Incidental Mutation 'IGL03142:Or4d11'
ID 410711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4d11
Ensembl Gene ENSMUSG00000067529
Gene Name olfactory receptor family 4 subfamily D member 11
Synonyms MOR239-3, GA_x6K02T2RE5P-2393361-2392429, Olfr1423
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # IGL03142
Quality Score
Status
Chromosome 19
Chromosomal Location 12013172-12014104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12013752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 118 (M118K)
Ref Sequence ENSEMBL: ENSMUSP00000150649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087831] [ENSMUST00000214472]
AlphaFold Q8VFV0
Predicted Effect probably damaging
Transcript: ENSMUST00000087831
AA Change: M118K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: M118K

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 2.7e-48 PFAM
Pfam:7tm_1 41 287 2.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207831
Predicted Effect probably damaging
Transcript: ENSMUST00000214472
AA Change: M118K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Or4d11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Or4d11 APN 19 12,013,305 (GRCm39) missense probably benign 0.36
IGL01843:Or4d11 APN 19 12,014,041 (GRCm39) missense probably benign
IGL01915:Or4d11 APN 19 12,013,461 (GRCm39) missense probably damaging 1.00
IGL02283:Or4d11 APN 19 12,013,219 (GRCm39) missense possibly damaging 0.87
IGL02807:Or4d11 APN 19 12,013,648 (GRCm39) missense probably benign 0.12
IGL02976:Or4d11 APN 19 12,013,337 (GRCm39) nonsense probably null
R0326:Or4d11 UTSW 19 12,013,525 (GRCm39) missense probably benign 0.00
R0369:Or4d11 UTSW 19 12,013,765 (GRCm39) missense probably benign 0.01
R0614:Or4d11 UTSW 19 12,013,929 (GRCm39) missense possibly damaging 0.93
R1940:Or4d11 UTSW 19 12,013,275 (GRCm39) missense probably benign 0.06
R1978:Or4d11 UTSW 19 12,013,705 (GRCm39) missense probably benign 0.06
R2013:Or4d11 UTSW 19 12,013,518 (GRCm39) missense probably damaging 1.00
R2179:Or4d11 UTSW 19 12,013,452 (GRCm39) missense probably damaging 1.00
R3972:Or4d11 UTSW 19 12,013,383 (GRCm39) missense probably damaging 0.98
R5051:Or4d11 UTSW 19 12,013,288 (GRCm39) missense possibly damaging 0.88
R5484:Or4d11 UTSW 19 12,013,192 (GRCm39) missense probably benign 0.01
R5518:Or4d11 UTSW 19 12,013,429 (GRCm39) missense probably damaging 0.97
R5729:Or4d11 UTSW 19 12,013,272 (GRCm39) missense probably damaging 0.99
R6151:Or4d11 UTSW 19 12,014,100 (GRCm39) missense probably benign 0.00
R6708:Or4d11 UTSW 19 12,014,103 (GRCm39) start codon destroyed probably null 1.00
R6723:Or4d11 UTSW 19 12,013,639 (GRCm39) missense probably damaging 1.00
R7103:Or4d11 UTSW 19 12,013,752 (GRCm39) missense probably damaging 0.99
R7385:Or4d11 UTSW 19 12,013,363 (GRCm39) missense probably benign 0.39
Posted On 2016-08-02