Incidental Mutation 'IGL03034:Olfr551'
ID408593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr551
Ensembl Gene ENSMUSG00000073974
Gene Nameolfactory receptor 551
SynonymsMOR29-1, GA_x6K02T2PBJ9-5307445-5306498
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL03034
Quality Score
Status
Chromosome7
Chromosomal Location102583510-102591886 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 102587940 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 268 (H268Y)
Ref Sequence ENSEMBL: ENSMUSP00000150582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098224] [ENSMUST00000213540] [ENSMUST00000216524]
Predicted Effect probably benign
Transcript: ENSMUST00000098224
AA Change: H268Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095827
Gene: ENSMUSG00000073974
AA Change: H268Y

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 2.8e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 152 2e-9 PFAM
Pfam:7tm_1 43 293 1.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213540
AA Change: H268Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216524
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,890,082 probably benign Het
Ablim2 A G 5: 35,828,165 T269A probably benign Het
Asgr2 G T 11: 70,098,263 G178W probably damaging Het
Chtf18 A G 17: 25,727,346 probably benign Het
Cnmd C T 14: 79,641,928 A257T probably benign Het
Cox7a1 A G 7: 30,185,268 probably benign Het
Cpox C T 16: 58,675,355 T345M probably damaging Het
Crisp1 T C 17: 40,307,728 T81A probably benign Het
Dcc T A 18: 71,575,143 R501* probably null Het
Dlx6 A C 6: 6,863,807 Q143P probably benign Het
Dpp10 T A 1: 123,341,619 Y687F probably damaging Het
Eif2b1 A G 5: 124,571,831 V228A probably benign Het
Enpep T C 3: 129,298,950 D528G probably damaging Het
Fbxo6 G A 4: 148,146,122 Q228* probably null Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Kctd9 T A 14: 67,734,279 S268T probably benign Het
Kifap3 G A 1: 163,888,277 V749M probably benign Het
Mdm4 T C 1: 133,011,071 D94G probably damaging Het
Mllt10 T G 2: 18,065,036 M1R probably null Het
Mtcl1 T C 17: 66,344,198 Y1424C probably damaging Het
Mybpc2 A T 7: 44,511,897 I549N possibly damaging Het
Myocd T C 11: 65,218,685 T87A probably benign Het
Nr3c2 T G 8: 77,187,638 Y824* probably null Het
Olfr1270 A G 2: 90,149,833 Y58H probably damaging Het
Olfr1437 T C 19: 12,322,654 T58A possibly damaging Het
Olfr1447 T C 19: 12,901,757 T8A possibly damaging Het
Olfr791 A T 10: 129,526,658 I144F probably benign Het
Omg T A 11: 79,502,121 T304S possibly damaging Het
Pde3a G A 6: 141,492,400 probably benign Het
Phf20l1 A G 15: 66,597,403 K129E probably damaging Het
Phka2 G T X: 160,577,550 E858* probably null Het
Pp2d1 T C 17: 53,508,053 T548A possibly damaging Het
Prr14l G A 5: 32,827,438 A1571V possibly damaging Het
Rbms3 A G 9: 117,251,811 probably benign Het
Sparcl1 T C 5: 104,093,237 E107G probably damaging Het
Stra6l A G 4: 45,885,392 D620G probably benign Het
Traf3ip2 A T 10: 39,626,219 K121I probably damaging Het
Ttc34 T C 4: 154,861,183 S734P probably damaging Het
Zfp953 C T 13: 67,343,462 C142Y probably damaging Het
Zfp955b T A 17: 33,302,168 C204S probably benign Het
Other mutations in Olfr551
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Olfr551 APN 7 102588229 nonsense probably null
IGL03076:Olfr551 APN 7 102588472 missense probably benign
R0564:Olfr551 UTSW 7 102588531 missense probably benign
R0890:Olfr551 UTSW 7 102588201 nonsense probably null
R0909:Olfr551 UTSW 7 102588447 missense probably damaging 1.00
R1053:Olfr551 UTSW 7 102587959 nonsense probably null
R4708:Olfr551 UTSW 7 102587836 missense probably benign 0.00
R4932:Olfr551 UTSW 7 102588416 missense probably damaging 0.98
R6248:Olfr551 UTSW 7 102588030 missense probably benign 0.00
R6343:Olfr551 UTSW 7 102588546 missense probably damaging 0.98
R6389:Olfr551 UTSW 7 102588472 missense probably benign
R6455:Olfr551 UTSW 7 102588671 missense probably benign 0.00
R7305:Olfr551 UTSW 7 102587955 missense possibly damaging 0.94
Posted On2016-08-02