Incidental Mutation 'R8473:Or8d4'
ID 657126
Institutional Source Beutler Lab
Gene Symbol Or8d4
Ensembl Gene ENSMUSG00000049073
Gene Name olfactory receptor family 8 subfamily D member 4
Synonyms Olfr985, mOR171-4, GA_x6K02T2PVTD-33825763-33824828
MMRRC Submission 067917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R8473 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40038220-40039335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40038506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 250 (I250M)
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: I250M

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058372
Gene: ENSMUSG00000049073
AA Change: I250M

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: I250M

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (33/33)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T C 17: 65,141,513 (GRCm39) D30G unknown Het
Acad12 T C 5: 121,745,538 (GRCm39) D251G probably damaging Het
Adamts15 T A 9: 30,816,085 (GRCm39) T625S probably damaging Het
Atg13 A T 2: 91,518,993 (GRCm39) L151M probably damaging Het
Atp5f1a T C 18: 77,867,625 (GRCm39) F250L probably damaging Het
Blnk T C 19: 40,940,854 (GRCm39) E183G possibly damaging Het
Csf3 T C 11: 98,592,928 (GRCm39) L97P probably damaging Het
Derl2 A G 11: 70,910,035 (GRCm39) Y10H probably damaging Het
Dgkb A G 12: 38,234,939 (GRCm39) N435D probably damaging Het
Dpy19l2 C A 9: 24,492,526 (GRCm39) V691L probably benign Het
Exoc5 T C 14: 49,256,860 (GRCm39) S509G probably null Het
Fancg A G 4: 43,004,963 (GRCm39) I410T probably damaging Het
Fsip2 G A 2: 82,777,336 (GRCm39) G121D probably damaging Het
Gfm1 T C 3: 67,361,051 (GRCm39) S458P possibly damaging Het
Gm6882 A T 7: 21,161,440 (GRCm39) Y143N probably damaging Het
Grm5 T A 7: 87,252,278 (GRCm39) M176K probably damaging Het
Herc6 T A 6: 57,624,099 (GRCm39) V623D probably damaging Het
Hmcn1 G T 1: 150,479,551 (GRCm39) P4638T possibly damaging Het
Il27ra A G 8: 84,768,735 (GRCm39) Y62H probably benign Het
Kcnh8 A T 17: 53,285,320 (GRCm39) S1097C probably benign Het
Kif19a T G 11: 114,678,377 (GRCm39) S677A probably damaging Het
Lrrc37 T C 11: 103,434,266 (GRCm39) T792A unknown Het
Pcdhgb7 T A 18: 37,886,852 (GRCm39) V674D probably benign Het
Pik3r6 A G 11: 68,417,207 (GRCm39) S50G probably benign Het
Ptpn12 T C 5: 21,203,357 (GRCm39) T474A probably benign Het
Rbbp6 T C 7: 122,600,421 (GRCm39) probably benign Het
Scaper T C 9: 55,458,131 (GRCm39) Y880C probably damaging Het
Smc5 A T 19: 23,221,446 (GRCm39) V361D probably benign Het
Stag1 T A 9: 100,762,840 (GRCm39) H480Q probably damaging Het
Tdpoz2 T C 3: 93,559,153 (GRCm39) E273G probably damaging Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Tmx4 T C 2: 134,451,444 (GRCm39) T170A probably benign Het
Vmn1r59 A T 7: 5,457,064 (GRCm39) M232K possibly damaging Het
Wdr20rt A G 12: 65,273,380 (GRCm39) D180G probably damaging Het
Other mutations in Or8d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02821:Or8d4 APN 9 40,038,561 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTCAGATTGCTTTGAAGGAG -3'
(R):5'- GCTCCAGCACTTACATTGACG -3'

Sequencing Primer
(F):5'- GGGAATCACTGTGGTGTA -3'
(R):5'- CCAGCACTTACATTGACGAACTTTTG -3'
Posted On 2021-01-18