Incidental Mutation 'R8049:Or52h2'
ID 618930
Institutional Source Beutler Lab
Gene Symbol Or52h2
Ensembl Gene ENSMUSG00000044899
Gene Name olfactory receptor family 52 subfamily H member 2
Synonyms MOR31-7, GA_x6K02T2PBJ9-6924585-6923647, Olfr649
MMRRC Submission 067486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8049 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103838474-103839412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103839017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 132 (L132F)
Ref Sequence ENSEMBL: ENSMUSP00000102472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060440] [ENSMUST00000106859]
AlphaFold Q8VGW1
Predicted Effect probably damaging
Transcript: ENSMUST00000060440
AA Change: L132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050903
Gene: ENSMUSG00000044899
AA Change: L132F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 3.7e-30 PFAM
Pfam:7tm_4 142 287 4.7e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106859
AA Change: L132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102472
Gene: ENSMUSG00000044899
AA Change: L132F

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.9e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 5e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,992 (GRCm39) T69S probably benign Het
5730455P16Rik A G 11: 80,268,798 (GRCm39) S4P possibly damaging Het
Abca13 T A 11: 9,241,867 (GRCm39) N1243K probably damaging Het
Adgrg6 A T 10: 14,303,943 (GRCm39) S824T probably benign Het
Armh4 G T 14: 50,010,993 (GRCm39) A238E probably damaging Het
C3ar1 T A 6: 122,827,059 (GRCm39) Y386F probably damaging Het
Cdc14a T C 3: 116,087,577 (GRCm39) N527S probably benign Het
Cfap69 A T 5: 5,669,085 (GRCm39) probably benign Het
Col7a1 C T 9: 108,804,631 (GRCm39) P2279S unknown Het
Crb2 G A 2: 37,683,252 (GRCm39) G918D probably benign Het
Dcn C A 10: 97,349,479 (GRCm39) N250K probably damaging Het
Dctn5 G A 7: 121,732,466 (GRCm39) probably benign Het
Ddx55 T C 5: 124,694,821 (GRCm39) V83A probably damaging Het
Dnaja2 T A 8: 86,265,876 (GRCm39) H403L possibly damaging Het
Dpy19l4 T C 4: 11,303,982 (GRCm39) I143V probably benign Het
Efna5 G T 17: 62,957,977 (GRCm39) T93K probably benign Het
Eml6 A G 11: 29,843,201 (GRCm39) V171A possibly damaging Het
Esyt1 C G 10: 128,347,955 (GRCm39) V942L probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam78a C A 2: 31,973,035 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,892 (GRCm39) Y61H probably benign Het
Fbxw14 A T 9: 109,105,211 (GRCm39) M318K probably damaging Het
Gm14295 A G 2: 176,500,871 (GRCm39) I120M probably benign Het
Gm14403 T A 2: 177,200,311 (GRCm39) Y86N probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr55 T C 1: 85,869,419 (GRCm39) D54G probably benign Het
Gtf2b T G 3: 142,483,975 (GRCm39) S50A probably damaging Het
Ifit3 A T 19: 34,565,480 (GRCm39) E342V possibly damaging Het
Iqgap3 T A 3: 88,011,609 (GRCm39) I798N probably damaging Het
Kplce A T 3: 92,776,202 (GRCm39) Y160* probably null Het
Lpin1 T C 12: 16,613,685 (GRCm39) D494G Het
Lsm12 T C 11: 102,056,235 (GRCm39) E149G possibly damaging Het
Mtfr2 T C 10: 20,228,603 (GRCm39) S50P possibly damaging Het
Ndnf T C 6: 65,680,414 (GRCm39) M231T probably benign Het
Noc3l A T 19: 38,800,873 (GRCm39) V203E probably benign Het
Or1e27-ps1 G T 11: 73,555,988 (GRCm39) K184N possibly damaging Het
Or5c1 A T 2: 37,222,346 (GRCm39) T196S probably damaging Het
Or9r7 A T 10: 129,962,469 (GRCm39) Y152* probably null Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pde6b C T 5: 108,573,118 (GRCm39) P496L probably benign Het
Plppr1 A T 4: 49,300,942 (GRCm39) M92L probably benign Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Ptprk C G 10: 28,259,565 (GRCm39) S335C possibly damaging Het
Rars2 T A 4: 34,650,217 (GRCm39) M334K probably benign Het
Rasl10a A T 11: 5,009,823 (GRCm39) I124F probably damaging Het
Rgs12 T A 5: 35,183,374 (GRCm39) V1007E possibly damaging Het
Rnf122 T A 8: 31,618,608 (GRCm39) C119S probably damaging Het
Scn11a T A 9: 119,584,149 (GRCm39) I1489F probably damaging Het
Setd6 C A 8: 96,443,316 (GRCm39) S186R probably benign Het
Tex19.1 A G 11: 121,038,148 (GRCm39) T169A probably benign Het
Th G A 7: 142,447,860 (GRCm39) P408S probably damaging Het
Trappc13 T C 13: 104,281,052 (GRCm39) M337V probably benign Het
Treml2 A T 17: 48,609,762 (GRCm39) K65* probably null Het
Ubxn4 T C 1: 128,183,933 (GRCm39) S98P probably damaging Het
Wrnip1 A G 13: 33,005,960 (GRCm39) S601G probably benign Het
Zfp1006 A T 8: 129,946,555 (GRCm39) L90H probably damaging Het
Other mutations in Or52h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4403001:Or52h2 UTSW 7 103,838,667 (GRCm39) missense probably benign 0.24
R0285:Or52h2 UTSW 7 103,838,531 (GRCm39) nonsense probably null
R1203:Or52h2 UTSW 7 103,839,060 (GRCm39) nonsense probably null
R1448:Or52h2 UTSW 7 103,839,082 (GRCm39) missense possibly damaging 0.81
R4514:Or52h2 UTSW 7 103,838,598 (GRCm39) missense probably benign 0.00
R4925:Or52h2 UTSW 7 103,839,387 (GRCm39) missense possibly damaging 0.85
R6023:Or52h2 UTSW 7 103,838,880 (GRCm39) missense probably damaging 1.00
R7659:Or52h2 UTSW 7 103,839,394 (GRCm39) missense probably benign 0.33
R9115:Or52h2 UTSW 7 103,838,931 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- ACCCATACCAGATGTTGATGG -3'
(R):5'- TGGCCATGACTGACCTCATATTG -3'

Sequencing Primer
(F):5'- TGGAGATATCTGCACATGCC -3'
(R):5'- ATGACTGACCTCATATTGTCTACCAC -3'
Posted On 2020-01-23