Incidental Mutation 'IGL02490:Olfr1138'
ID295563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1138
Ensembl Gene ENSMUSG00000075149
Gene Nameolfactory receptor 1138
SynonymsGA_x6K02T2Q125-49242149-49241214, MOR177-8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL02490
Quality Score
Status
Chromosome2
Chromosomal Location87736747-87739978 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87737955 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 123 (Y123C)
Ref Sequence ENSEMBL: ENSMUSP00000148941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099848] [ENSMUST00000214573]
Predicted Effect probably damaging
Transcript: ENSMUST00000099848
AA Change: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097435
Gene: ENSMUSG00000075149
AA Change: Y123C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.3e-45 PFAM
Pfam:7tm_1 41 290 1.5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214573
AA Change: Y123C

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,101,577 noncoding transcript Het
Adam5 A T 8: 24,781,704 Y562* probably null Het
Akr1d1 T C 6: 37,558,488 V269A probably damaging Het
Anks4b A G 7: 120,174,018 T34A probably damaging Het
Arhgef40 A G 14: 51,989,195 N232S probably damaging Het
Cdc40 C T 10: 40,841,771 V379I probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh13 A G 8: 119,095,323 D307G probably damaging Het
Ces1h A G 8: 93,356,999 probably null Het
Chchd6 T A 6: 89,384,674 H249L possibly damaging Het
Cul1 T C 6: 47,514,886 V392A probably damaging Het
Cwc15 A T 9: 14,502,024 D34V probably damaging Het
Cyp2c39 T C 19: 39,539,002 I264T probably damaging Het
Dapk1 A G 13: 60,749,334 D789G probably damaging Het
Dcdc2a T A 13: 25,107,652 Y207N probably damaging Het
Efcab1 T A 16: 14,916,946 V60E probably benign Het
Flt3 T A 5: 147,331,296 N960Y probably damaging Het
Fmn1 C T 2: 113,529,472 probably benign Het
Foxm1 T A 6: 128,373,351 C400* probably null Het
Ftmt A C 18: 52,331,688 R25S probably benign Het
Guca1b T C 17: 47,389,265 probably benign Het
Hectd4 A T 5: 121,318,613 K680N possibly damaging Het
Hephl1 C A 9: 15,053,685 R1138L probably benign Het
Il1rl2 T A 1: 40,356,812 probably benign Het
Ints2 A T 11: 86,233,183 I593K possibly damaging Het
Iqcg T A 16: 33,035,567 K213* probably null Het
Kif1b T A 4: 149,204,208 S1259C probably benign Het
Klc1 C T 12: 111,781,776 T371M possibly damaging Het
Loxl4 T C 19: 42,604,830 T301A probably benign Het
Lrrc40 T C 3: 158,062,699 L497P probably damaging Het
Masp2 C T 4: 148,607,943 R298W possibly damaging Het
Myo5a A T 9: 75,136,455 Y242F probably damaging Het
Nup98 A G 7: 102,152,366 V784A probably damaging Het
Osbpl1a G T 18: 12,882,284 probably benign Het
Pcdh10 A G 3: 45,380,487 Y412C probably damaging Het
Pfkfb2 T A 1: 130,700,852 Y339F probably damaging Het
Plcb2 T C 2: 118,719,760 N172D probably damaging Het
Plec T C 15: 76,189,263 Y517C probably damaging Het
Plod2 G T 9: 92,586,842 A207S probably benign Het
Plxdc1 A T 11: 97,954,778 D229E probably benign Het
Ppp3cb A G 14: 20,531,658 probably null Het
Procr T C 2: 155,753,432 L52P probably damaging Het
Psme2b G T 11: 48,946,119 probably benign Het
Rgs22 G A 15: 36,054,847 A727V probably damaging Het
Rock2 T A 12: 16,948,563 W277R probably damaging Het
Rpl26 A G 11: 68,904,390 D112G probably damaging Het
Rxfp1 C A 3: 79,652,167 probably null Het
Sdr39u1 G A 14: 55,898,341 P98L probably damaging Het
Sgms1 T C 19: 32,160,143 K8E probably damaging Het
Stk31 T C 6: 49,417,535 V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,560,131 E79A probably benign Het
Ttll6 A T 11: 96,156,720 D715V possibly damaging Het
Ush2a T C 1: 188,810,364 S3376P probably damaging Het
Vmn2r109 T A 17: 20,540,984 T704S possibly damaging Het
Zfp27 T A 7: 29,894,935 H535L possibly damaging Het
Zfp609 A T 9: 65,703,968 V571D possibly damaging Het
Zfp874a A T 13: 67,442,700 Y288* probably null Het
Zfp993 T C 4: 146,657,617 S133P probably damaging Het
Other mutations in Olfr1138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02304:Olfr1138 APN 2 87737986 missense probably benign 0.01
IGL02730:Olfr1138 APN 2 87737641 missense probably damaging 1.00
IGL03106:Olfr1138 APN 2 87738118 missense probably benign 0.02
IGL03113:Olfr1138 APN 2 87738162 missense probably benign 0.01
R0450:Olfr1138 UTSW 2 87737481 missense probably damaging 0.98
R0469:Olfr1138 UTSW 2 87737481 missense probably damaging 0.98
R0510:Olfr1138 UTSW 2 87737481 missense probably damaging 0.98
R3696:Olfr1138 UTSW 2 87738016 missense probably benign
R3698:Olfr1138 UTSW 2 87738016 missense probably benign
R5149:Olfr1138 UTSW 2 87737405 missense probably benign
R5156:Olfr1138 UTSW 2 87737775 missense possibly damaging 0.95
R6245:Olfr1138 UTSW 2 87737896 missense possibly damaging 0.54
R6701:Olfr1138 UTSW 2 87737409 missense probably benign
R7170:Olfr1138 UTSW 2 87737712 missense probably damaging 0.99
R7185:Olfr1138 UTSW 2 87738145 missense probably damaging 1.00
R7260:Olfr1138 UTSW 2 87738508 intron probably null
Posted On2015-04-16