Incidental Mutation 'IGL02959:Or4k52'
ID 365246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k52
Ensembl Gene ENSMUSG00000044560
Gene Name olfactory receptor family 4 subfamily K member 52
Synonyms Olfr1302, GA_x6K02T2Q125-72831562-72832500, MOR248-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02959
Quality Score
Status
Chromosome 2
Chromosomal Location 111610658-111611605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111610955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 97 (C97S)
Ref Sequence ENSEMBL: ENSMUSP00000150896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054004] [ENSMUST00000119566] [ENSMUST00000214708] [ENSMUST00000215244]
AlphaFold Q8VGE9
Predicted Effect probably damaging
Transcript: ENSMUST00000054004
AA Change: C100S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: C100S

DomainStartEndE-ValueType
Pfam:7tm_4 34 308 2.4e-49 PFAM
Pfam:7tm_1 44 290 8.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119566
AA Change: C97S
Predicted Effect probably damaging
Transcript: ENSMUST00000214708
AA Change: C97S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215244
AA Change: C97S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
A2ml1 G T 6: 128,544,023 (GRCm39) A506D probably benign Het
Agap1 G T 1: 89,770,913 (GRCm39) V635L possibly damaging Het
Akr1c12 T C 13: 4,329,331 (GRCm39) K9E probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Bcr T C 10: 74,996,222 (GRCm39) F922S probably benign Het
Cfap44 T A 16: 44,291,230 (GRCm39) probably benign Het
Chil5 A G 3: 105,926,906 (GRCm39) V243A probably damaging Het
Csmd1 A G 8: 15,960,465 (GRCm39) C3317R probably damaging Het
Dsc1 T C 18: 20,241,942 (GRCm39) K133R probably damaging Het
Ecm1 T A 3: 95,644,989 (GRCm39) Q136L probably damaging Het
Fscn3 C A 6: 28,435,997 (GRCm39) A431E possibly damaging Het
Gas7 C T 11: 67,565,061 (GRCm39) probably benign Het
Gbx2 A G 1: 89,856,517 (GRCm39) V291A probably damaging Het
Hipk3 G A 2: 104,301,604 (GRCm39) T196M probably damaging Het
Il20ra T A 10: 19,634,789 (GRCm39) N343K probably benign Het
Il24 C T 1: 130,813,470 (GRCm39) W42* probably null Het
Kif13b A T 14: 65,005,166 (GRCm39) I1153F probably damaging Het
Krt1c A T 15: 101,719,763 (GRCm39) S636T unknown Het
Or11g24 A T 14: 50,662,389 (GRCm39) M138L possibly damaging Het
Or13a25 C T 7: 140,247,463 (GRCm39) P81S probably damaging Het
Or14c40 T C 7: 86,313,737 (GRCm39) F289S probably damaging Het
Or6d15 A T 6: 116,559,505 (GRCm39) M134K probably damaging Het
Osmr T C 15: 6,845,378 (GRCm39) D796G possibly damaging Het
Peli2 A T 14: 48,477,754 (GRCm39) T99S probably benign Het
Pi4k2a A T 19: 42,101,510 (GRCm39) K317N probably benign Het
Pik3r1 T G 13: 101,894,037 (GRCm39) D44A probably benign Het
Pkhd1 G T 1: 20,678,640 (GRCm39) S96* probably null Het
Plekha5 A G 6: 140,489,904 (GRCm39) E9G probably damaging Het
Plekha8 T C 6: 54,592,254 (GRCm39) F71S probably damaging Het
Polq G T 16: 36,906,928 (GRCm39) L2296F probably damaging Het
Rbm5 G A 9: 107,631,384 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,295,366 (GRCm39) K217E probably damaging Het
Scrib A G 15: 75,937,056 (GRCm39) L350P probably damaging Het
Slc4a10 T A 2: 62,098,487 (GRCm39) S540R probably damaging Het
Smc3 G T 19: 53,611,988 (GRCm39) V354L probably benign Het
Smurf1 T A 5: 144,836,199 (GRCm39) I105F probably damaging Het
Stx7 G T 10: 24,031,247 (GRCm39) R17L probably benign Het
Tbca C T 13: 94,979,203 (GRCm39) R74C probably benign Het
Tmem92 T C 11: 94,669,504 (GRCm39) Q153R possibly damaging Het
Trim41 C A 11: 48,698,307 (GRCm39) G553V probably damaging Het
Trim75 A T 8: 65,435,417 (GRCm39) N344K possibly damaging Het
Tsr1 A G 11: 74,791,075 (GRCm39) D218G probably benign Het
Ubr2 A C 17: 47,286,877 (GRCm39) V474G probably damaging Het
Unc45a T G 7: 79,982,721 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,675 (GRCm39) A763T probably benign Het
Other mutations in Or4k52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Or4k52 APN 2 111,611,246 (GRCm39) missense possibly damaging 0.80
IGL01604:Or4k52 APN 2 111,610,935 (GRCm39) missense possibly damaging 0.60
IGL02975:Or4k52 APN 2 111,611,266 (GRCm39) nonsense probably null
IGL03357:Or4k52 APN 2 111,610,871 (GRCm39) missense probably benign 0.01
R0245:Or4k52 UTSW 2 111,610,680 (GRCm39) missense probably damaging 1.00
R1522:Or4k52 UTSW 2 111,610,693 (GRCm39) splice site probably null
R2126:Or4k52 UTSW 2 111,610,841 (GRCm39) missense probably damaging 0.99
R2432:Or4k52 UTSW 2 111,611,016 (GRCm39) missense probably benign 0.01
R4780:Or4k52 UTSW 2 111,611,190 (GRCm39) missense probably damaging 1.00
R5260:Or4k52 UTSW 2 111,611,526 (GRCm39) missense probably damaging 1.00
R5517:Or4k52 UTSW 2 111,610,804 (GRCm39) missense probably benign
R6273:Or4k52 UTSW 2 111,611,567 (GRCm39) missense probably benign 0.00
R7315:Or4k52 UTSW 2 111,611,004 (GRCm39) missense probably damaging 0.96
R7740:Or4k52 UTSW 2 111,610,793 (GRCm39) missense possibly damaging 0.94
R8742:Or4k52 UTSW 2 111,610,910 (GRCm39) missense probably benign 0.03
R8891:Or4k52 UTSW 2 111,611,186 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18