Incidental Mutation 'IGL02426:Olfr1281'
ID292895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1281
Ensembl Gene ENSMUSG00000095156
Gene Nameolfactory receptor 1281
SynonymsGA_x6K02T2Q125-72379864-72380781, MOR248-18, MOR248-14P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02426
Quality Score
Status
Chromosome2
Chromosomal Location111326520-111332852 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111328575 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 52 (D52V)
Ref Sequence ENSEMBL: ENSMUSP00000151304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090326] [ENSMUST00000208176] [ENSMUST00000213551]
Predicted Effect probably damaging
Transcript: ENSMUST00000090326
AA Change: D52V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087798
Gene: ENSMUSG00000095156
AA Change: D52V

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.8e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 301 2.6e-6 PFAM
Pfam:7tm_1 41 287 4.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208176
AA Change: D52V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000213551
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,338,925 T1294M probably damaging Het
Bad A G 19: 6,951,417 S128G probably damaging Het
Casp9 T G 4: 141,812,204 probably null Het
Ccdc39 T C 3: 33,825,398 K507R possibly damaging Het
Cep76 A G 18: 67,634,917 S182P probably benign Het
Cmtr2 A G 8: 110,221,690 M211V possibly damaging Het
Cobl T A 11: 12,254,351 K777* probably null Het
Cul9 T G 17: 46,523,258 T1253P possibly damaging Het
Dmd T A X: 84,848,736 L3002H probably damaging Het
Dnah9 C T 11: 66,125,153 V421I probably benign Het
Eif4a2 A G 16: 23,110,649 I234V probably benign Het
Epha4 T C 1: 77,444,877 M323V probably benign Het
Fam47c A G X: 78,738,337 D175G probably benign Het
Gm13101 T C 4: 143,966,659 D83G possibly damaging Het
Gm14178 T C 11: 99,747,515 Het
Gpr1 T C 1: 63,183,668 Y136C probably damaging Het
Hes3 T C 4: 152,286,940 N184S probably benign Het
Kdm6a A G X: 18,246,310 E45G probably damaging Het
Kdr T C 5: 75,974,466 K33E probably benign Het
Olfr1097 A G 2: 86,890,620 L185S probably damaging Het
Olfr1295 A T 2: 111,564,538 I302K probably benign Het
Olfr437 A C 6: 43,167,088 D10A probably benign Het
Olfr503 A G 7: 108,544,980 T150A probably benign Het
Pi4ka A T 16: 17,378,432 probably benign Het
Pigk T A 3: 152,742,483 probably null Het
Pikfyve A G 1: 65,251,612 T1197A possibly damaging Het
Plppr4 T C 3: 117,322,295 I638V probably benign Het
Rtl9 T C X: 143,103,102 V1170A probably damaging Het
Ryr3 A G 2: 112,900,905 S687P possibly damaging Het
Skint5 T C 4: 113,940,784 T201A probably benign Het
Socs5 G T 17: 87,134,892 R420L probably damaging Het
Sos1 C T 17: 80,434,943 S385N possibly damaging Het
Tomm34 A T 2: 164,064,955 V106D probably damaging Het
Tubal3 T C 13: 3,932,750 S177P probably damaging Het
Wbp2nl G A 15: 82,306,173 A101T probably damaging Het
Other mutations in Olfr1281
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02550:Olfr1281 APN 2 111328500 missense probably damaging 1.00
IGL02553:Olfr1281 APN 2 111328988 missense probably benign
IGL02719:Olfr1281 APN 2 111329245 nonsense probably null
IGL02750:Olfr1281 APN 2 111329288 missense probably damaging 1.00
IGL02873:Olfr1281 APN 2 111328872 missense probably benign
IGL03252:Olfr1281 APN 2 111328780 nonsense probably null
IGL03375:Olfr1281 APN 2 111328884 missense probably damaging 1.00
R0055:Olfr1281 UTSW 2 111328525 nonsense probably null
R0368:Olfr1281 UTSW 2 111328787 missense probably damaging 0.99
R0497:Olfr1281 UTSW 2 111328830 missense probably benign 0.00
R0505:Olfr1281 UTSW 2 111329328 missense probably benign 0.00
R1557:Olfr1281 UTSW 2 111328619 missense probably damaging 1.00
R1619:Olfr1281 UTSW 2 111328961 missense probably benign 0.02
R1691:Olfr1281 UTSW 2 111328853 missense probably benign 0.03
R2286:Olfr1281 UTSW 2 111328907 missense probably benign 0.01
R4230:Olfr1281 UTSW 2 111329130 missense probably damaging 1.00
R4274:Olfr1281 UTSW 2 111328815 missense probably damaging 0.98
R4305:Olfr1281 UTSW 2 111329298 missense probably null 0.82
R4495:Olfr1281 UTSW 2 111329020 missense probably benign 0.08
R5307:Olfr1281 UTSW 2 111328396 splice site probably null
R6115:Olfr1281 UTSW 2 111329213 missense probably benign 0.03
R6615:Olfr1281 UTSW 2 111329112 missense probably benign 0.00
R7169:Olfr1281 UTSW 2 111328598 missense probably damaging 1.00
R7601:Olfr1281 UTSW 2 111329220 missense probably benign 0.12
R8267:Olfr1281 UTSW 2 111328815 missense probably benign 0.22
R8447:Olfr1281 UTSW 2 111328962 missense possibly damaging 0.81
Z1177:Olfr1281 UTSW 2 111328825 missense probably benign 0.03
Posted On2015-04-16