Incidental Mutation 'IGL01096:Olfr944'
ID51911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr944
Ensembl Gene ENSMUSG00000096555
Gene Nameolfactory receptor 944
SynonymsGA_x6K02T2PVTD-32914568-32915503, MOR171-19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01096
Quality Score
Status
Chromosome9
Chromosomal Location39201920-39218421 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 39218116 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 253 (G253D)
Ref Sequence ENSEMBL: ENSMUSP00000150471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079650] [ENSMUST00000213908] [ENSMUST00000215306]
Predicted Effect probably damaging
Transcript: ENSMUST00000079650
AA Change: G253D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078595
Gene: ENSMUSG00000096555
AA Change: G253D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.5e-47 PFAM
Pfam:7tm_1 41 290 2.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213908
AA Change: G253D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215306
AA Change: G253D

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,039,593 M351L possibly damaging Het
Alk T C 17: 71,921,896 K725E possibly damaging Het
Dspp T A 5: 104,175,367 H125Q possibly damaging Het
Elmo2 A T 2: 165,296,987 probably benign Het
Erg A G 16: 95,390,053 probably benign Het
Fam20c A G 5: 138,809,155 E513G possibly damaging Het
Gatsl3 A C 11: 4,221,850 E309A probably damaging Het
Gm9839 G T 1: 32,520,836 T55N possibly damaging Het
Gpd2 A T 2: 57,338,867 M228L probably damaging Het
Hp A T 8: 109,575,401 M305K probably benign Het
Ifng T A 10: 118,445,269 probably benign Het
Igkv9-123 T C 6: 67,954,465 D39G possibly damaging Het
Melk T A 4: 44,347,262 F431I probably benign Het
Olfr1180 A G 2: 88,411,791 M289T probably damaging Het
Olfr1335 A G 4: 118,809,456 V136A probably damaging Het
Olfr536 A T 7: 140,504,184 S92T probably damaging Het
Olfr639 A C 7: 104,012,114 L196W probably damaging Het
Pappa T C 4: 65,189,316 Y655H probably damaging Het
Prss58 A T 6: 40,895,465 I208N probably damaging Het
Ryr2 T A 13: 11,703,544 I2720F probably damaging Het
Slc13a1 G T 6: 24,104,077 T322K probably damaging Het
Spag17 T C 3: 100,063,375 F1292L probably benign Het
Tbx5 A G 5: 119,883,026 T366A probably benign Het
Tmeff2 G A 1: 50,930,546 probably benign Het
Tmem101 C A 11: 102,154,552 probably null Het
Tpp2 C A 1: 43,960,888 P389T probably damaging Het
Tyk2 A G 9: 21,108,863 Y1000H probably damaging Het
Ush2a C A 1: 188,678,377 N2407K probably damaging Het
Vmn1r94 C T 7: 20,167,636 V248I probably damaging Het
Vmn2r12 T A 5: 109,086,259 I696F probably damaging Het
Vmn2r83 A G 10: 79,477,828 E90G probably damaging Het
Washc5 T C 15: 59,350,211 probably benign Het
Wee2 A G 6: 40,463,253 E445G probably benign Het
Zfp518b T C 5: 38,672,788 T625A probably benign Het
Other mutations in Olfr944
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Olfr944 APN 9 39218131 missense probably benign 0.30
IGL03307:Olfr944 APN 9 39218013 missense probably benign 0.03
R0110:Olfr944 UTSW 9 39217728 missense possibly damaging 0.50
R0413:Olfr944 UTSW 9 39218270 missense probably benign 0.25
R0450:Olfr944 UTSW 9 39217728 missense possibly damaging 0.50
R2108:Olfr944 UTSW 9 39218022 missense probably damaging 0.99
R2112:Olfr944 UTSW 9 39217779 missense probably benign 0.01
R4666:Olfr944 UTSW 9 39217846 missense probably damaging 0.97
R5039:Olfr944 UTSW 9 39218114 nonsense probably null
R6384:Olfr944 UTSW 9 39217978 missense probably benign 0.06
R8124:Olfr944 UTSW 9 39217671 missense probably benign
Posted On2013-06-21