Incidental Mutation 'IGL01120:Olfr479'
ID51589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr479
Ensembl Gene ENSMUSG00000043855
Gene Nameolfactory receptor 479
SynonymsMOR267-15, GA_x6K02T2PBJ9-10384085-10385068
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01120
Quality Score
Status
Chromosome7
Chromosomal Location108050693-108056783 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 108055567 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 195 (M195R)
Ref Sequence ENSEMBL: ENSMUSP00000149060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063151] [ENSMUST00000209805] [ENSMUST00000214599]
Predicted Effect probably damaging
Transcript: ENSMUST00000063151
AA Change: M195R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056631
Gene: ENSMUSG00000043855
AA Change: M195R

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 7.5e-45 PFAM
Pfam:7tm_1 39 301 1.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209805
AA Change: M195R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000214599
AA Change: M195R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik A T 6: 41,031,673 Y236N probably damaging Het
5830411N06Rik T C 7: 140,296,559 L648P probably benign Het
Abhd11 T A 5: 135,011,475 probably null Het
Armcx5 T C X: 135,746,363 I396T probably damaging Het
Atm T C 9: 53,461,122 probably null Het
Atp6v1c2 C T 12: 17,308,293 E88K probably damaging Het
Caskin1 A G 17: 24,505,369 T1044A possibly damaging Het
Ccdc155 G T 7: 45,184,198 S560Y probably damaging Het
Cyp3a59 T A 5: 146,102,861 S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 I240N probably damaging Het
Dnttip2 C T 3: 122,278,737 probably benign Het
Elavl2 A T 4: 91,264,072 M136K probably damaging Het
Eml5 C T 12: 98,844,019 V893I probably benign Het
Fbxw4 G T 19: 45,640,516 A2E probably benign Het
Flg2 T G 3: 93,201,168 S168A probably damaging Het
Fndc3a G A 14: 72,556,662 T857I probably benign Het
Gria1 A G 11: 57,317,669 K797E probably damaging Het
Herc1 T C 9: 66,428,880 F1569S probably benign Het
Lrrc45 T C 11: 120,720,010 V524A probably benign Het
Myo19 T C 11: 84,907,278 L708P probably damaging Het
Nup107 A G 10: 117,770,241 probably benign Het
Olfr651 T C 7: 104,553,345 V142A probably benign Het
Palm A G 10: 79,816,787 probably benign Het
Phf14 T C 6: 11,962,740 V462A probably damaging Het
Pkhd1l1 G A 15: 44,505,312 probably null Het
Pkp3 T A 7: 141,084,182 L424* probably null Het
Prss29 A G 17: 25,322,133 K184E probably benign Het
Ptcd1 C T 5: 145,152,243 probably benign Het
Pth1r T C 9: 110,727,130 H225R probably damaging Het
Rffl C T 11: 82,806,022 V332I probably damaging Het
Rsl1 T C 13: 67,177,166 probably benign Het
Scn9a T C 2: 66,526,972 K986R probably benign Het
Slc22a15 A G 3: 101,897,166 L181P probably damaging Het
Slc34a1 T A 13: 55,409,071 L241H probably damaging Het
Slc4a4 C A 5: 89,132,379 H354Q probably damaging Het
Sorcs2 T C 5: 36,021,252 E1131G probably damaging Het
Ssc4d C A 5: 135,967,963 D95Y probably damaging Het
Tcte1 A T 17: 45,539,668 D290V probably damaging Het
Thyn1 T A 9: 27,003,774 M74K probably benign Het
Tlr4 C T 4: 66,840,425 T485I probably benign Het
Trem1 A G 17: 48,237,249 T101A probably benign Het
Ttc17 T C 2: 94,371,796 E387G probably damaging Het
Vmn2r103 A T 17: 19,792,997 T127S probably benign Het
Other mutations in Olfr479
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Olfr479 APN 7 108054981 utr 5 prime probably benign
IGL01322:Olfr479 APN 7 108054981 utr 5 prime probably benign
R0396:Olfr479 UTSW 7 108055963 missense probably benign 0.11
R0539:Olfr479 UTSW 7 108055822 missense probably damaging 1.00
R2129:Olfr479 UTSW 7 108055904 missense probably benign 0.25
R2246:Olfr479 UTSW 7 108055782 missense probably benign 0.00
R2247:Olfr479 UTSW 7 108055782 missense probably benign 0.00
R3149:Olfr479 UTSW 7 108055782 missense probably benign 0.00
R3709:Olfr479 UTSW 7 108055797 missense possibly damaging 0.63
R3714:Olfr479 UTSW 7 108055435 missense probably damaging 0.99
R4326:Olfr479 UTSW 7 108055155 missense probably damaging 1.00
R4962:Olfr479 UTSW 7 108055440 missense probably benign 0.27
R5053:Olfr479 UTSW 7 108055534 missense probably benign 0.10
R5976:Olfr479 UTSW 7 108055798 missense possibly damaging 0.89
R6151:Olfr479 UTSW 7 108055899 missense probably benign
R6939:Olfr479 UTSW 7 108055105 missense possibly damaging 0.87
R7271:Olfr479 UTSW 7 108055216 missense probably damaging 1.00
Posted On2013-06-21