Incidental Mutation 'IGL02821:Or8d4'
ID 361007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8d4
Ensembl Gene ENSMUSG00000049073
Gene Name olfactory receptor family 8 subfamily D member 4
Synonyms Olfr985, mOR171-4, GA_x6K02T2PVTD-33825763-33824828
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL02821
Quality Score
Status
Chromosome 9
Chromosomal Location 40038220-40039335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 40038561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 232 (E232A)
Ref Sequence ENSEMBL: ENSMUSP00000149371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060345] [ENSMUST00000214981]
AlphaFold Q8VGB4
Predicted Effect probably benign
Transcript: ENSMUST00000060345
AA Change: E232A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000058372
Gene: ENSMUSG00000049073
AA Change: E232A

DomainStartEndE-ValueType
Pfam:7tm_4 28 308 2.1e-56 PFAM
Pfam:7tm_1 41 290 7.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214981
AA Change: E232A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Ccm2l C T 2: 152,909,779 (GRCm39) L44F probably damaging Het
Cd177 A T 7: 24,443,818 (GRCm39) L760Q probably damaging Het
Cd177 G T 7: 24,443,819 (GRCm39) L760M probably damaging Het
Cfap69 T C 5: 5,714,017 (GRCm39) E5G probably benign Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Evc T A 5: 37,483,740 (GRCm39) I187F probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Slc46a3 G A 5: 147,822,822 (GRCm39) T340M probably benign Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,470,458 (GRCm39) N310S probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P probably damaging Het
Other mutations in Or8d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4514001:Or8d4 UTSW 9 40,038,595 (GRCm39) missense probably damaging 1.00
R4025:Or8d4 UTSW 9 40,038,796 (GRCm39) missense probably benign 0.34
R4613:Or8d4 UTSW 9 40,039,018 (GRCm39) nonsense probably null
R4876:Or8d4 UTSW 9 40,038,514 (GRCm39) missense probably damaging 1.00
R7772:Or8d4 UTSW 9 40,038,661 (GRCm39) missense probably benign 0.01
R8127:Or8d4 UTSW 9 40,038,360 (GRCm39) missense probably benign 0.00
R8393:Or8d4 UTSW 9 40,038,360 (GRCm39) missense probably benign 0.00
R8473:Or8d4 UTSW 9 40,038,506 (GRCm39) missense probably benign 0.03
R8940:Or8d4 UTSW 9 40,038,480 (GRCm39) missense probably damaging 0.99
R9187:Or8d4 UTSW 9 40,038,886 (GRCm39) missense possibly damaging 0.67
Posted On 2015-12-18