Incidental Mutation 'IGL03288:Or11h7'
ID 415773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or11h7
Ensembl Gene ENSMUSG00000058188
Gene Name olfactory receptor family 11 subfamily H member 7
Synonyms MOR106-12, Olfr746, GA_x6K02T2PMLR-6372116-6373060
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL03288
Quality Score
Status
Chromosome 14
Chromosomal Location 50890696-50891640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50890832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 46 (I46T)
Ref Sequence ENSEMBL: ENSMUSP00000151399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080616] [ENSMUST00000218546]
AlphaFold E9Q840
Predicted Effect possibly damaging
Transcript: ENSMUST00000080616
AA Change: I46T

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079451
Gene: ENSMUSG00000058188
AA Change: I46T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.9e-52 PFAM
Pfam:7tm_1 41 290 2.8e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218546
AA Change: I46T

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Cert1 T A 13: 96,770,700 (GRCm39) D536E probably benign Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Dbt T A 3: 116,341,847 (GRCm39) *483K probably null Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Fbn1 A T 2: 125,145,103 (GRCm39) L2712Q probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Nup153 T C 13: 46,858,681 (GRCm39) E410G possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Phf13 T C 4: 152,076,826 (GRCm39) D122G possibly damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Semp2l1 T A 1: 32,584,841 (GRCm39) E356D probably benign Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (GRCm39) probably benign Het
Other mutations in Or11h7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03333:Or11h7 APN 14 50,890,855 (GRCm39) nonsense probably null
R0217:Or11h7 UTSW 14 50,891,552 (GRCm39) missense probably damaging 1.00
R0621:Or11h7 UTSW 14 50,891,419 (GRCm39) missense possibly damaging 0.91
R1656:Or11h7 UTSW 14 50,891,465 (GRCm39) missense probably benign 0.16
R1975:Or11h7 UTSW 14 50,890,821 (GRCm39) missense probably damaging 1.00
R4281:Or11h7 UTSW 14 50,891,029 (GRCm39) missense probably benign 0.18
R5763:Or11h7 UTSW 14 50,891,525 (GRCm39) missense possibly damaging 0.84
R6236:Or11h7 UTSW 14 50,891,257 (GRCm39) missense probably damaging 1.00
R6612:Or11h7 UTSW 14 50,891,090 (GRCm39) missense probably damaging 1.00
R7112:Or11h7 UTSW 14 50,891,583 (GRCm39) missense probably benign 0.03
R7125:Or11h7 UTSW 14 50,891,041 (GRCm39) missense possibly damaging 0.92
R7221:Or11h7 UTSW 14 50,891,528 (GRCm39) missense probably damaging 0.99
R7810:Or11h7 UTSW 14 50,891,450 (GRCm39) missense probably benign 0.43
R7881:Or11h7 UTSW 14 50,890,904 (GRCm39) missense probably damaging 1.00
R8002:Or11h7 UTSW 14 50,891,314 (GRCm39) missense probably damaging 0.99
R8681:Or11h7 UTSW 14 50,890,801 (GRCm39) missense probably benign 0.00
R9518:Or11h7 UTSW 14 50,891,101 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02