Incidental Mutation 'R5952:Or52z13'
ID 470950
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 044142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5952 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103246525-103247481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103247174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 217 (I217N)
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: I217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095799
Gene: ENSMUSG00000073945
AA Change: I217N

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: I217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215732
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 91% (62/68)
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
Add2 A T 6: 86,086,728 (GRCm39) D296V probably damaging Het
Ak9 A G 10: 41,233,559 (GRCm39) E599G possibly damaging Het
Ank3 A T 10: 69,822,293 (GRCm39) I1604F probably benign Het
Arid4a A G 12: 71,109,980 (GRCm39) D107G probably benign Het
Bltp1 A G 3: 37,019,770 (GRCm39) T2060A probably damaging Het
Btn2a2 A T 13: 23,666,978 (GRCm39) I209N probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Csmd3 A G 15: 47,596,901 (GRCm39) V1979A probably damaging Het
Cyp4a12b C T 4: 115,271,714 (GRCm39) R142* probably null Het
Ddx23 A T 15: 98,556,121 (GRCm39) S66T unknown Het
Efcab2 A G 1: 178,303,439 (GRCm39) K121R probably benign Het
Epb41l1 T A 2: 156,345,708 (GRCm39) V237D probably damaging Het
Epb41l1 G T 2: 156,366,903 (GRCm39) A579S probably benign Het
Epn1 G A 7: 5,096,911 (GRCm39) R231H probably damaging Het
Fbrs T C 7: 127,086,924 (GRCm39) S649P probably damaging Het
Fezf1 A G 6: 23,247,427 (GRCm39) V216A probably benign Het
Gen1 A T 12: 11,310,897 (GRCm39) S112T probably damaging Het
Glrx2 A G 1: 143,620,872 (GRCm39) N84D probably benign Het
Gm1818 T G 12: 48,602,719 (GRCm39) noncoding transcript Het
Hira C A 16: 18,753,815 (GRCm39) T553K possibly damaging Het
Hnrnph3 A G 10: 62,851,374 (GRCm39) probably benign Het
Ighv12-3 A T 12: 114,330,204 (GRCm39) F97Y probably benign Het
Jcad A G 18: 4,674,554 (GRCm39) Q772R probably damaging Het
Lamb3 A G 1: 193,014,670 (GRCm39) T610A probably benign Het
Map3k19 T C 1: 127,750,477 (GRCm39) D958G probably benign Het
Map4k4 G A 1: 40,039,082 (GRCm39) probably benign Het
Mocos T C 18: 24,834,444 (GRCm39) V827A possibly damaging Het
Ms4a10 T A 19: 10,941,486 (GRCm39) D161V probably damaging Het
Myh9 A G 15: 77,657,532 (GRCm39) I1071T possibly damaging Het
Myo15a A G 11: 60,370,246 (GRCm39) E1002G possibly damaging Het
Neurod6 G A 6: 55,656,002 (GRCm39) H212Y probably damaging Het
Or2v1 A T 11: 49,025,399 (GRCm39) I95F probably damaging Het
Or5b12 T C 19: 12,897,194 (GRCm39) N160D probably benign Het
Pcdhb17 T C 18: 37,620,133 (GRCm39) V641A probably benign Het
Ppp3ca A T 3: 136,634,332 (GRCm39) M431L probably benign Het
Ptprk A T 10: 28,461,671 (GRCm39) I69F probably damaging Het
Rab34 G T 11: 78,081,094 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,318,406 (GRCm39) N619S probably benign Het
Rnf169 T C 7: 99,574,840 (GRCm39) H585R probably damaging Het
Rps6kc1 A G 1: 190,617,617 (GRCm39) V129A probably benign Het
Siglecf C T 7: 43,005,351 (GRCm39) T437M probably benign Het
Slc25a2 T C 18: 37,771,335 (GRCm39) N65D probably benign Het
Spire1 A G 18: 67,639,779 (GRCm39) S245P probably benign Het
Sptb A T 12: 76,679,158 (GRCm39) M99K probably benign Het
Tacc1 G T 8: 25,672,011 (GRCm39) L406I possibly damaging Het
Tas2r140 T C 6: 40,468,476 (GRCm39) I102T probably benign Het
Trappc11 A T 8: 47,949,952 (GRCm39) probably null Het
Trbv11 A G 6: 41,084,153 (GRCm39) noncoding transcript Het
Trmt11 A G 10: 30,436,838 (GRCm39) Y301H probably benign Het
Tspo A G 15: 83,456,441 (GRCm39) T75A possibly damaging Het
Ttn T C 2: 76,710,569 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,462,030 (GRCm39) Q1210R probably damaging Het
Zhx3 A T 2: 160,623,937 (GRCm39) Y77N probably damaging 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
R6328:Or52z13 UTSW 7 103,247,073 (GRCm39) missense probably damaging 1.00
R7264:Or52z13 UTSW 7 103,246,955 (GRCm39) missense probably damaging 0.97
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'- CAGAATGGGCATTGCATCTGTG -3'
(R):5'- AAGAATGTGCATGTGACGTG -3'

Sequencing Primer
(F):5'- GCATTGCATCTGTGACTAGAAGC -3'
(R):5'- AAGAATGTGCATGTGACGTGGTATG -3'
Posted On 2017-03-31