Incidental Mutation 'R8328:Or4d1'
ID 644211
Institutional Source Beutler Lab
Gene Symbol Or4d1
Ensembl Gene ENSMUSG00000060787
Gene Name olfactory receptor family 4 subfamily D member 1
Synonyms MOR240-2, Olfr464, GA_x6K02T2PAEV-9555122-9554181
MMRRC Submission 067727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 87804746-87805829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87804985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 249 (M249T)
Ref Sequence ENSEMBL: ENSMUSP00000149777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
AlphaFold Q5SW48
Predicted Effect possibly damaging
Transcript: ENSMUST00000074874
AA Change: M249T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: M249T

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.3e-42 PFAM
Pfam:7tm_1 41 287 3.8e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216461
AA Change: M249T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217112
AA Change: M249T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 A T 6: 92,866,993 (GRCm39) M682K probably benign Het
Ankdd1b T A 13: 96,591,374 (GRCm39) I42F possibly damaging Het
Ankrd6 C T 4: 32,810,215 (GRCm39) E489K probably benign Het
Arhgef28 A T 13: 98,187,517 (GRCm39) H259Q possibly damaging Het
Atosb T C 4: 43,034,751 (GRCm39) T323A probably benign Het
C3 T C 17: 57,527,973 (GRCm39) S749G probably benign Het
Celsr1 A G 15: 85,806,445 (GRCm39) S2338P probably benign Het
Ces2a A T 8: 105,463,998 (GRCm39) N210I probably damaging Het
Cuzd1 A T 7: 130,913,345 (GRCm39) V424D probably damaging Het
Cyp2j11 T A 4: 96,236,605 (GRCm39) H67L probably benign Het
Dennd5b A G 6: 148,922,115 (GRCm39) S800P probably damaging Het
Dmrta2 G T 4: 109,837,206 (GRCm39) L49F unknown Het
Dpy19l1 T A 9: 24,386,686 (GRCm39) K9* probably null Het
Dsc2 T C 18: 20,165,576 (GRCm39) H843R possibly damaging Het
Dsg1b T A 18: 20,510,007 (GRCm39) F6I probably benign Het
Hck C T 2: 152,970,987 (GRCm39) A83V probably damaging Het
Hdc T C 2: 126,443,803 (GRCm39) E292G probably damaging Het
Ighv1-23 A G 12: 114,728,116 (GRCm39) L102P probably damaging Het
Kdm3b G A 18: 34,926,123 (GRCm39) V88M probably damaging Het
Kremen2 A G 17: 23,961,745 (GRCm39) V254A probably benign Het
Lrrc8e T A 8: 4,285,641 (GRCm39) I622N probably damaging Het
Megf8 A G 7: 25,046,917 (GRCm39) N1600S probably benign Het
Mical3 A G 6: 120,912,138 (GRCm39) I1907T probably damaging Het
Nr4a3 T A 4: 48,051,323 (GRCm39) Y26N probably damaging Het
Nrl T C 14: 55,758,163 (GRCm39) E188G probably damaging Het
Or9e1 T A 11: 58,732,460 (GRCm39) D173E probably benign Het
Polr1a G A 6: 71,897,718 (GRCm39) E238K probably benign Het
Pramel26 A G 4: 143,537,380 (GRCm39) L317P probably damaging Het
Prr5 G C 15: 84,587,387 (GRCm39) *388S probably null Het
Rptor A G 11: 119,783,473 (GRCm39) T1156A probably benign Het
Slc9c1 T A 16: 45,398,227 (GRCm39) I664K probably damaging Het
Stn1 C A 19: 47,505,498 (GRCm39) R152L probably damaging Het
Syde2 T C 3: 145,721,496 (GRCm39) V1121A probably benign Het
Vmn1r158 T C 7: 22,489,487 (GRCm39) T241A probably damaging Het
Vmn1r209 C A 13: 22,990,643 (GRCm39) V16L probably benign Het
Wdr19 A G 5: 65,382,638 (GRCm39) E454G probably damaging Het
Zan C T 5: 137,392,726 (GRCm39) E4590K unknown Het
Zfp579 T G 7: 4,997,866 (GRCm39) H15P unknown Het
Zfp628 A G 7: 4,922,813 (GRCm39) N345S probably benign Het
Zfp944 T A 17: 22,558,705 (GRCm39) K181* probably null Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Or4d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Or4d1 APN 11 87,804,998 (GRCm39) missense probably benign 0.09
IGL02011:Or4d1 APN 11 87,805,708 (GRCm39) missense probably benign 0.01
IGL02218:Or4d1 APN 11 87,804,889 (GRCm39) missense probably damaging 1.00
IGL02977:Or4d1 APN 11 87,804,956 (GRCm39) missense possibly damaging 0.48
IGL03083:Or4d1 APN 11 87,804,914 (GRCm39) missense probably benign 0.00
IGL03154:Or4d1 APN 11 87,805,072 (GRCm39) missense possibly damaging 0.90
R0241:Or4d1 UTSW 11 87,804,860 (GRCm39) missense probably damaging 1.00
R0241:Or4d1 UTSW 11 87,804,860 (GRCm39) missense probably damaging 1.00
R4679:Or4d1 UTSW 11 87,805,136 (GRCm39) missense probably benign 0.13
R4734:Or4d1 UTSW 11 87,805,016 (GRCm39) missense probably damaging 1.00
R4939:Or4d1 UTSW 11 87,804,950 (GRCm39) missense probably damaging 1.00
R5917:Or4d1 UTSW 11 87,805,215 (GRCm39) missense probably damaging 1.00
R6729:Or4d1 UTSW 11 87,805,676 (GRCm39) nonsense probably null
R8289:Or4d1 UTSW 11 87,805,589 (GRCm39) missense probably benign 0.07
R8363:Or4d1 UTSW 11 87,805,069 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTCTGTCATTGAAAGGCAATCTG -3'
(R):5'- AGTACTGAGACTTGCCTGCAC -3'

Sequencing Primer
(F):5'- CTTTTAGTAAGTACCAAGTGTTCTGC -3'
(R):5'- AGACTTGCCTGCACGGACAC -3'
Posted On 2020-09-02