Incidental Mutation 'IGL02695:Or2d4'
ID 303892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2d4
Ensembl Gene ENSMUSG00000045581
Gene Name olfactory receptor family 2 subfamily D member 4
Synonyms MOR260-3, Olfr710, GA_x6K02T2PBJ9-9325348-9324416
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02695
Quality Score
Status
Chromosome 7
Chromosomal Location 106543274-106547519 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106543870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 113 (S113P)
Ref Sequence ENSEMBL: ENSMUSP00000062956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055923]
AlphaFold Q9EP55
Predicted Effect possibly damaging
Transcript: ENSMUST00000055923
AA Change: S113P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062956
Gene: ENSMUSG00000045581
AA Change: S113P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.1e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.9e-9 PFAM
Pfam:7tm_1 41 290 1.2e-23 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,287,929 (GRCm39) M389K probably benign Het
Adamts4 C A 1: 171,080,203 (GRCm39) T252K probably damaging Het
Adgrb2 G A 4: 129,912,625 (GRCm39) G1293D probably damaging Het
Ankfn1 T C 11: 89,282,645 (GRCm39) E1013G probably damaging Het
Ankrd34b C A 13: 92,576,120 (GRCm39) H451N possibly damaging Het
Cd300c2 C T 11: 114,892,379 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,919,946 (GRCm39) Q637P probably benign Het
Cpne6 A T 14: 55,752,037 (GRCm39) I265F probably damaging Het
Dot1l C A 10: 80,613,442 (GRCm39) T18K probably damaging Het
Fam83c T C 2: 155,673,435 (GRCm39) D251G probably benign Het
Fyb1 A G 15: 6,610,402 (GRCm39) K325R probably damaging Het
Gas2l2 T A 11: 83,313,468 (GRCm39) I615F probably damaging Het
Gigyf2 A G 1: 87,344,549 (GRCm39) N494S probably benign Het
Gnaz T C 10: 74,827,974 (GRCm39) probably null Het
Haus5 A T 7: 30,362,702 (GRCm39) L36Q probably damaging Het
Hecw2 C T 1: 53,965,368 (GRCm39) G486D possibly damaging Het
Hmcn2 T C 2: 31,298,985 (GRCm39) F2777S possibly damaging Het
Il1rl1 T C 1: 40,485,718 (GRCm39) S290P possibly damaging Het
Itgam G T 7: 127,685,113 (GRCm39) A409S possibly damaging Het
Kdm5b T A 1: 134,532,223 (GRCm39) M467K possibly damaging Het
Lama2 A C 10: 26,876,771 (GRCm39) V2725G probably benign Het
Lhpp G A 7: 132,252,063 (GRCm39) R234Q probably damaging Het
Maf1 T C 15: 76,236,955 (GRCm39) S65P possibly damaging Het
Mgat5 T A 1: 127,339,868 (GRCm39) H416Q probably damaging Het
Mta2 A G 19: 8,925,728 (GRCm39) T408A probably benign Het
Neb T A 2: 52,145,603 (GRCm39) I2974F probably damaging Het
Neb C T 2: 52,101,608 (GRCm39) probably benign Het
Or1j19 C T 2: 36,677,332 (GRCm39) S265L possibly damaging Het
Or52p1 A G 7: 104,267,678 (GRCm39) H264R probably damaging Het
Or5w22 C T 2: 87,362,461 (GRCm39) T28I probably benign Het
Pcca T A 14: 122,820,150 (GRCm39) probably benign Het
Prlr T C 15: 10,328,451 (GRCm39) F309L probably benign Het
Slc28a1 A T 7: 80,817,739 (GRCm39) Y536F probably benign Het
Slco1a8 A G 6: 141,933,486 (GRCm39) V433A probably damaging Het
Stab1 T A 14: 30,881,228 (GRCm39) N601Y probably damaging Het
Stil G T 4: 114,873,372 (GRCm39) V332F probably damaging Het
Stk11 A G 10: 79,961,311 (GRCm39) probably null Het
Tmem59 A G 4: 107,050,511 (GRCm39) N147S probably benign Het
Other mutations in Or2d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Or2d4 APN 7 106,543,748 (GRCm39) missense possibly damaging 0.77
IGL01534:Or2d4 APN 7 106,543,546 (GRCm39) missense probably damaging 1.00
IGL02041:Or2d4 APN 7 106,543,320 (GRCm39) missense possibly damaging 0.78
IGL02414:Or2d4 APN 7 106,543,965 (GRCm39) missense probably benign 0.33
IGL03167:Or2d4 APN 7 106,543,852 (GRCm39) missense probably damaging 0.99
IGL03242:Or2d4 APN 7 106,544,125 (GRCm39) missense possibly damaging 0.59
R1985:Or2d4 UTSW 7 106,544,133 (GRCm39) missense probably benign 0.00
R2234:Or2d4 UTSW 7 106,543,827 (GRCm39) missense probably damaging 1.00
R3414:Or2d4 UTSW 7 106,543,383 (GRCm39) nonsense probably null
R3731:Or2d4 UTSW 7 106,543,684 (GRCm39) missense probably damaging 0.99
R3777:Or2d4 UTSW 7 106,543,519 (GRCm39) missense probably benign 0.05
R4646:Or2d4 UTSW 7 106,543,547 (GRCm39) missense probably benign 0.01
R4647:Or2d4 UTSW 7 106,543,547 (GRCm39) missense probably benign 0.01
R4661:Or2d4 UTSW 7 106,544,074 (GRCm39) missense probably damaging 0.98
R4679:Or2d4 UTSW 7 106,544,152 (GRCm39) missense probably benign 0.10
R5200:Or2d4 UTSW 7 106,544,187 (GRCm39) missense possibly damaging 0.77
R5495:Or2d4 UTSW 7 106,543,699 (GRCm39) nonsense probably null
R6744:Or2d4 UTSW 7 106,543,741 (GRCm39) missense probably damaging 1.00
R6908:Or2d4 UTSW 7 106,543,839 (GRCm39) missense possibly damaging 0.82
R7463:Or2d4 UTSW 7 106,543,380 (GRCm39) missense probably damaging 0.99
R7498:Or2d4 UTSW 7 106,543,575 (GRCm39) missense possibly damaging 0.93
R8686:Or2d4 UTSW 7 106,543,905 (GRCm39) missense probably benign 0.01
R9283:Or2d4 UTSW 7 106,543,806 (GRCm39) missense probably benign 0.01
RF003:Or2d4 UTSW 7 106,543,855 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16