7: 62,029,907 (GRCm39) E937G unknown Het
Med13l G A 5: 118,897,329 (GRCm39) probably null Het
Mrgprb8 G A 7: 48,038,892 (GRCm39) V188I probably benign Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Ofcc1 C T 13: 40,241,423 (GRCm39) R695Q possibly damaging Het
Or11h23 T A 14: 50,948,563 (GRCm39) Y259N probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pak5 A T 2: 135,939,454 (GRCm39) H560Q probably damaging Het
Pigg T C 5: 108,480,694 (GRCm39) S493P probably damaging Het
Ppp6r3 A G 19: 3,564,719 (GRCm39) W185R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sacs T A 14: 61,450,522 (GRCm39) D4189E probably damaging Het
Serpinb9b A G 13: 33,213,467 (GRCm39) N8S possibly damaging Het
Slit3 A G 11: 35,524,779 (GRCm39) T730A possibly damaging Het
Srgap3 A T 6: 112,806,503 (GRCm39) F53I probably damaging Het
Stc2 T A 11: 31,315,351 (GRCm39) K163* probably null Het
Tasor2 T C 13: 3,626,769 (GRCm39) I1060M probably benign Het
Tlk1 T A 2: 70,568,770 (GRCm39) K411* probably null Het
Ttc27 G T 17: 75,036,883 (GRCm39) L185F probably benign Het
Vmn2r102 C T 17: 19,880,694 (GRCm39) Q12* probably null Het
Vmn2r95 C T 17: 18,672,551 (GRCm39) probably benign Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Wdr64 T A 1: 175,638,176 (GRCm39) probably null Het
Other mutations in Or52ab7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Or52ab7 APN 7 102,978,528 (GRCm39) missense probably damaging 1.00
IGL01911:Or52ab7 APN 7 102,978,480 (GRCm39) missense probably benign 0.30
IGL02225:Or52ab7 APN 7 102,978,373 (GRCm39) missense probably damaging 1.00
IGL02687:Or52ab7 APN 7 102,978,607 (GRCm39) nonsense probably null
IGL03214:Or52ab7 APN 7 102,977,873 (GRCm39) missense possibly damaging 0.95
R0544:Or52ab7 UTSW 7 102,977,858 (GRCm39) missense probably damaging 1.00
R0555:Or52ab7 UTSW 7 102,978,170 (GRCm39) missense probably benign
R1081:Or52ab7 UTSW 7 102,978,245 (GRCm39) missense probably damaging 1.00
R1802:Or52ab7 UTSW 7 102,977,854 (GRCm39) missense probably benign 0.09
R2092:Or52ab7 UTSW 7 102,978,316 (GRCm39) missense probably damaging 1.00
R2197:Or52ab7 UTSW 7 102,977,831 (GRCm39) nonsense probably null
R3974:Or52ab7 UTSW 7 102,978,285 (GRCm39) missense probably damaging 0.98
R4227:Or52ab7 UTSW 7 102,978,026 (GRCm39) missense probably damaging 0.97
R4809:Or52ab7 UTSW 7 102,977,730 (GRCm39) nonsense probably null
R4977:Or52ab7 UTSW 7 102,978,040 (GRCm39) missense probably benign 0.00
R5324:Or52ab7 UTSW 7 102,978,257 (GRCm39) missense probably damaging 1.00
R5478:Or52ab7 UTSW 7 102,978,032 (GRCm39) missense probably damaging 1.00
R6238:Or52ab7 UTSW 7 102,978,115 (GRCm39) missense possibly damaging 0.95
R7062:Or52ab7 UTSW 7 102,978,293 (GRCm39) missense probably benign 0.10
R7079:Or52ab7 UTSW 7 102,978,391 (GRCm39) missense probably benign 0.00
R7539:Or52ab7 UTSW 7 102,977,701 (GRCm39) missense probably benign 0.01
R8669:Or52ab7 UTSW 7 102,978,281 (GRCm39) missense probably benign 0.00
R8854:Or52ab7 UTSW 7 102,978,023 (GRCm39) missense probably damaging 0.98
R8878:Or52ab7 UTSW 7 102,978,212 (GRCm39) missense possibly damaging 0.67
R9297:Or52ab7 UTSW 7 102,978,583 (GRCm39) missense probably damaging 1.00
R9318:Or52ab7 UTSW 7 102,978,583 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-08-29