Incidental Mutation 'IGL00946:Or10j7'
ID 26677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10j7
Ensembl Gene ENSMUSG00000058981
Gene Name olfactory receptor family 10 subfamily J member 7
Synonyms GA_x6K02T2R7CC-664297-665229, MOR267-5, Olfr1406
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL00946
Quality Score
Status
Chromosome 1
Chromosomal Location 173011009-173012071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173011190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 270 (D270E)
Ref Sequence ENSEMBL: ENSMUSP00000151023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072395] [ENSMUST00000201132] [ENSMUST00000215878]
AlphaFold E9Q8X1
Predicted Effect probably benign
Transcript: ENSMUST00000072395
AA Change: D270E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072231
Gene: ENSMUSG00000058981
AA Change: D270E

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.9e-55 PFAM
Pfam:7tm_1 41 289 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201132
AA Change: D270E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144530
Gene: ENSMUSG00000058981
AA Change: D270E

DomainStartEndE-ValueType
Pfam:7tm_4 31 88 5.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215878
AA Change: D270E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 132,790,373 (GRCm39) I538T probably benign Het
Bmp10 A T 6: 87,411,344 (GRCm39) Q379L probably damaging Het
Cacna2d4 G A 6: 119,248,876 (GRCm39) A446T possibly damaging Het
Chrdl1 G A X: 142,077,164 (GRCm39) probably benign Het
Crtc2 A G 3: 90,168,112 (GRCm39) H370R probably damaging Het
Cubn T C 2: 13,461,434 (GRCm39) T698A probably damaging Het
Deup1 T C 9: 15,472,534 (GRCm39) T593A possibly damaging Het
Dus1l T C 11: 120,684,701 (GRCm39) T157A probably damaging Het
Efcab6 T C 15: 83,902,897 (GRCm39) N151S probably benign Het
Eif2b5 T A 16: 20,324,002 (GRCm39) H448Q probably benign Het
Epha8 T C 4: 136,673,121 (GRCm39) D221G probably damaging Het
Eprs1 G A 1: 185,139,898 (GRCm39) G996S probably benign Het
Fn1 G A 1: 71,684,699 (GRCm39) probably benign Het
Gfpt1 A G 6: 87,027,924 (GRCm39) Y10C probably damaging Het
Ghitm C T 14: 36,847,203 (GRCm39) M290I probably benign Het
Gpd2 T C 2: 57,158,096 (GRCm39) probably null Het
Htr2a T A 14: 74,943,582 (GRCm39) Y387* probably null Het
Lrrc7 T A 3: 157,866,993 (GRCm39) Q916L probably benign Het
Mfsd9 A C 1: 40,812,940 (GRCm39) D458E probably benign Het
Nmb T C 7: 80,552,208 (GRCm39) I123M probably benign Het
Nrap A T 19: 56,329,058 (GRCm39) probably null Het
Or4d5 A G 9: 40,012,450 (GRCm39) I112T probably benign Het
Or4k49 T A 2: 111,495,489 (GRCm39) M306K probably benign Het
Pola1 T C X: 92,524,145 (GRCm39) I1165M probably benign Het
Sdk1 G T 5: 142,070,368 (GRCm39) probably null Het
Selenon T A 4: 134,267,037 (GRCm39) probably benign Het
Stk39 T A 2: 68,144,908 (GRCm39) T389S possibly damaging Het
Tmx3 A G 18: 90,558,178 (GRCm39) E410G possibly damaging Het
Utp20 A T 10: 88,584,177 (GRCm39) V2660E possibly damaging Het
Vps52 T C 17: 34,175,932 (GRCm39) L40P possibly damaging Het
Wdr25 C T 12: 108,990,953 (GRCm39) S380F possibly damaging Het
Xpo7 T C 14: 70,909,098 (GRCm39) T808A probably benign Het
Zc3h14 T C 12: 98,726,142 (GRCm39) probably benign Het
Other mutations in Or10j7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Or10j7 APN 1 173,011,843 (GRCm39) missense probably benign 0.00
IGL01996:Or10j7 APN 1 173,011,294 (GRCm39) missense probably benign 0.00
F5770:Or10j7 UTSW 1 173,011,531 (GRCm39) missense probably benign 0.05
PIT4378001:Or10j7 UTSW 1 173,011,381 (GRCm39) missense probably benign 0.00
R0053:Or10j7 UTSW 1 173,011,845 (GRCm39) missense probably benign 0.35
R0800:Or10j7 UTSW 1 173,011,627 (GRCm39) missense probably damaging 1.00
R1793:Or10j7 UTSW 1 173,011,976 (GRCm39) missense probably benign
R2230:Or10j7 UTSW 1 173,011,182 (GRCm39) missense probably benign 0.04
R2232:Or10j7 UTSW 1 173,011,182 (GRCm39) missense probably benign 0.04
R5395:Or10j7 UTSW 1 173,011,247 (GRCm39) nonsense probably null
R5455:Or10j7 UTSW 1 173,011,818 (GRCm39) missense probably damaging 1.00
R5457:Or10j7 UTSW 1 173,011,180 (GRCm39) missense probably damaging 1.00
R5558:Or10j7 UTSW 1 173,011,585 (GRCm39) missense probably benign 0.01
R5760:Or10j7 UTSW 1 173,011,318 (GRCm39) missense probably benign 0.05
R6285:Or10j7 UTSW 1 173,011,477 (GRCm39) missense probably damaging 1.00
R7159:Or10j7 UTSW 1 173,011,890 (GRCm39) missense possibly damaging 0.95
R7676:Or10j7 UTSW 1 173,011,120 (GRCm39) nonsense probably null
R8700:Or10j7 UTSW 1 173,011,429 (GRCm39) missense probably benign
R8829:Or10j7 UTSW 1 173,011,458 (GRCm39) missense probably benign 0.06
R9721:Or10j7 UTSW 1 173,011,915 (GRCm39) missense probably benign 0.07
R9785:Or10j7 UTSW 1 173,011,458 (GRCm39) missense probably benign 0.06
R9788:Or10j7 UTSW 1 173,011,458 (GRCm39) missense probably benign 0.06
R9789:Or10j7 UTSW 1 173,011,458 (GRCm39) missense probably benign 0.06
V7580:Or10j7 UTSW 1 173,011,531 (GRCm39) missense probably benign 0.05
V7581:Or10j7 UTSW 1 173,011,531 (GRCm39) missense probably benign 0.05
V7582:Or10j7 UTSW 1 173,011,531 (GRCm39) missense probably benign 0.05
Posted On 2013-04-17