Incidental Mutation 'IGL02533:Olfr1104'
ID297405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1104
Ensembl Gene ENSMUSG00000075166
Gene Nameolfactory receptor 1104
SynonymsGA_x6K02T2Q125-48508763-48507833, MOR207-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.871) question?
Stock #IGL02533
Quality Score
Status
Chromosome2
Chromosomal Location87020703-87027080 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87022353 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 64 (S64C)
Ref Sequence ENSEMBL: ENSMUSP00000149240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099869] [ENSMUST00000214857] [ENSMUST00000215972]
Predicted Effect probably damaging
Transcript: ENSMUST00000099869
AA Change: S64C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: S64C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 9.3e-48 PFAM
Pfam:7tm_1 41 289 2.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214857
AA Change: S64C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215972
AA Change: S64C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Bach2 T C 4: 32,562,451 V306A probably benign Het
BC080695 A G 4: 143,571,002 probably benign Het
Cnga4 T C 7: 105,407,961 Y424H probably damaging Het
Cops9 T C 1: 92,639,716 E79G possibly damaging Het
Crebbp T C 16: 4,107,432 N769D probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd4b A T 3: 90,272,310 H636L probably benign Het
Dpysl3 T C 18: 43,325,794 T632A probably benign Het
Gabbr1 C T 17: 37,072,147 R857C probably damaging Het
Gbp10 A T 5: 105,220,035 V424D probably damaging Het
Gnptg T C 17: 25,235,455 E146G possibly damaging Het
Has2 A T 15: 56,681,695 H170Q probably benign Het
Il22ra1 G A 4: 135,744,723 G190D possibly damaging Het
Lhcgr T C 17: 88,742,410 T563A probably benign Het
Mgat4b T A 11: 50,233,552 F413Y probably damaging Het
Mms22l T A 4: 24,581,099 probably benign Het
Muc19 C T 15: 91,898,047 noncoding transcript Het
Ncoa7 A C 10: 30,722,785 D47E probably damaging Het
Ncoa7 A T 10: 30,690,899 S545R possibly damaging Het
Nme1 A G 11: 93,959,431 Y142H possibly damaging Het
Olfr1404 A T 1: 173,216,061 M137L probably damaging Het
Olfr193 T A 16: 59,109,684 T309S probably benign Het
Per2 A G 1: 91,431,002 I587T possibly damaging Het
Pias3 A G 3: 96,699,616 D65G possibly damaging Het
Prkacb T C 3: 146,732,696 I304M possibly damaging Het
Ripor2 G T 13: 24,701,395 E538* probably null Het
Sart1 G A 19: 5,383,721 R363* probably null Het
Serpinb3a T G 1: 107,047,162 I214L probably benign Het
Spon2 C A 5: 33,214,598 C288F probably damaging Het
Tmprss11a G A 5: 86,414,527 R320C probably damaging Het
Trpm5 T A 7: 143,089,545 I22F probably benign Het
Ube3a T C 7: 59,304,832 F818L probably damaging Het
Vmn1r120 T G 7: 21,053,138 Q216P probably damaging Het
Vmn2r4 A C 3: 64,398,419 Y527* probably null Het
Zfp618 A T 4: 63,089,405 Y125F probably damaging Het
Other mutations in Olfr1104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Olfr1104 APN 2 87021884 missense probably damaging 1.00
IGL02662:Olfr1104 APN 2 87022002 missense probably benign 0.09
IGL02704:Olfr1104 APN 2 87022277 missense probably benign 0.00
R0145:Olfr1104 UTSW 2 87021790 nonsense probably null
R0625:Olfr1104 UTSW 2 87021620 missense probably benign
R1169:Olfr1104 UTSW 2 87021717 missense probably damaging 1.00
R1570:Olfr1104 UTSW 2 87022272 missense probably benign
R1727:Olfr1104 UTSW 2 87022263 missense probably damaging 1.00
R2146:Olfr1104 UTSW 2 87021665 missense probably damaging 1.00
R2192:Olfr1104 UTSW 2 87022511 missense probably benign 0.01
R3716:Olfr1104 UTSW 2 87022363 nonsense probably null
R3818:Olfr1104 UTSW 2 87021710 missense probably benign 0.02
R4711:Olfr1104 UTSW 2 87022026 missense probably damaging 1.00
R6104:Olfr1104 UTSW 2 87021713 missense probably damaging 1.00
R6482:Olfr1104 UTSW 2 87022525 missense probably benign 0.00
R7474:Olfr1104 UTSW 2 87022554 start gained probably benign
R7517:Olfr1104 UTSW 2 87022142 missense probably benign 0.45
R7610:Olfr1104 UTSW 2 87021797 missense possibly damaging 0.59
R7944:Olfr1104 UTSW 2 87022313 missense probably benign 0.01
R7945:Olfr1104 UTSW 2 87022313 missense probably benign 0.01
R8235:Olfr1104 UTSW 2 87021882 missense probably benign 0.36
X0019:Olfr1104 UTSW 2 87021635 missense probably benign 0.00
Z1177:Olfr1104 UTSW 2 87021618 missense probably benign 0.02
Posted On2015-04-16