Incidental Mutation 'R7264:Or52z13'
ID 564815
Institutional Source Beutler Lab
Gene Symbol Or52z13
Ensembl Gene ENSMUSG00000073945
Gene Name olfactory receptor family 52 subfamily Z member 13
Synonyms MOR31-9, GA_x6K02T2PBJ9-6320148-6321104, Olfr618
MMRRC Submission 045354-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7264 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103246525-103247481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103246955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 144 (I144N)
Ref Sequence ENSEMBL: ENSMUSP00000151147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098197] [ENSMUST00000214883] [ENSMUST00000215732]
AlphaFold K7N6B3
Predicted Effect probably damaging
Transcript: ENSMUST00000098197
AA Change: I144N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095799
Gene: ENSMUSG00000073945
AA Change: I144N

DomainStartEndE-ValueType
Pfam:7tm_4 34 314 3.1e-109 PFAM
Pfam:7TM_GPCR_Srsx 38 311 6.3e-12 PFAM
Pfam:7tm_1 44 296 8.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214883
AA Change: I144N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000215732
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 C A 3: 105,812,141 (GRCm39) T9K probably benign Het
Ankib1 T A 5: 3,805,739 (GRCm39) N176I probably damaging Het
Ankle2 G A 5: 110,385,689 (GRCm39) G346D probably damaging Het
Anks1b T A 10: 90,348,732 (GRCm39) M800K probably benign Het
Arhgef16 C T 4: 154,365,387 (GRCm39) G576D probably damaging Het
C2cd2 C A 16: 97,677,419 (GRCm39) probably null Het
Cacna1c T C 6: 118,579,156 (GRCm39) N1847S Het
Camta1 A G 4: 151,537,856 (GRCm39) I108T probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Cep192 A G 18: 67,953,426 (GRCm39) Y481C probably damaging Het
Cep250 A G 2: 155,821,071 (GRCm39) E887G probably damaging Het
Clcn1 C A 6: 42,275,772 (GRCm39) A298D probably damaging Het
Col11a1 A G 3: 113,979,248 (GRCm39) N1305S unknown Het
Depdc5 T C 5: 33,125,089 (GRCm39) V1155A probably benign Het
Dnah1 A T 14: 30,991,851 (GRCm39) D3050E probably benign Het
Dnah7a T C 1: 53,557,973 (GRCm39) D2147G probably benign Het
Fbxl4 T C 4: 22,386,145 (GRCm39) Y251H possibly damaging Het
Gm19410 A G 8: 36,252,920 (GRCm39) M622V probably benign Het
Gm3402 T A 5: 146,451,472 (GRCm39) M110K probably damaging Het
Gm8257 T A 14: 44,893,817 (GRCm39) E82D probably damaging Het
Gne T A 4: 44,042,175 (GRCm39) I498F probably damaging Het
Grep1 A G 17: 23,931,308 (GRCm39) S200P not run Het
Gstcd C T 3: 132,790,540 (GRCm39) V76I probably benign Het
Hgs G T 11: 120,365,139 (GRCm39) V176L probably benign Het
Hrob T A 11: 102,146,422 (GRCm39) C233S probably benign Het
Igbp1b T C 6: 138,635,108 (GRCm39) N112S possibly damaging Het
Itga11 A T 9: 62,653,190 (GRCm39) T355S probably benign Het
Lama1 A T 17: 68,050,292 (GRCm39) H301L Het
Lhx9 T C 1: 138,760,489 (GRCm39) D296G probably damaging Het
Lrp1 C T 10: 127,427,962 (GRCm39) G537D probably damaging Het
Mroh2b A G 15: 4,950,844 (GRCm39) I581V possibly damaging Het
Mrps36 A G 13: 100,875,707 (GRCm39) S36P probably benign Het
Plcb4 A T 2: 135,807,000 (GRCm39) N547I probably benign Het
Plch2 T A 4: 155,083,424 (GRCm39) M505L probably damaging Het
Prg4 T A 1: 150,329,818 (GRCm39) N154Y not run Het
Rev1 A T 1: 38,124,682 (GRCm39) V420D probably damaging Het
Rin3 A G 12: 102,356,374 (GRCm39) I972V probably benign Het
Rtel1 T C 2: 180,993,654 (GRCm39) L775P not run Het
Scarf2 G T 16: 17,621,154 (GRCm39) C274F possibly damaging Het
Serinc2 C T 4: 130,152,052 (GRCm39) V271I probably benign Het
Slpi C A 2: 164,198,322 (GRCm39) probably benign Het
Spopfm1 C T 3: 94,173,045 (GRCm39) H14Y possibly damaging Het
Stxbp6 T C 12: 44,948,782 (GRCm39) D109G probably damaging Het
Tmem74 G A 15: 43,730,864 (GRCm39) L60F probably benign Het
Trhde C T 10: 114,636,776 (GRCm39) G144S possibly damaging Het
Trrap T C 5: 144,751,333 (GRCm39) S1610P probably benign Het
Ttc33 C T 15: 5,246,718 (GRCm39) Q175* probably null Het
Usp34 A G 11: 23,283,566 (GRCm39) T106A probably benign Het
Vmn1r204 A G 13: 22,741,167 (GRCm39) D266G probably benign Het
Wdfy3 C A 5: 102,003,389 (GRCm39) A2905S probably benign Het
Wfs1 A G 5: 37,125,190 (GRCm39) L567P probably damaging Het
Zfp42 T C 8: 43,749,312 (GRCm39) E63G probably damaging Het
Zfp957 A G 14: 79,451,080 (GRCm39) F240L probably damaging Het
Zgrf1 A T 3: 127,357,218 (GRCm39) M815L probably benign Het
Other mutations in Or52z13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or52z13 APN 7 103,247,369 (GRCm39) missense possibly damaging 0.65
IGL00963:Or52z13 APN 7 103,246,844 (GRCm39) splice site probably null
IGL01772:Or52z13 APN 7 103,247,120 (GRCm39) missense probably benign 0.12
IGL02014:Or52z13 APN 7 103,246,937 (GRCm39) missense probably damaging 1.00
IGL03409:Or52z13 APN 7 103,246,574 (GRCm39) missense possibly damaging 0.51
R0087:Or52z13 UTSW 7 103,246,928 (GRCm39) missense probably benign 0.44
R0831:Or52z13 UTSW 7 103,247,338 (GRCm39) missense probably benign 0.02
R1779:Or52z13 UTSW 7 103,247,107 (GRCm39) missense probably damaging 1.00
R1909:Or52z13 UTSW 7 103,246,550 (GRCm39) missense probably benign 0.01
R5903:Or52z13 UTSW 7 103,247,128 (GRCm39) nonsense probably null
R5952:Or52z13 UTSW 7 103,247,174 (GRCm39) missense probably damaging 1.00
R6328:Or52z13 UTSW 7 103,247,073 (GRCm39) missense probably damaging 1.00
R7573:Or52z13 UTSW 7 103,246,735 (GRCm39) missense probably benign 0.08
R7870:Or52z13 UTSW 7 103,247,473 (GRCm39) missense probably damaging 1.00
R8394:Or52z13 UTSW 7 103,247,404 (GRCm39) missense probably damaging 1.00
R8833:Or52z13 UTSW 7 103,247,444 (GRCm39) missense possibly damaging 0.75
R9563:Or52z13 UTSW 7 103,247,225 (GRCm39) missense probably benign
R9601:Or52z13 UTSW 7 103,246,598 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- ACCACGCCAAAAGTTCTTGC -3'
(R):5'- CTAGGCCTATGGAAAATAAAGGCAC -3'

Sequencing Primer
(F):5'- CAAAAGTTCTTGCCATCTTTTGG -3'
(R):5'- TGGAAAATAAAGGCACAGTCATTCC -3'
Posted On 2019-06-26