Incidental Mutation 'IGL02975:Or4k52'
ID 406313
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: 0.062) question?
Stock # IGL02975
Quality Score
Status
Chromosome 2
Chromosomal Location 111610658-111611605 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 111611266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 200 (Y200*)
Ref Sequence ENSEMBL: ENSMUSP00000150896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054004] [ENSMUST00000119566] [ENSMUST00000214708] [ENSMUST00000215244]
AlphaFold Q8VGE9
Predicted Effect probably null
Transcript: ENSMUST00000054004
AA Change: Y203*
SMART Domains Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: Y203*

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: Y200*
Predicted Effect probably null
Transcript: ENSMUST00000214708
AA Change: Y200*
Predicted Effect probably null
Transcript: ENSMUST00000215244
AA Change: Y200*
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abtb3 A G 10: 85,467,207 (GRCm39) I721V probably benign Het
Ago4 C T 4: 126,406,312 (GRCm39) probably null Het
Ank A G 15: 27,467,087 (GRCm39) probably benign Het
Ankmy2 C A 12: 36,243,773 (GRCm39) S329R possibly damaging Het
Aox1 A G 1: 58,107,550 (GRCm39) E608G probably damaging Het
Car1 G A 3: 14,842,882 (GRCm39) L48F probably benign Het
Cct8 A G 16: 87,283,118 (GRCm39) probably benign Het
Clasp1 A T 1: 118,390,277 (GRCm39) T154S probably damaging Het
Clca4a A C 3: 144,669,530 (GRCm39) I340M possibly damaging Het
Cnksr3 C T 10: 7,088,354 (GRCm39) probably null Het
Cntrob T C 11: 69,210,199 (GRCm39) T265A possibly damaging Het
Ddx5 T C 11: 106,672,711 (GRCm39) I605V probably benign Het
Eif3i A G 4: 129,489,105 (GRCm39) Y70H probably damaging Het
Epb41l5 T C 1: 119,506,811 (GRCm39) probably benign Het
Fah A T 7: 84,250,287 (GRCm39) S90T probably benign Het
Fat2 T A 11: 55,161,020 (GRCm39) M3237L probably benign Het
Fbxw8 A G 5: 118,215,760 (GRCm39) Y417H probably benign Het
Fmnl2 C A 2: 52,991,494 (GRCm39) F336L probably benign Het
Gli3 A G 13: 15,899,153 (GRCm39) R847G probably damaging Het
Gm17509 T C 13: 117,357,308 (GRCm39) probably benign Het
Gm4846 T A 1: 166,311,449 (GRCm39) Y470F possibly damaging Het
Gm7461 T C 8: 4,727,847 (GRCm39) noncoding transcript Het
Gpatch4 A T 3: 87,961,743 (GRCm39) N134I possibly damaging Het
Grina A G 15: 76,133,185 (GRCm39) Y251C probably damaging Het
Gsn A G 2: 35,194,666 (GRCm39) D654G probably benign Het
Hyal5 A G 6: 24,891,451 (GRCm39) T422A probably benign Het
Iars1 T A 13: 49,858,325 (GRCm39) I377N probably damaging Het
Ints3 A T 3: 90,309,144 (GRCm39) probably benign Het
Kdm4b G A 17: 56,682,996 (GRCm39) probably null Het
Kyat1 A G 2: 30,076,687 (GRCm39) S276P probably damaging Het
Lrrc1 A G 9: 77,359,929 (GRCm39) C288R probably damaging Het
Mst1r T A 9: 107,790,379 (GRCm39) M664K probably benign Het
Neb A T 2: 52,188,879 (GRCm39) I817N probably damaging Het
Nudt6 C A 3: 37,473,667 (GRCm39) G18V probably damaging Het
Or10a49 G A 7: 108,468,062 (GRCm39) Q100* probably null Het
Or7a41 T C 10: 78,870,867 (GRCm39) V79A possibly damaging Het
Pde1c A G 6: 56,135,921 (GRCm39) I341T probably damaging Het
Pgm5 T C 19: 24,812,212 (GRCm39) I107V probably benign Het
Pot1b G A 17: 55,969,454 (GRCm39) probably benign Het
Prkca C T 11: 108,231,503 (GRCm39) W58* probably null Het
Slc12a9 T C 5: 137,320,705 (GRCm39) K555R probably damaging Het
Smoc2 A T 17: 14,556,872 (GRCm39) Q107L probably damaging Het
Sytl1 T A 4: 132,988,343 (GRCm39) R4S probably benign Het
Tbc1d4 A G 14: 101,695,549 (GRCm39) L963P probably damaging Het
Tfdp2 G A 9: 96,199,989 (GRCm39) probably benign Het
Tmem63a A T 1: 180,788,640 (GRCm39) M326L probably benign Het
Vmn2r66 A G 7: 84,656,182 (GRCm39) L278P probably damaging Het
Wtap A G 17: 13,202,398 (GRCm39) V11A possibly damaging Het
Zcchc9 A T 13: 91,954,172 (GRCm39) S28T possibly damaging Het
Zfp12 C T 5: 143,229,814 (GRCm39) 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
IGL02959:Or4k52 APN 2 111,610,955 (GRCm39) missense probably damaging 1.00
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 2016-08-02