Incidental Mutation 'IGL01301:Olfr1451'
ID73220
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1451
Ensembl Gene ENSMUSG00000046913
Gene Nameolfactory receptor 1451
SynonymsGA_x6K02T2RE5P-3328502-3329434, MOR202-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL01301
Quality Score
Status
Chromosome19
Chromosomal Location12995014-13000417 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12999417 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 144 (I144F)
Ref Sequence ENSEMBL: ENSMUSP00000146874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063144] [ENSMUST00000207997]
Predicted Effect probably damaging
Transcript: ENSMUST00000063144
AA Change: I144F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049885
Gene: ENSMUSG00000046913
AA Change: I144F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 2.2e-5 PFAM
Pfam:7tm_1 39 289 6.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207997
AA Change: I144F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 14,943,919 probably null Het
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Fermt2 T C 14: 45,464,863 E488G probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 probably benign Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mindy1 T C 3: 95,288,390 L148P probably damaging Het
Mkrn2 C A 6: 115,611,789 Y164* probably null Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Pus7 A G 5: 23,746,424 probably null Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Sfpq T C 4: 127,026,760 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging Het
Other mutations in Olfr1451
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Olfr1451 APN 19 12999319 missense probably damaging 1.00
IGL01369:Olfr1451 APN 19 12999761 missense possibly damaging 0.78
IGL02098:Olfr1451 APN 19 12999573 missense probably benign 0.00
IGL02106:Olfr1451 APN 19 12999565 missense possibly damaging 0.80
IGL02369:Olfr1451 APN 19 12999708 missense probably damaging 1.00
ANU18:Olfr1451 UTSW 19 12999417 missense probably damaging 0.99
R0316:Olfr1451 UTSW 19 12999402 missense probably damaging 1.00
R0926:Olfr1451 UTSW 19 12999190 missense probably damaging 1.00
R0988:Olfr1451 UTSW 19 12999787 missense probably benign 0.39
R1268:Olfr1451 UTSW 19 12999261 missense possibly damaging 0.80
R1509:Olfr1451 UTSW 19 12999451 missense possibly damaging 0.54
R1991:Olfr1451 UTSW 19 12999502 missense possibly damaging 0.60
R2103:Olfr1451 UTSW 19 12999502 missense possibly damaging 0.60
R2132:Olfr1451 UTSW 19 12999038 missense probably benign 0.21
R2206:Olfr1451 UTSW 19 12999040 missense probably benign 0.06
R3687:Olfr1451 UTSW 19 12999102 missense probably damaging 1.00
R4077:Olfr1451 UTSW 19 12999871 missense probably damaging 1.00
R4803:Olfr1451 UTSW 19 12999169 missense probably damaging 1.00
R4948:Olfr1451 UTSW 19 12999831 missense probably benign 0.06
R4999:Olfr1451 UTSW 19 12999219 missense probably benign 0.03
R6274:Olfr1451 UTSW 19 12999870 missense probably damaging 0.97
R6843:Olfr1451 UTSW 19 12998998 missense probably benign 0.09
R6928:Olfr1451 UTSW 19 12999838 missense probably damaging 0.99
R6941:Olfr1451 UTSW 19 12999497 missense possibly damaging 0.86
R7485:Olfr1451 UTSW 19 12999558 missense probably benign 0.03
R7611:Olfr1451 UTSW 19 12999067 missense possibly damaging 0.93
R7823:Olfr1451 UTSW 19 12999417 missense probably damaging 0.99
Posted On2013-10-07