Incidental Mutation 'IGL01936:Olfr54'
ID180660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr54
Ensembl Gene ENSMUSG00000059397
Gene Nameolfactory receptor 54
SynonymsGA_x6K02T2QP88-4411197-4410256, F3, MOR126-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01936
Quality Score
Status
Chromosome11
Chromosomal Location51014236-51031578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 51027335 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 111 (N111S)
Ref Sequence ENSEMBL: ENSMUSP00000150809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]
Predicted Effect probably benign
Transcript: ENSMUST00000072152
AA Change: N111S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: N111S

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 3e-57 PFAM
Pfam:7TM_GPCR_Srsx 37 306 8.8e-6 PFAM
Pfam:7tm_1 43 291 2.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215409
AA Change: N111S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000217480
AA Change: N111S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 L926F probably damaging Het
Asgr2 A T 11: 70,098,051 probably null Het
C3ar1 T A 6: 122,851,235 T8S probably benign Het
Caskin2 T C 11: 115,804,717 I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 probably null Het
Cfap45 T G 1: 172,534,049 M231R probably damaging Het
Clcn7 A C 17: 25,155,376 N464H probably benign Het
Col20a1 T A 2: 181,009,368 probably benign Het
Col7a1 T A 9: 108,967,999 probably benign Het
Cops7a T C 6: 124,962,416 D90G probably benign Het
Ctcf T C 8: 105,670,232 V363A probably benign Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Dcaf1 T A 9: 106,859,601 F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 E1009* probably null Het
Epg5 C A 18: 77,985,101 R1286S probably damaging Het
Etv1 T C 12: 38,835,061 probably benign Het
Exosc7 T C 9: 123,135,891 probably benign Het
Fam227a T C 15: 79,612,546 D610G possibly damaging Het
Fat4 T A 3: 38,979,774 M2525K probably benign Het
Gimap5 G T 6: 48,753,065 A190S probably damaging Het
Glcci1 T A 6: 8,579,596 S79T probably damaging Het
Gm10093 T C 17: 78,492,129 V183A probably damaging Het
Gpnmb C T 6: 49,047,450 T233I probably null Het
Hyls1 T C 9: 35,562,067 I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 Y107C probably damaging Het
Il20ra T A 10: 19,755,843 V264D probably damaging Het
Jph1 A T 1: 17,097,384 V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 V813E probably damaging Het
Kntc1 T A 5: 123,811,376 F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 R241W probably damaging Het
Lgr5 T C 10: 115,452,414 N703S probably damaging Het
Map4k1 A T 7: 28,988,607 M227L possibly damaging Het
Mbnl1 T A 3: 60,613,519 M268K possibly damaging Het
Mcm2 C A 6: 88,891,726 G350C probably damaging Het
Myh2 A T 11: 67,191,773 T1390S possibly damaging Het
Npat T A 9: 53,558,226 probably benign Het
Nr2e1 T A 10: 42,567,973 D251V possibly damaging Het
Olfr1425 C T 19: 12,074,057 V192I probably benign Het
Olfr1461 C A 19: 13,165,403 P130T probably damaging Het
Plekha5 T A 6: 140,524,895 H87Q probably damaging Het
Polr3a A G 14: 24,479,188 V368A probably damaging Het
Psmb8 T A 17: 34,200,194 L154Q probably damaging Het
Rab40c A C 17: 25,884,670 C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 T183I probably benign Het
Ruvbl2 T C 7: 45,428,698 E117G probably damaging Het
Serpinb3b T A 1: 107,154,638 M299L probably benign Het
Smpdl3a A G 10: 57,802,434 H111R probably damaging Het
Sspo C A 6: 48,475,887 P2843H probably damaging Het
Stk39 T C 2: 68,314,564 T389A probably benign Het
Synrg T A 11: 84,019,705 F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 S229N probably benign Het
Thsd1 G A 8: 22,252,231 C305Y probably damaging Het
Ticrr C A 7: 79,694,549 D1387E probably benign Het
Tmem145 G T 7: 25,311,391 A383S probably damaging Het
Tmprss4 A G 9: 45,179,420 V187A probably damaging Het
Unc13c T A 9: 73,693,242 M1407L probably benign Het
Vps39 C T 2: 120,323,128 G655D probably benign Het
Wwtr1 T C 3: 57,574,820 probably benign Het
Xrn1 T C 9: 96,048,344 S1535P probably damaging Het
Other mutations in Olfr54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Olfr54 APN 11 51027589 nonsense probably null
IGL01875:Olfr54 APN 11 51027375 missense probably damaging 1.00
IGL02165:Olfr54 APN 11 51027643 missense probably benign 0.00
IGL02474:Olfr54 APN 11 51027365 missense probably damaging 1.00
IGL02706:Olfr54 APN 11 51027264 missense probably damaging 0.99
IGL02983:Olfr54 APN 11 51027380 missense probably damaging 1.00
IGL03037:Olfr54 APN 11 51027290 missense probably damaging 1.00
IGL03086:Olfr54 APN 11 51027730 missense probably damaging 1.00
R0114:Olfr54 UTSW 11 51027604 missense probably benign 0.34
R1201:Olfr54 UTSW 11 51027110 missense probably damaging 0.99
R1353:Olfr54 UTSW 11 51027006 start codon destroyed probably null 0.33
R1624:Olfr54 UTSW 11 51027125 missense probably damaging 1.00
R1961:Olfr54 UTSW 11 51027475 missense probably benign 0.00
R5318:Olfr54 UTSW 11 51027593 missense probably benign 0.01
R5335:Olfr54 UTSW 11 51027334 missense probably benign 0.00
R6409:Olfr54 UTSW 11 51027188 missense probably damaging 1.00
R7097:Olfr54 UTSW 11 51027601 missense probably benign 0.09
Posted On2014-05-07