Incidental Mutation 'R6904:Or52z12'
ID 538683
Institutional Source Beutler Lab
Gene Symbol Or52z12
Ensembl Gene ENSMUSG00000073946
Gene Name olfactory receptor family 52 subfamily Z member 12
Synonyms GA_x6K02T2PBJ9-6306819-6307775, Olfr617, MOR31-10
MMRRC Submission 045033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6904 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103233231-103234187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103233727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 166 (I166N)
Ref Sequence ENSEMBL: ENSMUSP00000149045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048265] [ENSMUST00000215755] [ENSMUST00000216516]
AlphaFold Q8VGA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000048265
AA Change: I166N

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: I166N

Pfam:7tm_4 37 316 8.5e-109 PFAM
Pfam:7TM_GPCR_Srsx 41 225 2.3e-10 PFAM
Pfam:7tm_1 47 299 4.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215755
AA Change: I166N

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216516
AA Change: I166N

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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
2610021A01Rik T A 7: 41,275,516 (GRCm39) Y406* probably null Het
Acadvl T C 11: 69,905,159 (GRCm39) D109G probably benign Het
Adam24 G A 8: 41,134,542 (GRCm39) G670E probably damaging Het
Angpt1 T C 15: 42,323,136 (GRCm39) M378V probably benign Het
Ankrd33 G A 15: 101,014,993 (GRCm39) probably null Het
Apol7b G A 15: 77,307,625 (GRCm39) T290I probably benign Het
Atg4a-ps A G 3: 103,553,180 (GRCm39) W54R probably damaging Het
B3glct A G 5: 149,663,069 (GRCm39) probably null Het
Bmp7 A G 2: 172,714,706 (GRCm39) S368P probably damaging Het
Boc A G 16: 44,312,154 (GRCm39) V636A probably damaging Het
Cacna1i G A 15: 80,259,002 (GRCm39) R1237H probably damaging Het
Cdcp1 T C 9: 123,002,980 (GRCm39) D697G probably benign Het
Cep85l T C 10: 53,225,194 (GRCm39) T132A probably benign Het
Ces1b T A 8: 93,787,038 (GRCm39) Y447F probably damaging Het
Cfhr4 T G 1: 139,659,391 (GRCm39) N642H possibly damaging Het
Cntn4 A T 6: 106,674,544 (GRCm39) T1015S probably benign Het
Eea1 T G 10: 95,838,741 (GRCm39) probably null Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Hipk1 A T 3: 103,684,828 (GRCm39) N262K possibly damaging Het
Jmjd8 G A 17: 26,048,026 (GRCm39) R41H possibly damaging Het
Klhl3 T A 13: 58,178,259 (GRCm39) T344S probably damaging Het
Krt39 T C 11: 99,410,647 (GRCm39) D175G probably damaging Het
Map4k1 A G 7: 28,686,227 (GRCm39) Y81C probably damaging Het
Mpdu1 T A 11: 69,549,411 (GRCm39) T95S probably benign Het
Myl12b A T 17: 71,284,135 (GRCm39) I31N probably damaging Het
Ndufaf5 T A 2: 140,030,700 (GRCm39) Y195* probably null Het
Or4c119 G A 2: 88,987,157 (GRCm39) R121C possibly damaging Het
Or4d5 T C 9: 40,012,652 (GRCm39) I45V probably benign Het
Or51v15-ps1 A T 7: 103,278,790 (GRCm39) F126I probably benign Het
Or5w17 A G 2: 87,584,223 (GRCm39) V38A probably benign Het
Oxgr1 T A 14: 120,259,431 (GRCm39) I259F possibly damaging Het
Pcdhb9 T A 18: 37,534,970 (GRCm39) D321E probably benign Het
Pi4kb G T 3: 94,900,461 (GRCm39) R392L probably damaging Het
Pramel18 G A 4: 101,767,291 (GRCm39) C180Y possibly damaging Het
Prss41 T C 17: 24,056,622 (GRCm39) K151R probably benign Het
Rev3l T A 10: 39,697,477 (GRCm39) V658D probably benign Het
Snx4 A G 16: 33,115,108 (GRCm39) I430V probably damaging Het
Tanc2 C T 11: 105,726,056 (GRCm39) H407Y possibly damaging Het
Tcf25 G A 8: 124,127,437 (GRCm39) probably null Het
Tsc22d1 A T 14: 76,743,923 (GRCm39) K24* probably null Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Xrcc6 A G 15: 81,913,323 (GRCm39) T319A probably benign Het
Zbtb1 C T 12: 76,432,985 (GRCm39) R324* probably null Het
Zc3h7a A G 16: 10,963,535 (GRCm39) Y729H probably damaging Het
Zfp329 C A 7: 12,540,457 (GRCm39) probably benign Het
Zfp456 A T 13: 67,514,384 (GRCm39) S441T probably benign Het
Other mutations in Or52z12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Or52z12 APN 7 103,233,900 (GRCm39) missense probably damaging 1.00
IGL01355:Or52z12 APN 7 103,233,580 (GRCm39) missense probably damaging 1.00
IGL01411:Or52z12 APN 7 103,233,324 (GRCm39) missense probably damaging 1.00
IGL01412:Or52z12 APN 7 103,234,114 (GRCm39) missense probably damaging 1.00
IGL02379:Or52z12 APN 7 103,234,099 (GRCm39) missense possibly damaging 0.84
ANU23:Or52z12 UTSW 7 103,233,900 (GRCm39) missense probably damaging 1.00
IGL03054:Or52z12 UTSW 7 103,234,047 (GRCm39) missense probably benign 0.23
R0536:Or52z12 UTSW 7 103,233,468 (GRCm39) missense probably damaging 1.00
R4222:Or52z12 UTSW 7 103,233,966 (GRCm39) missense probably damaging 1.00
R4224:Or52z12 UTSW 7 103,233,966 (GRCm39) missense probably damaging 1.00
R5342:Or52z12 UTSW 7 103,234,035 (GRCm39) missense probably benign 0.05
R5587:Or52z12 UTSW 7 103,233,738 (GRCm39) missense probably benign 0.07
R5607:Or52z12 UTSW 7 103,233,506 (GRCm39) nonsense probably null
R5608:Or52z12 UTSW 7 103,233,506 (GRCm39) nonsense probably null
R6929:Or52z12 UTSW 7 103,233,651 (GRCm39) missense probably damaging 0.98
R7399:Or52z12 UTSW 7 103,233,588 (GRCm39) missense possibly damaging 0.78
R7607:Or52z12 UTSW 7 103,234,137 (GRCm39) missense probably damaging 0.97
R7771:Or52z12 UTSW 7 103,233,297 (GRCm39) missense probably benign 0.33
Z1177:Or52z12 UTSW 7 103,234,154 (GRCm39) missense probably benign
Z1177:Or52z12 UTSW 7 103,233,906 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-06