Incidental Mutation 'IGL01160:Or52z1'
ID 53642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52z1
Ensembl Gene ENSMUSG00000047535
Gene Name olfactory receptor family 52 subfamily Z member 1
Synonyms GA_x6K02T2PBJ9-6515150-6514170, Olfr67, MOR31-1, 3'[b]1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01160
Quality Score
Status
Chromosome 7
Chromosomal Location 103436419-103441037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103436843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 214 (G214R)
Ref Sequence ENSEMBL: ENSMUSP00000138389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000183254]
AlphaFold F8VPJ8
Predicted Effect probably damaging
Transcript: ENSMUST00000062377
AA Change: G214R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091670
Gene: ENSMUSG00000047535
AA Change: G214R

DomainStartEndE-ValueType
Pfam:7tm_4 37 317 3.7e-114 PFAM
Pfam:7TM_GPCR_Srsx 41 231 5.5e-11 PFAM
Pfam:7tm_1 47 299 1.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183254
AA Change: G214R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138389
Gene: ENSMUSG00000047535
AA Change: G214R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 41 231 5.5e-11 PFAM
Pfam:7tm_1 47 299 2.7e-30 PFAM
Pfam:7tm_4 146 292 1.7e-29 PFAM
Coding Region Coverage
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
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fermt3 C T 19: 6,980,626 (GRCm39) probably null Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Gm3238 C A 10: 77,606,717 (GRCm39) probably benign Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Ighmbp2 G T 19: 3,326,750 (GRCm39) probably benign Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or2b4 A G 17: 38,116,941 (GRCm39) R302G probably benign Het
Or4c117 A T 2: 88,956,072 (GRCm39) M1K probably null Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pbsn T C X: 76,886,177 (GRCm39) N147S probably benign Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Or52z1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Or52z1 APN 7 103,437,285 (GRCm39) nonsense probably null 0.00
IGL02318:Or52z1 APN 7 103,437,475 (GRCm39) missense probably benign
R0413:Or52z1 UTSW 7 103,437,362 (GRCm39) missense probably damaging 1.00
R0964:Or52z1 UTSW 7 103,436,604 (GRCm39) missense probably benign 0.18
R2092:Or52z1 UTSW 7 103,437,279 (GRCm39) missense possibly damaging 0.50
R3963:Or52z1 UTSW 7 103,437,241 (GRCm39) missense probably benign 0.02
R4299:Or52z1 UTSW 7 103,437,202 (GRCm39) missense probably benign 0.38
R4799:Or52z1 UTSW 7 103,436,688 (GRCm39) missense possibly damaging 0.49
R5410:Or52z1 UTSW 7 103,436,581 (GRCm39) missense probably damaging 0.97
R5959:Or52z1 UTSW 7 103,436,723 (GRCm39) missense probably damaging 0.99
R6084:Or52z1 UTSW 7 103,437,162 (GRCm39) missense probably benign 0.11
R6336:Or52z1 UTSW 7 103,437,452 (GRCm39) missense possibly damaging 0.86
R7077:Or52z1 UTSW 7 103,436,593 (GRCm39) missense probably damaging 0.99
R7453:Or52z1 UTSW 7 103,436,879 (GRCm39) missense possibly damaging 0.90
R8695:Or52z1 UTSW 7 103,436,729 (GRCm39) missense possibly damaging 0.81
R8753:Or52z1 UTSW 7 103,436,567 (GRCm39) missense probably benign 0.08
R9062:Or52z1 UTSW 7 103,437,155 (GRCm39) missense probably benign 0.00
R9126:Or52z1 UTSW 7 103,437,002 (GRCm39) missense probably benign 0.27
R9741:Or52z1 UTSW 7 103,436,941 (GRCm39) missense probably benign 0.00
R9784:Or52z1 UTSW 7 103,436,732 (GRCm39) missense probably benign 0.02
Z1088:Or52z1 UTSW 7 103,436,572 (GRCm39) missense probably damaging 0.99
Z1176:Or52z1 UTSW 7 103,436,660 (GRCm39) missense probably benign 0.38
Posted On 2013-06-28