Incidental Mutation 'R2108:Or5p54'
ID 232258
Institutional Source Beutler Lab
Gene Symbol Or5p54
Ensembl Gene ENSMUSG00000094197
Gene Name olfactory receptor family 5 subfamily P member 54
Synonyms GA_x6K02T2PBJ9-10283869-10284801, MOR204-20, Olfr474
MMRRC Submission 040112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107553850-107554782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107554709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 287 (H287L)
Ref Sequence ENSEMBL: ENSMUSP00000055931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054434]
AlphaFold Q8VFC9
Predicted Effect probably benign
Transcript: ENSMUST00000054434
AA Change: H287L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: H287L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.1e-39 PFAM
Pfam:7tm_1 41 290 9.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207265
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl2 A G 2: 26,985,570 (GRCm39) M485V probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
C3 A T 17: 57,530,974 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hsd3b6 A T 3: 98,713,503 (GRCm39) Y265* probably null Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Nup153 A G 13: 46,846,986 (GRCm39) probably null Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Prkcq A T 2: 11,237,380 (GRCm39) Y53F probably damaging Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R probably benign Het
Other mutations in Or5p54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Or5p54 APN 7 107,554,580 (GRCm39) missense possibly damaging 0.48
IGL01794:Or5p54 APN 7 107,554,502 (GRCm39) missense probably damaging 1.00
IGL02007:Or5p54 APN 7 107,553,953 (GRCm39) missense probably damaging 1.00
IGL02213:Or5p54 APN 7 107,554,511 (GRCm39) missense probably damaging 1.00
IGL02529:Or5p54 APN 7 107,554,423 (GRCm39) missense possibly damaging 0.86
IGL02814:Or5p54 APN 7 107,553,977 (GRCm39) missense probably benign 0.00
IGL03242:Or5p54 APN 7 107,554,688 (GRCm39) missense possibly damaging 0.90
R0331:Or5p54 UTSW 7 107,554,077 (GRCm39) missense probably benign
R0409:Or5p54 UTSW 7 107,554,433 (GRCm39) missense probably benign 0.01
R0433:Or5p54 UTSW 7 107,554,469 (GRCm39) missense probably damaging 0.98
R1227:Or5p54 UTSW 7 107,554,259 (GRCm39) missense probably damaging 1.00
R2256:Or5p54 UTSW 7 107,554,244 (GRCm39) missense probably damaging 1.00
R5229:Or5p54 UTSW 7 107,554,376 (GRCm39) missense probably damaging 1.00
R5454:Or5p54 UTSW 7 107,554,096 (GRCm39) missense probably benign 0.09
R5834:Or5p54 UTSW 7 107,554,113 (GRCm39) missense probably benign 0.01
R6002:Or5p54 UTSW 7 107,554,376 (GRCm39) missense probably damaging 1.00
R6046:Or5p54 UTSW 7 107,554,001 (GRCm39) missense probably benign
R8214:Or5p54 UTSW 7 107,554,174 (GRCm39) missense probably benign 0.00
R9210:Or5p54 UTSW 7 107,554,017 (GRCm39) missense probably benign 0.08
R9212:Or5p54 UTSW 7 107,554,017 (GRCm39) missense probably benign 0.08
R9385:Or5p54 UTSW 7 107,554,780 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CACTGATGGATGCCACAAGG -3'
(R):5'- CTTCATGTCTTCGGGAAGTCC -3'

Sequencing Primer
(F):5'- ACAAGGCCTTCTCCACCTG -3'
(R):5'- CTGACAATTGCCTTCCTCA -3'
Posted On 2014-09-18