Incidental Mutation 'IGL01096:Olfr1335'
ID50889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1335
Ensembl Gene ENSMUSG00000066061
Gene Nameolfactory receptor 1335
SynonymsGA_x6K02T2QD9B-18723799-18724749, GA_x6K02T2QD9B-18726774-18727577, MOR259-12, MOR259-5, Olfr1334-ps1, Olfr1335
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01096
Quality Score
Status
Chromosome4
Chromosomal Location118808797-118809944 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118809456 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000151219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000105035] [ENSMUST00000219094]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084313
AA Change: V120A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: V120A

DomainStartEndE-ValueType
Pfam:7tm_4 50 326 2.3e-56 PFAM
Pfam:7TM_GPCR_Srsx 54 323 3.7e-8 PFAM
Pfam:7tm_1 60 309 2.1e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105035
AA Change: V120A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: V120A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 307 6.4e-8 PFAM
Pfam:7tm_1 44 293 2.9e-31 PFAM
Pfam:7tm_4 142 286 6.7e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000219094
AA Change: V136A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
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
Olfr536 A T 7: 140,504,184 S92T probably damaging Het
Olfr639 A C 7: 104,012,114 L196W probably damaging Het
Olfr944 G A 9: 39,218,116 G253D 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 Olfr1335
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Olfr1335 APN 4 118809499 missense probably benign 0.01
IGL02483:Olfr1335 APN 4 118809499 missense probably benign 0.01
R0058:Olfr1335 UTSW 4 118809480 missense probably benign
R0069:Olfr1335 UTSW 4 118809690 missense probably damaging 1.00
R0357:Olfr1335 UTSW 4 118809417 missense probably damaging 1.00
R1274:Olfr1335 UTSW 4 118809396 missense probably benign 0.01
R1432:Olfr1335 UTSW 4 118809238 missense probably benign 0.00
R2305:Olfr1335 UTSW 4 118808861 missense probably benign 0.35
R2368:Olfr1335 UTSW 4 118809822 missense probably benign
R3842:Olfr1335 UTSW 4 118809255 missense probably damaging 1.00
R3980:Olfr1335 UTSW 4 118809303 missense probably benign 0.22
R4722:Olfr1335 UTSW 4 118808949 missense probably damaging 0.99
R5074:Olfr1335 UTSW 4 118808860 missense possibly damaging 0.82
R5439:Olfr1335 UTSW 4 118809363 missense possibly damaging 0.95
R5930:Olfr1335 UTSW 4 118809378 missense probably benign 0.01
R6917:Olfr1335 UTSW 4 118809129 missense probably damaging 1.00
R7287:Olfr1335 UTSW 4 118809742 missense probably benign 0.01
R7525:Olfr1335 UTSW 4 118809494 missense probably damaging 0.99
R7717:Olfr1335 UTSW 4 118808933 missense probably damaging 0.99
R8293:Olfr1335 UTSW 4 118809742 missense probably benign 0.01
X0023:Olfr1335 UTSW 4 118809621 missense probably damaging 1.00
Posted On2013-06-21