Incidental Mutation 'IGL01534:Or2d4'
ID 89877
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 # IGL01534
Quality Score
Chromosome 7
Chromosomal Location 106543274-106547519 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106543546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 221 (I221F)
Ref Sequence ENSEMBL: ENSMUSP00000062956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055923]
AlphaFold Q9EP55
Predicted Effect probably damaging
Transcript: ENSMUST00000055923
AA Change: I221F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062956
Gene: ENSMUSG00000045581
AA Change: I221F

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,146 (GRCm39) L111P possibly damaging Het
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Gabrb1 T A 5: 72,026,772 (GRCm39) S91T possibly damaging Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Idh3a T A 9: 54,508,506 (GRCm39) probably benign Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Shox2 A C 3: 66,885,696 (GRCm39) D126E probably benign Het
Slc12a1 A G 2: 125,059,830 (GRCm39) D910G probably damaging Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Tubb3 C T 8: 124,147,705 (GRCm39) R213C probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably damaging Het
Other mutations in Or2d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Or2d4 APN 7 106,543,748 (GRCm39) missense possibly damaging 0.77
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
IGL02695:Or2d4 APN 7 106,543,870 (GRCm39) missense possibly damaging 0.93
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 2013-12-03