Incidental Mutation 'IGL03183:Or10j27'
ID 412324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10j27
Ensembl Gene ENSMUSG00000062527
Gene Name olfactory receptor family 10 subfamily J member 27
Synonyms MOR267-4, GA_x6K02T2R7CC-715776-716708, Olfr1408
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL03183
Quality Score
Status
Chromosome 1
Chromosomal Location 172957767-172964901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172958425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 120 (Y120H)
Ref Sequence ENSEMBL: ENSMUSP00000073345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073663] [ENSMUST00000200689]
AlphaFold Q8VG32
Predicted Effect probably damaging
Transcript: ENSMUST00000073663
AA Change: Y120H

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073345
Gene: ENSMUSG00000062527
AA Change: Y120H

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.5e-55 PFAM
Pfam:7tm_1 41 289 9.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200689
AA Change: Y120H

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143864
Gene: ENSMUSG00000062527
AA Change: Y120H

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.5e-55 PFAM
Pfam:7tm_1 41 289 9.4e-19 PFAM
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh6a1 A G 12: 84,483,214 (GRCm39) probably null Het
Ano2 A T 6: 125,687,592 (GRCm39) K32N probably benign Het
Asic1 A G 15: 99,569,898 (GRCm39) H73R probably benign Het
B3glct A G 5: 149,677,607 (GRCm39) D412G probably damaging Het
Baz2b T C 2: 59,733,640 (GRCm39) I1891V probably benign Het
Cc2d2a A G 5: 43,889,721 (GRCm39) E1278G probably damaging Het
Ccdc116 T C 16: 16,960,718 (GRCm39) E33G probably benign Het
Celf4 T A 18: 25,670,796 (GRCm39) Q129L probably benign Het
Celf4 G T 18: 25,670,797 (GRCm39) Q129K probably benign Het
Cfap251 A G 5: 123,392,682 (GRCm39) probably benign Het
Col18a1 A G 10: 76,909,588 (GRCm39) S817P probably damaging Het
Corin A G 5: 72,458,929 (GRCm39) V940A probably damaging Het
Dlgap2 A T 8: 14,777,525 (GRCm39) N257Y possibly damaging Het
Dnah2 C A 11: 69,349,314 (GRCm39) V2441L possibly damaging Het
Evpl C T 11: 116,112,438 (GRCm39) E1751K probably damaging Het
Fat1 G A 8: 45,403,623 (GRCm39) E125K probably damaging Het
Fras1 A T 5: 96,881,640 (GRCm39) probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
G3bp2 A C 5: 92,202,905 (GRCm39) M362R possibly damaging Het
Grk5 T C 19: 61,057,774 (GRCm39) F158S probably damaging Het
Hmbox1 G T 14: 65,125,048 (GRCm39) Q188K probably damaging Het
Ift172 A T 5: 31,429,348 (GRCm39) D604E probably benign Het
Igkv6-32 T A 6: 70,051,556 (GRCm39) T5S probably benign Het
Impa1 A G 3: 10,388,054 (GRCm39) Y123H probably damaging Het
Itgb4 C T 11: 115,879,550 (GRCm39) T612M probably damaging Het
Med12l T A 3: 58,944,976 (GRCm39) probably null Het
Meis2 A G 2: 115,890,002 (GRCm39) L160S probably damaging Het
Micu1 C T 10: 59,563,870 (GRCm39) R31* probably null Het
Nlrp9a G T 7: 26,256,882 (GRCm39) A167S probably damaging Het
Or4d10 A T 19: 12,051,392 (GRCm39) N201K probably damaging Het
Plpp6 A G 19: 28,942,071 (GRCm39) N224S possibly damaging Het
Sdk2 T A 11: 113,741,810 (GRCm39) H803L probably benign Het
Shld2 T C 14: 33,967,143 (GRCm39) T690A probably benign Het
Slc36a1 T A 11: 55,119,017 (GRCm39) Y331N probably damaging Het
Spata31d1c A T 13: 65,183,009 (GRCm39) I184F possibly damaging Het
Stat3 T C 11: 100,793,582 (GRCm39) I338V possibly damaging Het
Stk10 T A 11: 32,554,143 (GRCm39) V610E possibly damaging Het
Syna A G 5: 134,587,144 (GRCm39) S602P probably benign Het
Tap2 T A 17: 34,424,399 (GRCm39) probably benign Het
Tln1 T C 4: 43,539,084 (GRCm39) probably benign Het
Tra2b C A 16: 22,073,303 (GRCm39) probably benign Het
Ttc7b T C 12: 100,339,968 (GRCm39) probably null Het
Vmn2r121 G A X: 123,042,023 (GRCm39) T378I probably benign Het
Wdr1 A T 5: 38,690,825 (GRCm39) probably null Het
Other mutations in Or10j27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Or10j27 APN 1 172,957,978 (GRCm39) nonsense probably null
IGL01371:Or10j27 APN 1 172,958,098 (GRCm39) missense possibly damaging 0.67
IGL01816:Or10j27 APN 1 172,957,840 (GRCm39) utr 3 prime probably benign
IGL02543:Or10j27 APN 1 172,957,901 (GRCm39) missense probably damaging 0.99
IGL03104:Or10j27 APN 1 172,958,526 (GRCm39) missense probably benign 0.00
R0940:Or10j27 UTSW 1 172,958,020 (GRCm39) missense probably benign 0.42
R1835:Or10j27 UTSW 1 172,958,382 (GRCm39) missense probably benign 0.00
R1993:Or10j27 UTSW 1 172,958,418 (GRCm39) missense possibly damaging 0.65
R1994:Or10j27 UTSW 1 172,958,418 (GRCm39) missense possibly damaging 0.65
R4438:Or10j27 UTSW 1 172,957,869 (GRCm39) missense probably benign 0.02
R4948:Or10j27 UTSW 1 172,958,526 (GRCm39) missense probably benign 0.00
R5088:Or10j27 UTSW 1 172,958,606 (GRCm39) missense probably damaging 1.00
R5117:Or10j27 UTSW 1 172,958,484 (GRCm39) missense possibly damaging 0.91
R5118:Or10j27 UTSW 1 172,958,484 (GRCm39) missense possibly damaging 0.91
R5344:Or10j27 UTSW 1 172,958,673 (GRCm39) missense probably benign 0.16
R8176:Or10j27 UTSW 1 172,958,383 (GRCm39) missense probably benign 0.00
X0018:Or10j27 UTSW 1 172,958,266 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02