Incidental Mutation 'R6372:Or5al5'
ID 513556
Institutional Source Beutler Lab
Gene Symbol Or5al5
Ensembl Gene ENSMUSG00000075204
Gene Name olfactory receptor family 5 subfamily AL member 5
Synonyms MOR185-5, Olfr1517, MOR185-5, MOR185-9P, Olfr1039, GA_x6K02T2Q125-47600809-47599850, MOR185-5
MMRRC Submission 044522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6372 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85961046-85962005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85961198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 270 (T270A)
Ref Sequence ENSEMBL: ENSMUSP00000149830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099910] [ENSMUST00000214364] [ENSMUST00000216566] [ENSMUST00000216665]
AlphaFold A2ARY0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099910
AA Change: T270A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097494
Gene: ENSMUSG00000075204
AA Change: T270A

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1e-50 PFAM
Pfam:7tm_1 41 290 2.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214364
AA Change: T270A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216566
AA Change: T270A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216665
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 87,066,088 (GRCm39) H136Q possibly damaging Het
Aim2 T A 1: 173,282,802 (GRCm39) probably null Het
Atp13a3 T C 16: 30,162,273 (GRCm39) H696R probably damaging Het
Atrnl1 T C 19: 57,638,764 (GRCm39) S301P probably benign Het
Atxn1 T A 13: 45,710,932 (GRCm39) I667F probably damaging Het
Cacnb4 T A 2: 52,324,679 (GRCm39) Y415F probably benign Het
Ccdc183 T C 2: 25,506,176 (GRCm39) D140G probably benign Het
Clec2g A C 6: 128,925,726 (GRCm39) H45P probably benign Het
Col5a3 A G 9: 20,696,882 (GRCm39) V917A probably damaging Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Dnajc28 T C 16: 91,414,176 (GRCm39) I23V probably benign Het
Elovl6 T C 3: 129,426,751 (GRCm39) F139S probably damaging Het
Fcgbp A G 7: 27,806,433 (GRCm39) T2134A probably damaging Het
Fcrl5 C T 3: 87,351,501 (GRCm39) Q250* probably null Het
Gimap1 T A 6: 48,720,290 (GRCm39) *301K probably null Het
Gm17472 T C 6: 42,957,823 (GRCm39) S31P possibly damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gnl1 T C 17: 36,293,427 (GRCm39) F204S probably damaging Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hk1 T C 10: 62,127,757 (GRCm39) H370R probably benign Het
Ighv7-2 G A 12: 113,876,075 (GRCm39) T10I probably benign Het
Itga9 A G 9: 118,726,389 (GRCm39) K448E probably damaging Het
Lama4 C A 10: 38,943,948 (GRCm39) N750K probably benign Het
Megf11 T C 9: 64,613,907 (GRCm39) Y1077H probably damaging Het
Mrpl45 T C 11: 97,212,388 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,457,812 (GRCm39) D2185G possibly damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nlrc5 T C 8: 95,206,378 (GRCm39) L743P probably damaging Het
Nol4 A G 18: 23,171,613 (GRCm39) probably null Het
Nol9 T C 4: 152,130,452 (GRCm39) S329P probably damaging Het
Ntrk1 T C 3: 87,693,355 (GRCm39) D259G probably benign Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or4k40 T A 2: 111,251,147 (GRCm39) I50F probably benign Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Or8h8 T A 2: 86,753,499 (GRCm39) I126F probably damaging Het
Pbx4 C A 8: 70,324,694 (GRCm39) A365E possibly damaging Het
Pcdhb19 T A 18: 37,630,419 (GRCm39) N71K probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Recql A G 6: 142,322,566 (GRCm39) V112A probably damaging Het
Rhbdl3 C A 11: 80,221,482 (GRCm39) L207I probably damaging Het
Rtkn A G 6: 83,128,882 (GRCm39) D459G possibly damaging Het
Rubcnl C A 14: 75,285,009 (GRCm39) S509R probably damaging Het
Slc26a8 T C 17: 28,863,777 (GRCm39) T661A probably benign Het
Sspo A T 6: 48,449,475 (GRCm39) D2472V probably damaging Het
Taf4b T G 18: 14,937,790 (GRCm39) V258G probably damaging Het
Tbc1d19 T G 5: 54,014,252 (GRCm39) S293R possibly damaging Het
Tecpr1 C T 5: 144,153,776 (GRCm39) R159Q probably damaging Het
Tlr3 A G 8: 45,850,048 (GRCm39) S874P probably damaging Het
Tnk2 T A 16: 32,498,603 (GRCm39) W639R probably damaging Het
Tpmt C T 13: 47,189,370 (GRCm39) probably null Het
Trappc9 T A 15: 72,461,923 (GRCm39) D935V possibly damaging Het
Trav13d-4 T C 14: 53,995,118 (GRCm39) V4A probably damaging Het
Ubn1 C T 16: 4,899,502 (GRCm39) T1082I possibly damaging Het
Usf2 G A 7: 30,654,738 (GRCm39) Q35* probably null Het
Vmn1r57 T C 7: 5,223,826 (GRCm39) M117T possibly damaging Het
Vmn2r65 G T 7: 84,589,861 (GRCm39) A685E probably damaging Het
Vxn G A 1: 9,683,546 (GRCm39) E45K probably damaging Het
Zeb2 T C 2: 44,892,551 (GRCm39) E166G probably damaging Het
Zfp808 T C 13: 62,320,291 (GRCm39) S507P probably damaging Het
Other mutations in Or5al5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Or5al5 APN 2 85,962,012 (GRCm39) utr 5 prime probably benign
IGL01981:Or5al5 APN 2 85,961,174 (GRCm39) missense probably benign 0.44
IGL02958:Or5al5 APN 2 85,961,351 (GRCm39) missense probably benign 0.00
R0645:Or5al5 UTSW 2 85,961,378 (GRCm39) missense probably damaging 1.00
R1052:Or5al5 UTSW 2 85,961,915 (GRCm39) missense probably benign 0.13
R1613:Or5al5 UTSW 2 85,961,407 (GRCm39) missense probably damaging 1.00
R2132:Or5al5 UTSW 2 85,961,605 (GRCm39) missense possibly damaging 0.52
R3956:Or5al5 UTSW 2 85,961,363 (GRCm39) missense probably benign
R7338:Or5al5 UTSW 2 85,961,726 (GRCm39) missense probably damaging 0.99
R7514:Or5al5 UTSW 2 85,961,972 (GRCm39) missense probably damaging 1.00
R7535:Or5al5 UTSW 2 85,961,608 (GRCm39) missense probably benign 0.00
R7537:Or5al5 UTSW 2 85,961,608 (GRCm39) missense probably benign 0.00
R8052:Or5al5 UTSW 2 85,961,721 (GRCm39) nonsense probably null
R9736:Or5al5 UTSW 2 85,961,640 (GRCm39) missense probably damaging 1.00
RF005:Or5al5 UTSW 2 85,961,414 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCTGGAAACCAAGCACTC -3'
(R):5'- CATTGCTGGCTTCAACACTC -3'

Sequencing Primer
(F):5'- ACCAAGCACTCAGTATTTTCACGTG -3'
(R):5'- AACACTCTTTGCTCTCTGGTGATTG -3'
Posted On 2018-04-27