Incidental Mutation 'IGL01395:Or1d2'
ID 79378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1d2
Ensembl Gene ENSMUSG00000058275
Gene Name olfactory receptor family 1 subfamily D member 2
Synonyms Olfr412, GA_x6K02T2P1NL-4500587-4501525, MOR127-5P
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # IGL01395
Quality Score
Status
Chromosome 11
Chromosomal Location 74255497-74256435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74255713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 73 (F73L)
Ref Sequence ENSEMBL: ENSMUSP00000149922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077794] [ENSMUST00000216362]
AlphaFold Q7TRW7
Predicted Effect probably damaging
Transcript: ENSMUST00000077794
AA Change: F73L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: F73L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 172 1.8e-8 PFAM
Pfam:7tm_1 41 289 3.8e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216362
AA Change: F73L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Or1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Or1d2 APN 11 74,255,738 (GRCm39) missense possibly damaging 0.82
IGL01418:Or1d2 APN 11 74,255,810 (GRCm39) missense possibly damaging 0.85
IGL01645:Or1d2 APN 11 74,256,359 (GRCm39) missense possibly damaging 0.95
IGL02421:Or1d2 APN 11 74,256,017 (GRCm39) missense probably damaging 1.00
IGL02424:Or1d2 APN 11 74,256,299 (GRCm39) missense probably benign 0.09
R0206:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R0206:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R0278:Or1d2 UTSW 11 74,256,028 (GRCm39) missense probably damaging 1.00
R0698:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R1424:Or1d2 UTSW 11 74,255,780 (GRCm39) missense probably benign 0.05
R1549:Or1d2 UTSW 11 74,256,076 (GRCm39) missense probably benign 0.00
R1659:Or1d2 UTSW 11 74,255,759 (GRCm39) missense probably benign 0.01
R1755:Or1d2 UTSW 11 74,255,819 (GRCm39) missense probably damaging 1.00
R2031:Or1d2 UTSW 11 74,255,777 (GRCm39) missense probably damaging 1.00
R2185:Or1d2 UTSW 11 74,255,572 (GRCm39) missense probably benign
R3620:Or1d2 UTSW 11 74,256,050 (GRCm39) missense probably damaging 1.00
R4568:Or1d2 UTSW 11 74,256,035 (GRCm39) missense probably damaging 0.99
R4878:Or1d2 UTSW 11 74,255,674 (GRCm39) missense probably damaging 1.00
R7779:Or1d2 UTSW 11 74,255,771 (GRCm39) missense probably damaging 1.00
R8086:Or1d2 UTSW 11 74,255,780 (GRCm39) missense probably benign 0.05
R9155:Or1d2 UTSW 11 74,255,791 (GRCm39) missense probably benign 0.03
R9396:Or1d2 UTSW 11 74,256,089 (GRCm39) missense probably benign 0.01
R9750:Or1d2 UTSW 11 74,255,858 (GRCm39) missense possibly damaging 0.84
Posted On 2013-11-05