Incidental Mutation 'R7077:Or52z1'
ID 549278
Institutional Source Beutler Lab
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
MMRRC Submission 045172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7077 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103436419-103441037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103436593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 297 (I297T)
Ref Sequence ENSEMBL: ENSMUSP00000138389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000183254]
AlphaFold F8VPJ8
Predicted Effect probably damaging
Transcript: ENSMUST00000183254
AA Change: I297T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138389
Gene: ENSMUSG00000047535
AA Change: I297T

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C T 12: 81,605,893 (GRCm39) C623Y probably damaging Het
Ago3 T C 4: 126,265,325 (GRCm39) K322R probably null Het
Ankrd17 T C 5: 90,433,723 (GRCm39) H682R possibly damaging Het
Aoah A G 13: 21,094,276 (GRCm39) D187G probably damaging Het
Arhgap17 T C 7: 122,879,231 (GRCm39) D840G unknown Het
AW551984 C T 9: 39,502,723 (GRCm39) V650I probably benign Het
Bok T A 1: 93,616,911 (GRCm39) Y86N probably damaging Het
Ccdc146 T A 5: 21,510,272 (GRCm39) N580I possibly damaging Het
Ccng2 T C 5: 93,417,199 (GRCm39) S72P possibly damaging Het
Cfap74 T G 4: 155,540,134 (GRCm39) I977S unknown Het
Cobl T C 11: 12,203,441 (GRCm39) N1087S probably benign Het
Cyp21a1 C A 17: 35,021,333 (GRCm39) R346L probably damaging Het
Eif4a1 A C 11: 69,561,490 (GRCm39) F52L probably damaging Het
Eif4ebp2 A C 10: 61,269,580 (GRCm39) I120S probably damaging Het
Enpp2 A C 15: 54,764,787 (GRCm39) D146E probably benign Het
Exosc9 T C 3: 36,607,205 (GRCm39) Y30H probably damaging Het
Fam117a G A 11: 95,268,498 (GRCm39) G300S probably benign Het
Focad C A 4: 88,328,914 (GRCm39) A1709E unknown Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fsip2 T C 2: 82,813,496 (GRCm39) F3272L probably benign Het
Gcnt2 G A 13: 41,013,896 (GRCm39) M22I probably benign Het
Gjd4 T C 18: 9,280,928 (GRCm39) E50G probably damaging Het
Gm10375 G T 14: 43,840,427 (GRCm39) T162K probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gm4924 T C 10: 82,215,057 (GRCm39) F952L unknown Het
Heatr1 T C 13: 12,433,045 (GRCm39) F1132L possibly damaging Het
Hnrnpu A G 1: 178,159,756 (GRCm39) Y442H unknown Het
Hp1bp3 C A 4: 137,966,929 (GRCm39) T408N probably damaging Het
Htra3 A G 5: 35,825,660 (GRCm39) V198A probably damaging Het
Katnal1 T C 5: 148,828,547 (GRCm39) T300A probably benign Het
Lipo5 G T 19: 33,445,170 (GRCm39) P133Q Het
Lrp1b A T 2: 41,660,858 (GRCm39) H197Q Het
Mdc1 C A 17: 36,156,839 (GRCm39) A82D probably damaging Het
Mstn A T 1: 53,103,408 (GRCm39) D248V probably benign Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ola1 G A 2: 72,972,308 (GRCm39) T221I probably damaging Het
Or5t7 T C 2: 86,507,236 (GRCm39) Y147C possibly damaging Het
Or7e166 T A 9: 19,624,428 (GRCm39) S102T probably benign Het
Or8c20 T A 9: 38,261,266 (GRCm39) Y290N probably damaging Het
Phldb1 T C 9: 44,623,201 (GRCm39) T618A possibly damaging Het
Pkd1 T G 17: 24,810,093 (GRCm39) W3565G probably damaging Het
Prl3a1 A T 13: 27,460,086 (GRCm39) N190I probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn11 C T 5: 121,281,633 (GRCm39) R484Q probably benign Het
Rapgef4 T C 2: 72,071,820 (GRCm39) M900T probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Smarcd3 G T 5: 24,799,960 (GRCm39) A270D probably damaging Het
Srgap2 A G 1: 131,272,187 (GRCm39) M33T Het
Tle1 G C 4: 72,076,612 (GRCm39) P139A probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tsbp1 C A 17: 34,659,856 (GRCm39) T93N possibly damaging Het
Zfp658 T A 7: 43,223,413 (GRCm39) S563T probably benign Het
Zswim9 G A 7: 12,993,679 (GRCm39) R826C probably damaging Het
Other mutations in Or52z1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Or52z1 APN 7 103,436,843 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- TCCTCTTGAAAGTGAAGCACTC -3'
(R):5'- ACACCATGATTCTTCGCACTG -3'

Sequencing Primer
(F):5'- CTATTCTCACAGGGATGACAT -3'
(R):5'- TTCCTGGGCTGCCAGATACAAG -3'
Posted On 2019-05-15