Incidental Mutation 'IGL01674:Olfr1449'
ID103588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1449
Ensembl Gene ENSMUSG00000049498
Gene Nameolfactory receptor 1449
SynonymsGA_x6K02T2RE5P-3264213-3265157, MOR202-34
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01674
Quality Score
Status
Chromosome19
Chromosomal Location12930840-12935752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12935562 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 275 (S275P)
Ref Sequence ENSEMBL: ENSMUSP00000148934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056005] [ENSMUST00000208624] [ENSMUST00000214079] [ENSMUST00000215325]
Predicted Effect probably damaging
Transcript: ENSMUST00000056005
AA Change: S275P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056181
Gene: ENSMUSG00000049498
AA Change: S275P

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.5e-53 PFAM
Pfam:7tm_1 42 290 3.7e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208624
AA Change: S275P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214079
AA Change: S275P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215325
AA Change: S275P

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef39 A G 4: 43,497,590 L222P probably damaging Het
Art3 T A 5: 92,403,614 Y17* probably null Het
Cadps2 A G 6: 23,355,852 L859P probably damaging Het
Celsr2 A G 3: 108,414,843 Y218H probably damaging Het
Ces5a A G 8: 93,502,219 V461A probably damaging Het
Clic4 C A 4: 135,238,893 V51L probably benign Het
Col6a3 A G 1: 90,802,514 L1083P probably damaging Het
Cul5 T C 9: 53,635,007 E328G probably damaging Het
Erap1 T C 13: 74,664,231 probably benign Het
Fn1 G A 1: 71,606,741 P1527L probably damaging Het
Gm20547 T A 17: 34,881,655 Q63L probably benign Het
Gm5089 T C 14: 122,436,163 T49A unknown Het
Ippk T C 13: 49,449,264 L362S probably damaging Het
Krt23 T C 11: 99,486,767 M138V probably benign Het
Magi3 A G 3: 104,105,721 probably benign Het
Mcc T A 18: 44,491,156 I266F probably benign Het
Mcph1 A G 8: 18,631,519 E224G probably damaging Het
Neurod4 A T 10: 130,271,018 L129H probably damaging Het
Olfr1097 T C 2: 86,890,749 Y142C probably benign Het
Olfr1230 T A 2: 89,296,670 N200I probably damaging Het
Olfr126 T A 17: 37,609,962 D263V probably damaging Het
Piezo2 A T 18: 63,027,559 I2342N probably damaging Het
Pnpt1 A G 11: 29,155,787 Q632R probably benign Het
Ppp2r2c T C 5: 36,940,226 M252T possibly damaging Het
Ppp4r2 A G 6: 100,864,683 N142D possibly damaging Het
Prex2 G T 1: 11,170,741 K1024N probably damaging Het
Rimklb T A 6: 122,459,170 I150F probably damaging Het
Slco4c1 T C 1: 96,842,493 Q282R probably damaging Het
Tmem92 T C 11: 94,778,693 E148G probably damaging Het
Traf7 T C 17: 24,510,375 probably benign Het
Ubr5 G A 15: 37,998,379 T1622M probably damaging Het
Vmn1r5 T A 6: 56,985,926 S195R probably damaging Het
Vmn2r67 C T 7: 85,136,443 V785I probably damaging Het
Ythdc2 G A 18: 44,860,404 D839N probably benign Het
Zfp184 T C 13: 21,950,225 probably benign Het
Zfp654 T C 16: 64,784,641 N525S probably benign Het
Other mutations in Olfr1449
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Olfr1449 APN 19 12935674 missense probably benign 0.24
IGL02966:Olfr1449 APN 19 12934800 missense probably benign 0.08
IGL02974:Olfr1449 APN 19 12935035 missense probably benign 0.02
IGL03220:Olfr1449 APN 19 12935494 missense probably damaging 1.00
PIT4531001:Olfr1449 UTSW 19 12935277 missense probably damaging 0.98
R0285:Olfr1449 UTSW 19 12935172 missense probably benign 0.00
R0573:Olfr1449 UTSW 19 12935260 missense possibly damaging 0.77
R0588:Olfr1449 UTSW 19 12934747 missense probably benign 0.00
R0726:Olfr1449 UTSW 19 12935605 missense probably damaging 1.00
R1006:Olfr1449 UTSW 19 12935274 missense probably damaging 1.00
R1146:Olfr1449 UTSW 19 12934965 missense possibly damaging 0.77
R1146:Olfr1449 UTSW 19 12934965 missense possibly damaging 0.77
R1386:Olfr1449 UTSW 19 12935139 missense probably benign 0.17
R1735:Olfr1449 UTSW 19 12934843 missense probably damaging 1.00
R1794:Olfr1449 UTSW 19 12934968 missense probably damaging 0.97
R2355:Olfr1449 UTSW 19 12935019 missense possibly damaging 0.91
R2511:Olfr1449 UTSW 19 12935173 missense possibly damaging 0.85
R4673:Olfr1449 UTSW 19 12935097 missense probably damaging 1.00
R4749:Olfr1449 UTSW 19 12935217 missense probably benign 0.02
R4765:Olfr1449 UTSW 19 12935076 missense possibly damaging 0.65
R5112:Olfr1449 UTSW 19 12934816 missense probably benign 0.01
R5958:Olfr1449 UTSW 19 12935047 missense probably damaging 1.00
R6115:Olfr1449 UTSW 19 12935584 missense possibly damaging 0.54
R6152:Olfr1449 UTSW 19 12935487 missense probably benign 0.13
R6417:Olfr1449 UTSW 19 12935220 missense probably damaging 1.00
R6420:Olfr1449 UTSW 19 12935220 missense probably damaging 1.00
R6695:Olfr1449 UTSW 19 12935400 missense possibly damaging 0.95
R6963:Olfr1449 UTSW 19 12935638 missense probably damaging 0.96
Posted On2014-01-21