Incidental Mutation 'IGL01943:Olfr1449'
ID180935
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 #IGL01943
Quality Score
Status
Chromosome19
Chromosomal Location12930840-12935752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12935674 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 312 (L312S)
Ref Sequence ENSEMBL: ENSMUSP00000148934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056005] [ENSMUST00000208624] [ENSMUST00000214079] [ENSMUST00000215325]
Predicted Effect probably benign
Transcript: ENSMUST00000056005
AA Change: L312S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056181
Gene: ENSMUSG00000049498
AA Change: L312S

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.5e-53 PFAM
Pfam:7tm_1 42 290 3.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208624
AA Change: L312S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214079
AA Change: L312S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215325
AA Change: L312S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,096,483 K169E probably benign Het
Ago4 A G 4: 126,517,195 V167A probably damaging Het
AI314180 A G 4: 58,849,937 F429L possibly damaging Het
Bcam C T 7: 19,765,498 R200H probably damaging Het
Cblb G A 16: 52,139,633 probably null Het
Cdc37 T C 9: 21,143,113 E72G probably benign Het
Chek2 T A 5: 110,841,227 probably benign Het
Col6a1 A T 10: 76,719,123 probably null Het
Col7a1 A G 9: 108,984,016 probably null Het
Fmo3 C T 1: 162,967,006 R165H probably benign Het
Gm2663 C T 6: 40,996,076 G199D probably damaging Het
Gm6904 A T 14: 59,251,162 V62E probably damaging Het
Gm8108 T C 14: 4,127,217 S134P probably damaging Het
Kif1b A T 4: 149,214,905 probably null Het
Krt76 T A 15: 101,889,045 D293V probably null Het
Lifr T A 15: 7,188,149 C853S probably damaging Het
Muc5b A T 7: 141,861,497 I2727F possibly damaging Het
Myo7a T C 7: 98,065,647 K1606R possibly damaging Het
Noxred1 G T 12: 87,223,181 Q259K probably benign Het
Obox3 C T 7: 15,626,852 E121K probably benign Het
Olfr125 G A 17: 37,835,053 R18H probably benign Het
Olfr1388 T A 11: 49,444,188 C112* probably null Het
Olfr348 T C 2: 36,787,083 I186T probably benign Het
Pkd2l2 T C 18: 34,417,036 F245L probably damaging Het
Pla2g6 T C 15: 79,313,116 Q86R probably null Het
Polq T A 16: 37,061,443 I1044K possibly damaging Het
Pomgnt2 G T 9: 121,982,470 T415N probably benign Het
Pprc1 T A 19: 46,064,544 probably benign Het
Prol1 T A 5: 88,327,961 M70K probably benign Het
Ptpn22 T A 3: 103,886,336 V601E probably benign Het
Slc16a3 T C 11: 120,956,883 probably null Het
Slco1b2 A G 6: 141,676,286 D489G possibly damaging Het
Sphk2 T C 7: 45,710,724 probably benign Het
Stat4 C T 1: 52,096,855 T441I possibly damaging Het
Tle1 A T 4: 72,122,402 V647E probably damaging Het
Tnrc6b C A 15: 80,927,695 Y814* probably null Het
Tubgcp3 A G 8: 12,654,301 F256S probably damaging Het
Uqcrb A T 13: 66,902,763 probably null Het
Vmn1r200 A T 13: 22,395,927 E300V possibly damaging Het
Zfp324 C T 7: 12,968,786 probably benign Het
Zxdc T C 6: 90,372,538 probably benign Het
Other mutations in Olfr1449
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Olfr1449 APN 19 12935562 missense probably damaging 0.98
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
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 On2014-05-07