Incidental Mutation 'IGL02704:Olfr1104'
ID304283
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: 0.855) question?
Stock #IGL02704
Quality Score
Status
Chromosome2
Chromosomal Location87020703-87027080 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87022277 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 89 (Q89R)
Ref Sequence ENSEMBL: ENSMUSP00000149240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099869] [ENSMUST00000214857] [ENSMUST00000215972]
Predicted Effect probably benign
Transcript: ENSMUST00000099869
AA Change: Q89R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: Q89R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 9.3e-48 PFAM
Pfam:7tm_1 41 289 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214857
AA Change: Q89R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000215972
AA Change: Q89R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Ddah2 C A 17: 35,061,007 D158E possibly damaging Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Hpgds A T 6: 65,123,637 L119* probably null Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Olfr954 T C 9: 39,462,283 V284A probably damaging Het
Onecut1 A G 9: 74,863,030 N245S probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Pou1f1 A T 16: 65,529,799 Q121L possibly damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Tmem217 A T 17: 29,526,558 V66D probably damaging Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign Het
Other mutations in Olfr1104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Olfr1104 APN 2 87021884 missense probably damaging 1.00
IGL02533:Olfr1104 APN 2 87022353 missense probably damaging 1.00
IGL02662:Olfr1104 APN 2 87022002 missense probably benign 0.09
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
X0019:Olfr1104 UTSW 2 87021635 missense probably benign 0.00
Z1177:Olfr1104 UTSW 2 87021618 missense probably benign 0.02
Posted On2015-04-16