Incidental Mutation 'IGL03130:Or7d11'
ID 410293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or7d11
Ensembl Gene ENSMUSG00000044454
Gene Name olfactory receptor family 7 subfamily D member 11
Synonyms GA_x6K02T2PVTD-13795933-13794938, MOR143-2, Olfr867
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03130
Quality Score
Status
Chromosome 9
Chromosomal Location 19965762-19966757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19966668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 30 (L30F)
Ref Sequence ENSEMBL: ENSMUSP00000150378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060780] [ENSMUST00000212098] [ENSMUST00000216538]
AlphaFold Q7TRF3
Predicted Effect probably benign
Transcript: ENSMUST00000060780
AA Change: L30F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057469
Gene: ENSMUSG00000044454
AA Change: L30F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 301 1.6e-6 PFAM
Pfam:7tm_1 41 290 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212098
Predicted Effect probably benign
Transcript: ENSMUST00000216538
AA Change: L30F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
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
Abtb3 G T 10: 85,224,347 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,622,403 (GRCm39) E941G possibly damaging Het
Akap11 A T 14: 78,747,808 (GRCm39) Y1526* probably null Het
Brd1 T C 15: 88,572,577 (GRCm39) I1165V probably benign Het
Cdan1 T C 2: 120,558,393 (GRCm39) D473G possibly damaging Het
Clstn3 G A 6: 124,436,222 (GRCm39) L176F probably damaging Het
Ctif T C 18: 75,654,689 (GRCm39) N279S probably benign Het
Dpy19l3 A G 7: 35,452,097 (GRCm39) S16P probably benign Het
Ecpas A T 4: 58,800,288 (GRCm39) C1806S probably benign Het
Fam151b T C 13: 92,586,701 (GRCm39) Y244C probably benign Het
Gbf1 T C 19: 46,255,787 (GRCm39) M750T possibly damaging Het
Gm11564 T A 11: 99,705,879 (GRCm39) T184S unknown Het
Gnptab A G 10: 88,272,233 (GRCm39) K958E possibly damaging Het
Hibch T C 1: 52,924,310 (GRCm39) S162P possibly damaging Het
Itpr1 T C 6: 108,500,362 (GRCm39) S2651P probably benign Het
LTO1 A G 7: 144,470,197 (GRCm39) E42G probably damaging Het
Lyrm1 A G 7: 119,513,403 (GRCm39) D56G probably damaging Het
Manba T C 3: 135,256,920 (GRCm39) Y528H probably damaging Het
Npas2 A C 1: 39,352,109 (GRCm39) E186D probably damaging Het
Or4f61 A T 2: 111,922,166 (GRCm39) D293E probably benign Het
Or7c19 A T 8: 85,957,258 (GRCm39) I45F possibly damaging Het
Pcdhb6 T A 18: 37,468,640 (GRCm39) Y520* probably null Het
Plekhm1 C T 11: 103,268,207 (GRCm39) R588H probably benign Het
Psg23 A T 7: 18,344,341 (GRCm39) H371Q probably benign Het
Ptpn12 T C 5: 21,207,610 (GRCm39) probably benign Het
Rela T C 19: 5,689,909 (GRCm39) C120R probably damaging Het
Rps6kc1 T A 1: 190,532,008 (GRCm39) I665F probably damaging Het
Spg21 A G 9: 65,380,990 (GRCm39) Q99R probably benign Het
St14 A G 9: 31,008,367 (GRCm39) probably null Het
Sult1c2 A T 17: 54,137,099 (GRCm39) N274K probably benign Het
Syk T C 13: 52,776,768 (GRCm39) V256A probably benign Het
Tcte1 A G 17: 45,844,222 (GRCm39) D66G probably damaging Het
Tgm4 C T 9: 122,885,580 (GRCm39) T374M probably damaging Het
Tns4 T C 11: 98,959,095 (GRCm39) H668R probably damaging Het
Tsn C T 1: 118,232,999 (GRCm39) A102T possibly damaging Het
Uvssa T A 5: 33,549,189 (GRCm39) S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 (GRCm39) Y31F possibly damaging Het
Vmn2r114 A T 17: 23,515,970 (GRCm39) probably benign Het
Vmn2r27 T C 6: 124,169,276 (GRCm39) D618G possibly damaging Het
Vmn2r91 T A 17: 18,330,373 (GRCm39) probably benign Het
Vti1a T C 19: 55,380,279 (GRCm39) Y143H probably damaging Het
Zfand4 T A 6: 116,250,620 (GRCm39) Y17N probably damaging Het
Zfp729a T C 13: 67,767,761 (GRCm39) probably null Het
Zfp827 A G 8: 79,787,586 (GRCm39) T251A probably damaging Het
Other mutations in Or7d11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Or7d11 APN 9 19,966,196 (GRCm39) missense probably benign 0.01
R1034:Or7d11 UTSW 9 19,966,661 (GRCm39) missense probably benign 0.02
R1238:Or7d11 UTSW 9 19,966,757 (GRCm39) start codon destroyed probably benign 0.12
R1412:Or7d11 UTSW 9 19,966,711 (GRCm39) missense possibly damaging 0.65
R1625:Or7d11 UTSW 9 19,966,678 (GRCm39) missense probably damaging 1.00
R1689:Or7d11 UTSW 9 19,966,422 (GRCm39) missense possibly damaging 0.94
R2060:Or7d11 UTSW 9 19,965,892 (GRCm39) missense probably damaging 1.00
R2204:Or7d11 UTSW 9 19,966,507 (GRCm39) missense possibly damaging 0.74
R2350:Or7d11 UTSW 9 19,966,384 (GRCm39) missense probably damaging 1.00
R3901:Or7d11 UTSW 9 19,966,169 (GRCm39) missense probably benign 0.00
R5637:Or7d11 UTSW 9 19,966,279 (GRCm39) missense possibly damaging 0.80
R6084:Or7d11 UTSW 9 19,966,179 (GRCm39) missense possibly damaging 0.71
R6150:Or7d11 UTSW 9 19,966,170 (GRCm39) missense probably benign 0.22
R6602:Or7d11 UTSW 9 19,966,342 (GRCm39) missense probably benign 0.01
R6902:Or7d11 UTSW 9 19,966,670 (GRCm39) missense possibly damaging 0.47
R6946:Or7d11 UTSW 9 19,966,670 (GRCm39) missense possibly damaging 0.47
R7085:Or7d11 UTSW 9 19,966,232 (GRCm39) missense probably benign 0.37
R7678:Or7d11 UTSW 9 19,965,901 (GRCm39) missense probably damaging 1.00
R8034:Or7d11 UTSW 9 19,966,301 (GRCm39) missense probably benign 0.01
R9194:Or7d11 UTSW 9 19,966,543 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02