Incidental Mutation 'R8430:Or52ab4'
ID 653708
Institutional Source Beutler Lab
Gene Symbol Or52ab4
Ensembl Gene ENSMUSG00000073950
Gene Name olfactory receptor family 52 subfamily AB member 4
Synonyms Olfr599, MOR23-1, GA_x6K02T2PBJ9-6047402-6048349
MMRRC Submission 067775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102987219-102988268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102988164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 301 (R301L)
Ref Sequence ENSEMBL: ENSMUSP00000149281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329] [ENSMUST00000215042]
AlphaFold Q8VG01
Predicted Effect probably benign
Transcript: ENSMUST00000098201
AA Change: R301L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: R301L

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.8e-94 PFAM
Pfam:7TM_GPCR_Srsx 37 308 1.2e-6 PFAM
Pfam:7tm_1 43 293 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214329
AA Change: R301L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000215042
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,078,981 (GRCm39) T677I probably benign Het
Adh4 T G 3: 138,128,145 (GRCm39) N190K probably damaging Het
Ahnak2 A T 12: 112,741,121 (GRCm39) S984T possibly damaging Het
Aknad1 A G 3: 108,659,037 (GRCm39) D17G possibly damaging Het
Ankrd11 T C 8: 123,620,105 (GRCm39) N1249S probably benign Het
Ankrd31 A G 13: 96,988,199 (GRCm39) K1071E possibly damaging Het
Atp1a3 A G 7: 24,698,437 (GRCm39) L120P probably damaging Het
AU040320 C A 4: 126,742,693 (GRCm39) A986E possibly damaging Het
Camkv T C 9: 107,824,968 (GRCm39) M323T probably damaging Het
Cdh18 T G 15: 23,226,770 (GRCm39) L77R probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Cpeb3 A T 19: 37,002,406 (GRCm39) F669I probably damaging Het
Cramp1 A T 17: 25,196,536 (GRCm39) H859Q probably damaging Het
Csnk1g1 C A 9: 65,906,803 (GRCm39) T140K probably damaging Het
Ctnnbl1 A G 2: 157,678,603 (GRCm39) E402G probably damaging Het
Cyp20a1 T C 1: 60,402,488 (GRCm39) V191A possibly damaging Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Fgfr2 T C 7: 129,765,708 (GRCm39) N835S probably damaging Het
Fggy GCACCA GCA 4: 95,815,002 (GRCm39) probably benign Het
Gpatch1 G A 7: 35,007,634 (GRCm39) T142M probably damaging Het
Gtf3c2 G A 5: 31,330,403 (GRCm39) A189V probably damaging Het
Heatr5b T C 17: 79,137,053 (GRCm39) I156V probably damaging Het
Itpka T A 2: 119,580,035 (GRCm39) V258E probably damaging Het
Klhdc4 A G 8: 122,526,252 (GRCm39) S327P possibly damaging Het
L1td1 C T 4: 98,626,109 (GRCm39) T702I probably damaging Het
Lap3 A G 5: 45,654,726 (GRCm39) D110G probably benign Het
Mab21l1 C A 3: 55,690,830 (GRCm39) A139E probably damaging Het
Myo15b G A 11: 115,773,049 (GRCm39) V173M probably benign Het
Or12e1 T G 2: 87,022,564 (GRCm39) S178A possibly damaging Het
Or2a57 G A 6: 43,212,894 (GRCm39) M117I probably benign Het
Or5m10b A T 2: 85,699,526 (GRCm39) M197L probably benign Het
Rdh7 A G 10: 127,723,495 (GRCm39) I120T probably benign Het
Rsph3a G T 17: 8,171,403 (GRCm39) G173W probably damaging Het
Sec22b T C 3: 97,828,546 (GRCm39) F203S probably benign Het
Sulf2 C T 2: 165,916,736 (GRCm39) G867E probably benign Het
Tia1 A T 6: 86,395,906 (GRCm39) D90V probably benign Het
Tiam2 A G 17: 3,568,537 (GRCm39) D1561G probably benign Het
Trav9d-1 A G 14: 53,030,217 (GRCm39) Y107C probably damaging Het
Trim32 T C 4: 65,532,943 (GRCm39) V500A probably damaging Het
Ube2f G A 1: 91,181,989 (GRCm39) probably benign Het
Ulk4 C T 9: 121,086,144 (GRCm39) probably null Het
Zfp940 A G 7: 29,544,771 (GRCm39) F379L probably benign Het
Other mutations in Or52ab4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Or52ab4 APN 7 102,987,974 (GRCm39) nonsense probably null
IGL01744:Or52ab4 APN 7 102,987,435 (GRCm39) missense probably damaging 0.98
IGL02011:Or52ab4 APN 7 102,988,056 (GRCm39) missense probably damaging 0.98
IGL02328:Or52ab4 APN 7 102,987,497 (GRCm39) missense probably damaging 1.00
IGL02630:Or52ab4 APN 7 102,987,636 (GRCm39) missense probably damaging 1.00
IGL03119:Or52ab4 APN 7 102,987,929 (GRCm39) missense probably damaging 1.00
PIT4468001:Or52ab4 UTSW 7 102,987,807 (GRCm39) missense probably damaging 1.00
R0599:Or52ab4 UTSW 7 102,987,393 (GRCm39) missense probably damaging 1.00
R4084:Or52ab4 UTSW 7 102,987,527 (GRCm39) missense probably damaging 0.99
R5068:Or52ab4 UTSW 7 102,987,229 (GRCm39) start gained probably null
R5069:Or52ab4 UTSW 7 102,987,229 (GRCm39) start gained probably null
R5280:Or52ab4 UTSW 7 102,987,708 (GRCm39) missense probably benign
R5816:Or52ab4 UTSW 7 102,988,202 (GRCm39) missense probably benign 0.00
R6560:Or52ab4 UTSW 7 102,987,945 (GRCm39) missense probably benign 0.02
R7001:Or52ab4 UTSW 7 102,987,428 (GRCm39) missense possibly damaging 0.51
R7890:Or52ab4 UTSW 7 102,987,537 (GRCm39) missense probably benign
R8295:Or52ab4 UTSW 7 102,987,474 (GRCm39) missense probably benign 0.08
R8946:Or52ab4 UTSW 7 102,987,573 (GRCm39) missense probably damaging 1.00
R9045:Or52ab4 UTSW 7 102,987,903 (GRCm39) missense probably damaging 0.99
R9402:Or52ab4 UTSW 7 102,988,196 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGGCTGTAGTCAAGCTGGC -3'
(R):5'- TCCCATGCTGACTGGTTTTG -3'

Sequencing Primer
(F):5'- GCATTCAACACTTGTACGGC -3'
(R):5'- GTCTTGAGAATATAGACTGGCTTTTC -3'
Posted On 2020-10-20