Incidental Mutation 'IGL02888:Olfr1412'
ID 363054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1412
Ensembl Gene ENSMUSG00000046300
Gene Name olfactory receptor 1412
Synonyms GA_x6K02T2R7CC-81165686-81164721, MOR208-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02888
Quality Score
Status
Chromosome 1
Chromosomal Location 92585779-92591375 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92589203 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 291 (L291P)
Ref Sequence ENSEMBL: ENSMUSP00000150943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062964] [ENSMUST00000190505]
AlphaFold Q8VET3
Predicted Effect probably damaging
Transcript: ENSMUST00000062964
AA Change: L291P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060291
Gene: ENSMUSG00000046300
AA Change: L291P

DomainStartEndE-ValueType
transmembrane domain 10 27 N/A INTRINSIC
Pfam:7tm_4 38 314 7.8e-47 PFAM
Pfam:7tm_1 48 321 1.4e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190505
AA Change: L291P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204141
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 43,651,573 H345R probably damaging Het
Afap1l1 T A 18: 61,748,808 Y272F probably damaging Het
AI661453 C A 17: 47,467,404 probably benign Het
Ajap1 T G 4: 153,432,261 I208L probably benign Het
Aldh3b2 G A 19: 3,980,083 V356M probably benign Het
Angptl7 T A 4: 148,496,331 probably benign Het
Atp2a3 G A 11: 72,977,128 probably benign Het
Birc2 T C 9: 7,819,558 D451G probably benign Het
Brpf3 G A 17: 28,828,391 R1043H probably damaging Het
Cd177 A G 7: 24,758,437 L132P probably damaging Het
Chsy3 A G 18: 59,409,995 D735G probably benign Het
Cldn8 A T 16: 88,562,383 I218K probably benign Het
Cltc T C 11: 86,757,297 probably benign Het
Col22a1 T C 15: 71,846,219 H619R unknown Het
Crxos G A 7: 15,902,930 E143K possibly damaging Het
Dcp1b A G 6: 119,220,087 probably benign Het
Ddc A G 11: 11,822,297 probably benign Het
Dnajc13 A T 9: 104,180,062 probably benign Het
Dnajc27 C T 12: 4,089,186 H75Y possibly damaging Het
Fgd3 C T 13: 49,281,816 probably null Het
Gcc2 A G 10: 58,294,828 D1414G probably damaging Het
Gtf3c2 G A 5: 31,173,825 P169L probably damaging Het
Ighv1-76 T A 12: 115,847,946 S96C probably damaging Het
Lmbrd1 T A 1: 24,714,972 I206K possibly damaging Het
Lypd5 A G 7: 24,352,619 S120G probably damaging Het
Mgat4b T A 11: 50,232,332 Y249N probably damaging Het
Msh4 A T 3: 153,896,913 L32* probably null Het
Muc4 A G 16: 32,755,282 probably benign Het
Myo6 A G 9: 80,269,731 probably benign Het
Nenf T C 1: 191,309,921 T113A probably benign Het
Nup85 A G 11: 115,578,800 D75G possibly damaging Het
Nutm1 A T 2: 112,250,635 L438Q probably damaging Het
Oas1h A T 5: 120,861,547 I32F probably benign Het
Oasl1 G A 5: 114,937,182 V434M probably damaging Het
Olfr448 A G 6: 42,897,329 N293D probably damaging Het
Pde2a C A 7: 101,505,069 H549Q probably damaging Het
Phkb G T 8: 85,935,472 probably null Het
Pigm T C 1: 172,377,647 C317R probably damaging Het
Ppl A T 16: 5,100,407 S470R possibly damaging Het
Pramef17 G A 4: 143,994,099 R91W probably benign Het
Slc13a4 A T 6: 35,268,840 D623E probably benign Het
Stx11 A G 10: 12,941,615 S122P possibly damaging Het
Sytl3 A G 17: 6,733,084 T218A probably benign Het
Tango6 A G 8: 106,720,665 D565G probably damaging Het
Tex14 T C 11: 87,527,912 probably null Het
Tinag T C 9: 77,031,713 D161G probably benign Het
Vcpip1 T C 1: 9,724,786 D1120G probably damaging Het
Zfp446 G A 7: 12,979,328 A98T probably damaging Het
Other mutations in Olfr1412
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Olfr1412 APN 1 92588972 missense possibly damaging 0.52
IGL02177:Olfr1412 APN 1 92588757 missense possibly damaging 0.96
IGL02507:Olfr1412 APN 1 92588926 missense possibly damaging 0.68
IGL03001:Olfr1412 APN 1 92588551 missense probably damaging 1.00
R1771:Olfr1412 UTSW 1 92589115 missense probably benign 0.03
R1780:Olfr1412 UTSW 1 92588389 missense probably benign 0.01
R2215:Olfr1412 UTSW 1 92588986 missense probably benign 0.00
R2437:Olfr1412 UTSW 1 92588966 missense possibly damaging 0.46
R3176:Olfr1412 UTSW 1 92588813 missense probably benign 0.32
R3177:Olfr1412 UTSW 1 92588813 missense probably benign 0.32
R3276:Olfr1412 UTSW 1 92588813 missense probably benign 0.32
R3277:Olfr1412 UTSW 1 92588813 missense probably benign 0.32
R4475:Olfr1412 UTSW 1 92588579 missense probably benign 0.00
R4892:Olfr1412 UTSW 1 92588921 missense probably benign 0.05
R5910:Olfr1412 UTSW 1 92588707 missense probably damaging 1.00
R6808:Olfr1412 UTSW 1 92589046 missense probably damaging 0.99
R7130:Olfr1412 UTSW 1 92588912 missense probably benign 0.10
R7476:Olfr1412 UTSW 1 92589264 missense probably benign
Z1088:Olfr1412 UTSW 1 92588551 missense probably damaging 1.00
Z1177:Olfr1412 UTSW 1 92588378 nonsense probably null
Posted On 2015-12-18