Incidental Mutation 'R6127:Or5l13'
ID 487428
Institutional Source Beutler Lab
Gene Symbol Or5l13
Ensembl Gene ENSMUSG00000075144
Gene Name olfactory receptor family 5 subfamily L member 13
Synonyms Olfr1156, GA_x6K02T2Q125-49433499-49432537, MOR174-3
MMRRC Submission 044274-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R6127 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87779534-87780609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87779705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 291 (S291C)
Ref Sequence ENSEMBL: ENSMUSP00000149665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099842] [ENSMUST00000215903] [ENSMUST00000216191] [ENSMUST00000216726]
AlphaFold A2AVC3
Predicted Effect probably damaging
Transcript: ENSMUST00000099842
AA Change: S291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097430
Gene: ENSMUSG00000075144
AA Change: S291C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-47 PFAM
Pfam:7tm_1 41 290 1.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215903
Predicted Effect probably damaging
Transcript: ENSMUST00000216191
AA Change: S291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216726
AA Change: S291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5155 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik A G 2: 154,391,509 (GRCm39) E92G probably damaging Het
4931429L15Rik T A 9: 46,220,220 (GRCm39) D104V probably damaging Het
Actl9 T C 17: 33,652,354 (GRCm39) V138A probably benign Het
Agl T A 3: 116,551,978 (GRCm39) I1204F probably damaging Het
Akna G T 4: 63,286,356 (GRCm39) T1381N possibly damaging Het
Atm A C 9: 53,435,809 (GRCm39) L167W probably damaging Het
Atp2b2 C T 6: 113,790,838 (GRCm39) E189K probably damaging Het
Bend7 A G 2: 4,768,088 (GRCm39) D348G probably damaging Het
Cactin G A 10: 81,160,143 (GRCm39) R412H possibly damaging Het
Carmil1 T C 13: 24,220,335 (GRCm39) T726A probably benign Het
Csmd3 T A 15: 47,513,624 (GRCm39) I2829F probably damaging Het
Ddx50 A T 10: 62,457,342 (GRCm39) probably null Het
Epha5 T G 5: 84,218,953 (GRCm39) K937N probably damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fuca1 T A 4: 135,662,122 (GRCm39) I350N probably damaging Het
Hagh G T 17: 25,079,978 (GRCm39) M152I probably damaging Het
Hexd T C 11: 121,107,825 (GRCm39) V185A possibly damaging Het
Ireb2 A G 9: 54,789,652 (GRCm39) T109A probably benign Het
Kcnh2 A G 5: 24,530,001 (GRCm39) Y702H probably damaging Het
Leng1 G A 7: 3,665,866 (GRCm39) P157L probably damaging Het
Maea C T 5: 33,492,862 (GRCm39) probably benign Het
Mertk G T 2: 128,580,211 (GRCm39) V222F probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Muc13 G A 16: 33,619,317 (GRCm39) A22T unknown Het
Muc16 T A 9: 18,569,174 (GRCm39) H1115L unknown Het
Or2y1d C A 11: 49,321,633 (GRCm39) T110K probably damaging Het
Or5ae2 T A 7: 84,506,410 (GRCm39) L278M probably damaging Het
Or6c69 A G 10: 129,747,284 (GRCm39) Y288H probably damaging Het
Pak5 G A 2: 135,929,326 (GRCm39) P619L probably damaging Het
Pcdh17 A G 14: 84,770,500 (GRCm39) K993E probably damaging Het
Pcdhga3 A T 18: 37,807,757 (GRCm39) Q70L probably damaging Het
Pcdhgb5 C A 18: 37,865,932 (GRCm39) R576S probably damaging Het
Pold1 T C 7: 44,191,545 (GRCm39) Y147C probably damaging Het
Prag1 T C 8: 36,614,555 (GRCm39) L1369P unknown Het
Psg29 T A 7: 16,945,671 (GRCm39) F414I probably benign Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rp1 C A 1: 4,419,534 (GRCm39) S526I possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setd7 G A 3: 51,437,502 (GRCm39) T251I probably damaging Het
Slc25a41 T A 17: 57,341,914 (GRCm39) Y145F probably damaging Het
Stag1 T C 9: 100,833,750 (GRCm39) V1121A probably benign Het
Svip T C 7: 51,653,201 (GRCm39) T38A probably benign Het
Tacc2 A T 7: 130,227,845 (GRCm39) H1510L possibly damaging Het
Trav19 A G 14: 54,082,999 (GRCm39) T25A probably benign Het
Trip4 A T 9: 65,773,752 (GRCm39) probably null Het
Tulp1 T A 17: 28,575,124 (GRCm39) H447L probably benign Het
Vmn1r200 A T 13: 22,579,373 (GRCm39) T59S probably benign Het
Vmn2r51 A T 7: 9,839,558 (GRCm39) L10H probably damaging Het
Wee2 T C 6: 40,426,701 (GRCm39) Y157H probably damaging Het
Xrn1 T C 9: 95,851,542 (GRCm39) S187P probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Or5l13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Or5l13 APN 2 87,780,207 (GRCm39) missense probably damaging 0.99
IGL02831:Or5l13 APN 2 87,780,020 (GRCm39) splice site probably null
IGL03214:Or5l13 APN 2 87,780,415 (GRCm39) missense probably benign 0.16
R0285:Or5l13 UTSW 2 87,780,475 (GRCm39) missense probably damaging 0.98
R0926:Or5l13 UTSW 2 87,780,266 (GRCm39) missense probably damaging 1.00
R0987:Or5l13 UTSW 2 87,779,891 (GRCm39) missense probably benign 0.12
R1422:Or5l13 UTSW 2 87,780,439 (GRCm39) missense probably benign 0.00
R1958:Or5l13 UTSW 2 87,779,809 (GRCm39) missense probably damaging 1.00
R2239:Or5l13 UTSW 2 87,779,741 (GRCm39) missense probably damaging 1.00
R2380:Or5l13 UTSW 2 87,779,741 (GRCm39) missense probably damaging 1.00
R3872:Or5l13 UTSW 2 87,779,874 (GRCm39) missense probably damaging 1.00
R3873:Or5l13 UTSW 2 87,779,874 (GRCm39) missense probably damaging 1.00
R3874:Or5l13 UTSW 2 87,779,874 (GRCm39) missense probably damaging 1.00
R4526:Or5l13 UTSW 2 87,779,753 (GRCm39) missense probably benign 0.09
R5116:Or5l13 UTSW 2 87,779,873 (GRCm39) missense probably benign 0.03
R5985:Or5l13 UTSW 2 87,779,665 (GRCm39) missense probably benign 0.02
R5999:Or5l13 UTSW 2 87,780,145 (GRCm39) splice site probably null
R6259:Or5l13 UTSW 2 87,779,779 (GRCm39) missense probably benign 0.20
R6544:Or5l13 UTSW 2 87,780,335 (GRCm39) missense probably benign 0.35
R6556:Or5l13 UTSW 2 87,780,320 (GRCm39) missense probably benign 0.00
R6715:Or5l13 UTSW 2 87,780,335 (GRCm39) missense probably benign 0.35
R6951:Or5l13 UTSW 2 87,780,323 (GRCm39) missense possibly damaging 0.79
R7062:Or5l13 UTSW 2 87,780,568 (GRCm39) missense probably benign 0.01
R7142:Or5l13 UTSW 2 87,780,056 (GRCm39) missense probably benign 0.09
R7749:Or5l13 UTSW 2 87,779,822 (GRCm39) missense probably damaging 1.00
R7887:Or5l13 UTSW 2 87,780,224 (GRCm39) missense probably damaging 1.00
R8222:Or5l13 UTSW 2 87,779,788 (GRCm39) missense probably benign 0.00
R9594:Or5l13 UTSW 2 87,780,544 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTTGCACACAGAGAACATGCAG -3'
(R):5'- GCAAAGCCTTTTCTACCTGTG -3'

Sequencing Primer
(F):5'- CAGGGGTATGTGAATACTAAGACTC -3'
(R):5'- GTGCCTCCCATCTCACAG -3'
Posted On 2017-10-10