Incidental Mutation 'IGL01996:Olfr378'
ID 182890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr378
Ensembl Gene ENSMUSG00000055971
Gene Name olfactory receptor 378
Synonyms MOR135-2, GA_x6K02T2P1NL-3586282-3585338
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL01996
Quality Score
Status
Chromosome 11
Chromosomal Location 73424609-73428477 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73425968 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 5 (N5I)
Ref Sequence ENSEMBL: ENSMUSP00000066971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069790]
AlphaFold Q8VGT2
Predicted Effect probably damaging
Transcript: ENSMUST00000069790
AA Change: N5I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: N5I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.3e-55 PFAM
Pfam:7TM_GPCR_Srsx 35 297 7.9e-6 PFAM
Pfam:7tm_1 41 290 3.8e-25 PFAM
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,150,700 V29A possibly damaging Het
Adarb1 A G 10: 77,322,217 L132P probably damaging Het
Afg3l1 T G 8: 123,501,894 M733R probably damaging Het
Aox1 C T 1: 58,082,066 R899C probably benign Het
Arhgap44 T A 11: 65,005,496 probably benign Het
Asns T C 6: 7,682,378 D189G possibly damaging Het
Brap A G 5: 121,678,847 probably benign Het
Ccdc138 T A 10: 58,562,030 L564H probably damaging Het
Ccdc167 A G 17: 29,705,487 probably null Het
Ccdc178 A G 18: 22,097,756 Y353H probably damaging Het
Clca3b A T 3: 144,849,163 S41R probably benign Het
Dpep3 T C 8: 105,974,726 N397S probably damaging Het
Eif1 T C 11: 100,321,000 I83T probably benign Het
Enah A T 1: 181,956,505 W80R unknown Het
F2rl1 C T 13: 95,513,924 C150Y probably damaging Het
Fbxw24 T C 9: 109,605,372 R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 T68A probably benign Het
Greb1 T C 12: 16,690,845 K1412R possibly damaging Het
Grin2b T C 6: 135,732,586 S1321G probably damaging Het
Hist1h4j G A 13: 21,735,138 G15S unknown Het
Itgb7 C T 15: 102,217,977 G508D probably damaging Het
Kcnq3 A G 15: 66,023,696 I333T probably damaging Het
Knl1 A G 2: 119,104,061 D2115G probably damaging Het
Lmtk3 G A 7: 45,793,447 probably null Het
Lrpprc A G 17: 84,773,270 Y176H probably benign Het
Mier1 T C 4: 103,127,276 S22P possibly damaging Het
Mme A T 3: 63,343,549 N337I probably benign Het
Mthfd1 A G 12: 76,303,905 Y687C probably damaging Het
Nrp2 T C 1: 62,749,260 M373T probably damaging Het
Nudcd1 A T 15: 44,405,961 F101Y probably benign Het
Nup133 T A 8: 123,946,595 I66L probably benign Het
Olfr1406 T C 1: 173,183,727 T236A probably benign Het
Olfr736 T G 14: 50,393,659 M301R probably damaging Het
Osbpl5 A G 7: 143,707,344 probably null Het
Paqr8 T C 1: 20,935,404 F261L probably damaging Het
Plxna2 A G 1: 194,799,776 E1452G probably damaging Het
Polh T C 17: 46,173,001 D446G probably benign Het
Psg19 A T 7: 18,790,061 M353K possibly damaging Het
Sap25 T C 5: 137,641,818 probably null Het
Sap30l C T 11: 57,809,951 R144* probably null Het
Sema6b C T 17: 56,131,157 V144M probably damaging Het
Sfmbt2 T C 2: 10,440,026 Y228H probably benign Het
Shank2 A G 7: 144,411,493 D946G probably damaging Het
Slc11a1 T A 1: 74,376,806 L52Q possibly damaging Het
Sptlc3 T C 2: 139,581,504 probably benign Het
Tgfb1i1 T C 7: 128,249,292 probably benign Het
Tifa T C 3: 127,796,580 probably benign Het
Tomm40l C T 1: 171,219,655 V265M possibly damaging Het
Trim45 C A 3: 100,928,109 Y469* probably null Het
Ttc21a G T 9: 119,958,116 A730S probably damaging Het
Vmn1r18 A T 6: 57,390,016 D184E possibly damaging Het
Vmn2r120 A T 17: 57,525,222 I189N possibly damaging Het
Other mutations in Olfr378
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02427:Olfr378 APN 11 73425661 missense probably damaging 1.00
IGL03089:Olfr378 APN 11 73425183 missense probably benign
R0443:Olfr378 UTSW 11 73425755 missense probably damaging 1.00
R1497:Olfr378 UTSW 11 73425827 missense possibly damaging 0.88
R2005:Olfr378 UTSW 11 73425239 missense probably damaging 1.00
R2029:Olfr378 UTSW 11 73425362 missense probably benign 0.00
R2140:Olfr378 UTSW 11 73425881 missense probably damaging 0.98
R3551:Olfr378 UTSW 11 73425852 missense probably benign 0.00
R3552:Olfr378 UTSW 11 73425852 missense probably benign 0.00
R4433:Olfr378 UTSW 11 73425711 missense possibly damaging 0.50
R4546:Olfr378 UTSW 11 73425186 missense probably benign 0.23
R4686:Olfr378 UTSW 11 73425438 missense probably benign 0.35
R5168:Olfr378 UTSW 11 73425843 missense probably benign 0.01
R5567:Olfr378 UTSW 11 73425446 missense probably damaging 1.00
R5755:Olfr378 UTSW 11 73425731 missense probably benign 0.22
R7190:Olfr378 UTSW 11 73425164 missense probably benign 0.07
R7287:Olfr378 UTSW 11 73425843 missense probably benign 0.01
R7404:Olfr378 UTSW 11 73425593 missense probably damaging 1.00
R7462:Olfr378 UTSW 11 73425470 missense probably benign 0.06
R7544:Olfr378 UTSW 11 73425770 missense probably damaging 1.00
R7702:Olfr378 UTSW 11 73433349 unclassified probably benign
R8408:Olfr378 UTSW 11 73425968 missense probably damaging 1.00
R8977:Olfr378 UTSW 11 73425825 missense probably benign 0.02
X0010:Olfr378 UTSW 11 73425151 missense possibly damaging 0.59
Z1088:Olfr378 UTSW 11 73425105 splice site probably benign 0.00
Posted On 2014-05-07