Incidental Mutation 'R6729:Or4d1'
ID 529982
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 044847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R6729 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 87804746-87805829 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 87805676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 19 (Q19*)
Ref Sequence ENSEMBL: ENSMUSP00000149264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
AlphaFold Q5SW48
Predicted Effect probably null
Transcript: ENSMUST00000074874
AA Change: Q19*
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: Q19*

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.3e-42 PFAM
Pfam:7tm_1 41 287 3.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215062
Predicted Effect probably null
Transcript: ENSMUST00000216461
AA Change: Q19*
Predicted Effect probably null
Transcript: ENSMUST00000217112
AA Change: Q19*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (34/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A T 5: 121,745,998 (GRCm39) H230Q probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,644,755 (GRCm39) V73A probably damaging Het
Apbb1 A T 7: 105,214,588 (GRCm39) M28K probably damaging Het
Atp6v1f A G 6: 29,467,964 (GRCm39) D50G probably benign Het
Bltp3b T A 10: 89,641,546 (GRCm39) S906T probably benign Het
Cdkal1 G A 13: 29,658,678 (GRCm39) T356M probably damaging Het
Clca3a1 A G 3: 144,711,727 (GRCm39) I756T probably damaging Het
Cplane1 T C 15: 8,218,085 (GRCm39) probably null Het
Cyp17a1 A G 19: 46,659,020 (GRCm39) V207A probably benign Het
Dnah7c A G 1: 46,711,681 (GRCm39) E2636G possibly damaging Het
Gm13090 A T 4: 151,174,085 (GRCm39) probably benign Het
Nceh1 T A 3: 27,295,420 (GRCm39) L227* probably null Het
Nedd9 A G 13: 41,469,278 (GRCm39) M625T probably damaging Het
Or10n1 A T 9: 39,525,069 (GRCm39) M69L probably benign Het
Or4d10c T A 19: 12,065,860 (GRCm39) M99L probably benign Het
Or8b53 A G 9: 38,667,124 (GRCm39) I47V probably benign Het
Pcsk4 T C 10: 80,160,935 (GRCm39) N297S probably damaging Het
Psg21 T A 7: 18,386,516 (GRCm39) I157F probably damaging Het
Rabep2 T C 7: 126,039,369 (GRCm39) V294A probably benign Het
Rsph1 A G 17: 31,496,226 (GRCm39) S2P unknown Het
Sacs A G 14: 61,447,967 (GRCm39) K3338E probably damaging Het
Slc35f4 T G 14: 49,556,417 (GRCm39) N112T probably benign Het
Slc43a3 T C 2: 84,768,629 (GRCm39) F83L probably damaging Het
Slc6a15 T C 10: 103,229,775 (GRCm39) V154A probably damaging Het
Synj2 T A 17: 6,036,289 (GRCm39) M1K probably null Het
Tcp1 G A 17: 13,142,140 (GRCm39) R378Q probably damaging Het
Tead2 A G 7: 44,866,658 (GRCm39) T6A probably benign Het
Tpte G T 8: 22,845,491 (GRCm39) V514L probably damaging Het
Trpm6 A G 19: 18,807,661 (GRCm39) N1069D probably damaging Het
Vmn2r105 C A 17: 20,428,605 (GRCm39) G824C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp934 A T 13: 62,640,746 (GRCm39) N2K probably 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
R8289:Or4d1 UTSW 11 87,805,589 (GRCm39) missense probably benign 0.07
R8328:Or4d1 UTSW 11 87,804,985 (GRCm39) missense possibly damaging 0.50
R8363:Or4d1 UTSW 11 87,805,069 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCCACCAGCATCTTGGG -3'
(R):5'- TGACCAATTCAACACTGATCCTG -3'

Sequencing Primer
(F):5'- CAGCATCTTGGGGGAGGTGAC -3'
(R):5'- ATTCAACACTGATCCTGCAAAG -3'
Posted On 2018-08-01