Incidental Mutation 'R7994:Or52a5'
ID 651933
Institutional Source Beutler Lab
Gene Symbol Or52a5
Ensembl Gene ENSMUSG00000061626
Gene Name olfactory receptor family 52 subfamily A member 5
Synonyms Olfr68, MOR22-3, GA_x6K02T2PBJ9-6504436-6503489, 3'[b]2
MMRRC Submission 046035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7994 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103426603-103427550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103426607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 315 (H315L)
Ref Sequence ENSEMBL: ENSMUSP00000150493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072513] [ENSMUST00000216811]
AlphaFold E9PYY2
Predicted Effect probably benign
Transcript: ENSMUST00000072513
AA Change: H315L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000072329
Gene: ENSMUSG00000061626
AA Change: H315L

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 4.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.7e-6 PFAM
Pfam:7tm_1 43 295 2.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216811
AA Change: H315L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G C 5: 124,220,090 (GRCm39) F318L probably benign Het
Adad1 T C 3: 37,146,120 (GRCm39) I496T possibly damaging Het
Amotl1 T A 9: 14,504,657 (GRCm39) N184Y probably damaging Het
Asz1 T C 6: 18,054,640 (GRCm39) I388V probably benign Het
Brpf1 C G 6: 113,292,002 (GRCm39) H349Q probably damaging Het
Cebpz T C 17: 79,242,028 (GRCm39) D542G probably damaging Het
Cfap44 T C 16: 44,252,501 (GRCm39) V870A probably damaging Het
Cnga1 T A 5: 72,762,003 (GRCm39) I504F probably damaging Het
Col4a3 G A 1: 82,640,627 (GRCm39) G315D unknown Het
Commd10 A G 18: 47,091,986 (GRCm39) E11G possibly damaging Het
Coq9 A C 8: 95,579,785 (GRCm39) N247H probably benign Het
Cort A T 4: 149,209,762 (GRCm39) C97S probably damaging Het
Dclre1b T C 3: 103,710,702 (GRCm39) D403G probably damaging Het
Efcab8 G A 2: 153,625,724 (GRCm39) G128E Het
Ercc5 T C 1: 44,217,494 (GRCm39) S946P possibly damaging Het
Fam221b C T 4: 43,665,514 (GRCm39) V315M probably damaging Het
Fam3c T C 6: 22,308,459 (GRCm39) K245E probably damaging Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gadd45g T C 13: 52,001,803 (GRCm39) S123P possibly damaging Het
Gm49368 A G 7: 127,684,818 (GRCm39) D396G possibly damaging Het
Gsto1 G A 19: 47,847,899 (GRCm39) R132K probably benign Het
Gtf3c2 T C 5: 31,327,217 (GRCm39) I327V possibly damaging Het
Hipk2 T C 6: 38,795,403 (GRCm39) K289E possibly damaging Het
Igkv4-80 G T 6: 68,993,621 (GRCm39) T90N probably benign Het
Ilrun C A 17: 27,986,917 (GRCm39) A270S probably benign Het
Madcam1 A T 10: 79,504,069 (GRCm39) probably null Het
Mgat1 T C 11: 49,152,770 (GRCm39) Y418H probably damaging Het
Myh10 T C 11: 68,681,070 (GRCm39) probably null Het
Notch4 C A 17: 34,797,064 (GRCm39) H937Q possibly damaging Het
Npas2 G T 1: 39,367,418 (GRCm39) C313F possibly damaging Het
Nup93 A G 8: 95,032,930 (GRCm39) M565V probably benign Het
Or10al3 C T 17: 38,012,326 (GRCm39) T255I probably damaging Het
Or1x6 T G 11: 50,938,967 (GRCm39) V11G probably benign Het
Or56b2j T A 7: 104,353,635 (GRCm39) V287D probably damaging Het
Or6k4 G T 1: 173,964,273 (GRCm39) probably benign Het
Otop1 C T 5: 38,457,195 (GRCm39) T318I probably benign Het
Pcdhgb6 A G 18: 37,875,724 (GRCm39) E144G probably damaging Het
Plekha8 T C 6: 54,592,230 (GRCm39) L18P probably damaging Het
Ppp1r13b T C 12: 111,798,776 (GRCm39) D939G probably damaging Het
Prkag3 T A 1: 74,786,414 (GRCm39) Q177L probably benign Het
Rcor3 C A 1: 191,785,945 (GRCm39) S431I probably damaging Het
Scrib G A 15: 75,936,431 (GRCm39) T475I probably damaging Het
Serpinb1a T A 13: 33,027,033 (GRCm39) D303V probably damaging Het
Snrnp25 T A 11: 32,157,569 (GRCm39) V49E probably benign Het
Sobp A T 10: 42,897,163 (GRCm39) Y807* probably null Het
Spata31e4 T A 13: 50,856,900 (GRCm39) V846D probably benign Het
Srcap T C 7: 127,140,930 (GRCm39) V1570A probably benign Het
Srcin1 C T 11: 97,422,742 (GRCm39) V731M probably damaging Het
Syt2 A T 1: 134,675,330 (GRCm39) M394L possibly damaging Het
Tafa4 C T 6: 96,840,847 (GRCm39) E49K probably damaging Het
Tert T A 13: 73,797,074 (GRCm39) I1104N probably benign Het
Ttn T C 2: 76,621,439 (GRCm39) Y15667C probably damaging Het
Twnk A G 19: 44,996,277 (GRCm39) T237A probably benign Het
Zfp157 T A 5: 138,453,450 (GRCm39) probably null Het
Zfp503 C A 14: 22,035,074 (GRCm39) S614I probably damaging Het
Zswim8 T A 14: 20,758,072 (GRCm39) N52K possibly damaging Het
Other mutations in Or52a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Or52a5 APN 7 103,427,448 (GRCm39) missense probably benign
IGL03310:Or52a5 APN 7 103,426,634 (GRCm39) missense probably benign 0.04
R0135:Or52a5 UTSW 7 103,426,970 (GRCm39) missense probably damaging 0.99
R0462:Or52a5 UTSW 7 103,426,770 (GRCm39) missense probably benign 0.37
R0966:Or52a5 UTSW 7 103,426,656 (GRCm39) missense probably damaging 1.00
R1199:Or52a5 UTSW 7 103,427,192 (GRCm39) missense probably damaging 1.00
R1288:Or52a5 UTSW 7 103,427,249 (GRCm39) missense possibly damaging 0.94
R1597:Or52a5 UTSW 7 103,427,267 (GRCm39) missense probably benign
R4631:Or52a5 UTSW 7 103,426,682 (GRCm39) missense probably damaging 1.00
R4754:Or52a5 UTSW 7 103,426,875 (GRCm39) missense probably benign 0.00
R5184:Or52a5 UTSW 7 103,426,611 (GRCm39) missense probably benign 0.00
R5654:Or52a5 UTSW 7 103,427,182 (GRCm39) missense probably damaging 1.00
R8026:Or52a5 UTSW 7 103,427,547 (GRCm39) missense probably benign
R8190:Or52a5 UTSW 7 103,426,802 (GRCm39) missense probably damaging 1.00
R8502:Or52a5 UTSW 7 103,426,968 (GRCm39) missense probably benign
R8815:Or52a5 UTSW 7 103,427,063 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGAGTGTCAACCTGTTCCAAG -3'
(R):5'- ACCTGCATTGCTCACATCTGTG -3'

Sequencing Primer
(F):5'- GAGTGTCAACCTGTTCCAAGAATAG -3'
(R):5'- ACATCTGTGTCTTCCTGCAG -3'
Posted On 2020-09-15