Incidental Mutation 'IGL02947:Olfr446'
ID364787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr446
Ensembl Gene ENSMUSG00000073111
Gene Nameolfactory receptor 446
SynonymsGA_x6K02T2P3E9-4632269-4631343, MOR261-12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL02947
Quality Score
Status
Chromosome6
Chromosomal Location42921377-42931141 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42927896 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 222 (I222V)
Ref Sequence ENSEMBL: ENSMUSP00000150255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101461] [ENSMUST00000215369] [ENSMUST00000215686] [ENSMUST00000216199]
Predicted Effect probably benign
Transcript: ENSMUST00000101461
AA Change: I222V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: I222V

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.7e-62 PFAM
Pfam:7TM_GPCR_Srsx 32 282 1.7e-5 PFAM
Pfam:7tm_1 38 287 3.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215369
AA Change: I222V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215686
AA Change: I222V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216199
AA Change: I222V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T A 13: 68,611,193 F95L probably benign Het
Aasdh A G 5: 76,902,110 V13A probably benign Het
Atp8b5 T A 4: 43,305,774 I106K possibly damaging Het
Cdh15 T C 8: 122,865,372 S633P probably benign Het
Celsr3 A G 9: 108,845,935 T228A probably benign Het
Chrng A G 1: 87,209,884 probably null Het
Coprs T C 8: 13,885,782 E79G probably damaging Het
Cpb2 A C 14: 75,283,318 Y391S probably damaging Het
Cyp2j8 A T 4: 96,470,578 I368N probably damaging Het
Ddah1 T C 3: 145,759,087 F76L probably benign Het
Eif2ak4 A G 2: 118,431,033 T573A probably benign Het
Exoc6b T A 6: 84,858,429 M375L probably benign Het
Fasn T C 11: 120,815,676 E994G probably damaging Het
Fem1a T A 17: 56,258,640 C578S probably benign Het
Garnl3 A G 2: 33,046,594 S188P probably damaging Het
Gpn3 T C 5: 122,378,488 V60A possibly damaging Het
Hnrnpr A G 4: 136,316,379 D59G probably damaging Het
Hydin A T 8: 110,418,462 E815V probably damaging Het
Itga9 C T 9: 118,658,533 T228M probably damaging Het
Kpna7 T C 5: 144,994,074 I320M probably damaging Het
Lnpep T C 17: 17,570,972 T437A probably damaging Het
Ltf C T 9: 111,038,947 T48I probably benign Het
Masp1 T G 16: 23,494,726 D153A probably damaging Het
Mcpt9 T A 14: 56,026,916 R241* probably null Het
Msantd4 T A 9: 4,384,787 S171T probably damaging Het
Nos1 G A 5: 117,943,317 V1229M probably damaging Het
Npc1l1 A G 11: 6,229,246 S55P probably benign Het
Oc90 T C 15: 65,888,134 K212R probably benign Het
Olfr1095 C T 2: 86,850,786 R304K probably benign Het
Olfr771 C A 10: 129,160,570 C138F probably damaging Het
Prr12 T A 7: 45,048,556 Q645L unknown Het
Psmd9 A G 5: 123,246,215 I145V probably benign Het
Rbks T C 5: 31,660,063 I121V probably benign Het
Rnase2b A T 14: 51,162,807 Y115F probably damaging Het
Sarnp A G 10: 128,839,854 E78G probably benign Het
Sltm A G 9: 70,591,664 S1007G probably benign Het
Spata31d1c T A 13: 65,034,945 Y100* probably null Het
Srrm2 T C 17: 23,810,746 S222P probably benign Het
Sult3a1 G A 10: 33,864,050 R35Q possibly damaging Het
Tfap4 T C 16: 4,551,360 D132G probably damaging Het
Tmem53 C T 4: 117,268,088 Q111* probably null Het
Togaram1 T A 12: 65,021,500 V1709D probably damaging Het
Trpm3 A T 19: 22,901,119 D628V probably damaging Het
Ttn T A 2: 76,714,494 K31009* probably null Het
Vldlr A G 19: 27,239,720 I58V probably benign Het
Vmn1r4 T C 6: 56,957,246 F245S probably benign Het
Vrtn T A 12: 84,648,484 S3T probably damaging Het
Vwa7 A G 17: 35,023,500 probably null Het
Wrnip1 T A 13: 32,822,070 Y632N probably damaging Het
Other mutations in Olfr446
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03164:Olfr446 APN 6 42928130 nonsense probably null
PIT4519001:Olfr446 UTSW 6 42927644 missense probably damaging 1.00
R1760:Olfr446 UTSW 6 42927497 missense possibly damaging 0.90
R1883:Olfr446 UTSW 6 42927830 missense probably damaging 0.99
R1884:Olfr446 UTSW 6 42927830 missense probably damaging 0.99
R2180:Olfr446 UTSW 6 42927525 missense probably benign 0.14
R3001:Olfr446 UTSW 6 42927954 missense probably damaging 1.00
R3002:Olfr446 UTSW 6 42927954 missense probably damaging 1.00
R4435:Olfr446 UTSW 6 42928089 missense probably damaging 1.00
R4544:Olfr446 UTSW 6 42927414 missense probably damaging 1.00
R4546:Olfr446 UTSW 6 42927414 missense probably damaging 1.00
R5009:Olfr446 UTSW 6 42927433 missense probably damaging 1.00
R5236:Olfr446 UTSW 6 42927781 missense probably benign 0.04
R5290:Olfr446 UTSW 6 42928038 missense probably damaging 0.98
R5297:Olfr446 UTSW 6 42927437 missense probably benign 0.17
R7371:Olfr446 UTSW 6 42927535 nonsense probably null
X0065:Olfr446 UTSW 6 42928056 missense probably damaging 0.97
Posted On2015-12-18