Incidental Mutation 'R1054:Or52h1'
ID 94190
Institutional Source Beutler Lab
Gene Symbol Or52h1
Ensembl Gene ENSMUSG00000042909
Gene Name olfactory receptor family 52 subfamily H member 1
Synonyms Olfr648, GA_x6K02T2PBJ9-6914780-6913830, MOR31-12
MMRRC Submission 039144-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R1054 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103828663-103829613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103829498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 39 (I39T)
Ref Sequence ENSEMBL: ENSMUSP00000149047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052659] [ENSMUST00000216612]
AlphaFold Q8VG19
Predicted Effect probably benign
Transcript: ENSMUST00000052659
AA Change: I39T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: I39T

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 309 7.7e-7 PFAM
Pfam:7tm_1 43 294 3.1e-17 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: I39T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 309 1.1e-8 PFAM
Pfam:7tm_1 43 294 3.6e-28 PFAM
Pfam:7tm_4 141 287 1.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216612
AA Change: I39T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,635,759 (GRCm39) T159A probably benign Het
Arhgef38 T C 3: 132,822,226 (GRCm39) Y763C probably damaging Het
Arv1 T A 8: 125,458,611 (GRCm39) F245Y probably benign Het
Ccdc175 A G 12: 72,225,318 (GRCm39) I113T possibly damaging Het
Cdc42bpb A T 12: 111,279,787 (GRCm39) M932K probably benign Het
Cdh15 T C 8: 123,591,076 (GRCm39) F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 (GRCm39) D105N probably damaging Het
Cpne4 A G 9: 104,899,600 (GRCm39) T428A probably benign Het
Cramp1 T A 17: 25,202,151 (GRCm39) I444F probably damaging Het
Dhx32 T A 7: 133,327,001 (GRCm39) K360M probably damaging Het
Dna2 T A 10: 62,799,602 (GRCm39) C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 141,635,804 (GRCm39) probably benign Het
Eif3f G A 7: 108,537,024 (GRCm39) probably null Het
Elmod1 T C 9: 53,820,058 (GRCm39) D310G probably benign Het
Fn1 A G 1: 71,625,373 (GRCm39) *2272Q probably null Het
Gnat1 A G 9: 107,554,638 (GRCm39) S76P probably damaging Het
Gtf2f2 T C 14: 76,232,885 (GRCm39) T94A probably benign Het
Hacd4 A T 4: 88,341,264 (GRCm39) W152R probably damaging Het
Kcnh8 A G 17: 53,110,512 (GRCm39) Y241C probably damaging Het
Lepr T C 4: 101,639,793 (GRCm39) I753T probably damaging Het
Med12l C T 3: 59,156,072 (GRCm39) H1162Y probably damaging Het
Med25 C T 7: 44,529,804 (GRCm39) A485T probably benign Het
Mup5 A T 4: 61,750,871 (GRCm39) S145R probably benign Het
Myo1g A G 11: 6,468,987 (GRCm39) V105A probably damaging Het
Npc2 A G 12: 84,807,492 (GRCm39) probably null Het
Or6p1 A G 1: 174,258,419 (GRCm39) T142A probably benign Het
Otulinl T C 15: 27,664,635 (GRCm39) R79G probably damaging Het
Pdzd2 A G 15: 12,371,725 (GRCm39) S2557P probably damaging Het
Pop1 T C 15: 34,509,955 (GRCm39) V353A probably benign Het
Pou3f2 A G 4: 22,487,536 (GRCm39) V199A possibly damaging Het
Pramel18 A G 4: 101,766,361 (GRCm39) E15G probably benign Het
Ptprm A T 17: 67,349,313 (GRCm39) N43K probably damaging Het
Qrsl1 C T 10: 43,758,077 (GRCm39) D339N probably damaging Het
Rpl13-ps3 C A 14: 59,131,394 (GRCm39) noncoding transcript Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr16c6 A G 4: 4,069,908 (GRCm39) V144A probably damaging Het
Spata31d1b C A 13: 59,865,332 (GRCm39) H827N probably damaging Het
Spata31e4 T C 13: 50,856,432 (GRCm39) V690A probably benign Het
Taf4b T A 18: 14,954,530 (GRCm39) H535Q probably benign Het
Timmdc1 A G 16: 38,342,790 (GRCm39) V36A probably benign Het
Tmem74b C T 2: 151,548,339 (GRCm39) A22V probably benign Het
Txnrd3 T A 6: 89,627,543 (GRCm39) Y65* probably null Het
Vmn1r200 T A 13: 22,579,624 (GRCm39) S133R probably damaging Het
Vwf G A 6: 125,567,190 (GRCm39) C311Y probably damaging Het
Wipf2 G A 11: 98,787,141 (GRCm39) R390H possibly damaging Het
Zfp282 T A 6: 47,881,533 (GRCm39) S407T probably benign Het
Other mutations in Or52h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Or52h1 APN 7 103,829,432 (GRCm39) missense probably damaging 1.00
IGL02488:Or52h1 APN 7 103,829,478 (GRCm39) missense possibly damaging 0.66
IGL02956:Or52h1 APN 7 103,829,334 (GRCm39) missense probably damaging 1.00
R0001:Or52h1 UTSW 7 103,828,680 (GRCm39) nonsense probably null
R0057:Or52h1 UTSW 7 103,829,536 (GRCm39) missense probably benign 0.13
R1262:Or52h1 UTSW 7 103,828,623 (GRCm39) splice site probably null
R4589:Or52h1 UTSW 7 103,828,636 (GRCm39) splice site probably null
R4975:Or52h1 UTSW 7 103,828,736 (GRCm39) missense probably damaging 1.00
R5068:Or52h1 UTSW 7 103,829,448 (GRCm39) missense probably damaging 1.00
R5643:Or52h1 UTSW 7 103,829,091 (GRCm39) missense probably benign 0.00
R6195:Or52h1 UTSW 7 103,828,961 (GRCm39) missense possibly damaging 0.78
R6211:Or52h1 UTSW 7 103,828,954 (GRCm39) nonsense probably null
R6233:Or52h1 UTSW 7 103,828,961 (GRCm39) missense possibly damaging 0.78
R6259:Or52h1 UTSW 7 103,829,261 (GRCm39) missense possibly damaging 0.53
R7138:Or52h1 UTSW 7 103,829,504 (GRCm39) missense probably damaging 1.00
R7357:Or52h1 UTSW 7 103,828,978 (GRCm39) missense probably damaging 1.00
R7570:Or52h1 UTSW 7 103,828,955 (GRCm39) missense probably damaging 1.00
R8352:Or52h1 UTSW 7 103,829,103 (GRCm39) missense probably damaging 1.00
R8452:Or52h1 UTSW 7 103,829,103 (GRCm39) missense probably damaging 1.00
R8712:Or52h1 UTSW 7 103,829,025 (GRCm39) missense probably damaging 1.00
R8937:Or52h1 UTSW 7 103,828,949 (GRCm39) missense possibly damaging 0.88
X0018:Or52h1 UTSW 7 103,828,797 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCCACAGCAATCTTGACGATAG -3'
(R):5'- TCCAGAGCTGCTGAATGTTGTTACC -3'

Sequencing Primer
(F):5'- CAGCAATCTTGACGATAGTCTTGG -3'
(R):5'- GCTGCTGAATGTTGTTACCATTTTC -3'
Posted On 2014-01-05