Incidental Mutation 'IGL01583:Olfr101'
ID278586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr101
Ensembl Gene ENSMUSG00000092077
Gene Nameolfactory receptor 101
SynonymsGA_x6K02T2PSCP-1761617-1760691, MOR250-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01583
Quality Score
Status
Chromosome17
Chromosomal Location37297556-37304313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 37299738 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 228 (R228H)
Ref Sequence ENSEMBL: ENSMUSP00000149851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058046] [ENSMUST00000214376] [ENSMUST00000215392]
Predicted Effect probably benign
Transcript: ENSMUST00000058046
AA Change: R228H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061042
Gene: ENSMUSG00000092077
AA Change: R228H

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 3.3e-53 PFAM
Pfam:7tm_1 39 289 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214376
AA Change: R228H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215392
AA Change: R228H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Olfr101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Olfr101 APN 17 37299738 missense probably benign 0.00
IGL01609:Olfr101 APN 17 37299738 missense probably benign 0.00
IGL01739:Olfr101 APN 17 37299782 missense probably benign 0.00
IGL03203:Olfr101 APN 17 37300426 splice site probably benign
R1122:Olfr101 UTSW 17 37300128 missense probably damaging 1.00
R1132:Olfr101 UTSW 17 37299532 missense probably benign 0.19
R1237:Olfr101 UTSW 17 37300265 missense probably benign 0.19
R3423:Olfr101 UTSW 17 37299870 missense probably benign 0.00
R3872:Olfr101 UTSW 17 37299979 missense probably benign 0.00
R3873:Olfr101 UTSW 17 37299979 missense probably benign 0.00
R3874:Olfr101 UTSW 17 37299979 missense probably benign 0.00
R4871:Olfr101 UTSW 17 37300204 missense probably benign 0.03
R5213:Olfr101 UTSW 17 37300051 missense probably damaging 0.98
R5974:Olfr101 UTSW 17 37300338 missense possibly damaging 0.65
R6294:Olfr101 UTSW 17 37299553 missense probably benign 0.02
Posted On2015-04-16