Incidental Mutation 'R9394:Or2l13'
ID 710763
Institutional Source Beutler Lab
Gene Symbol Or2l13
Ensembl Gene ENSMUSG00000056822
Gene Name olfactory receptor family 2 subfamily L member 13
Synonyms MOR270-1, GA_x54KRFPKG5P-15934912-15935850, Olfr166
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R9394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 19305590-19306528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 19306421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 278 (T278P)
Ref Sequence ENSEMBL: ENSMUSP00000150568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074739] [ENSMUST00000213531] [ENSMUST00000216465]
AlphaFold Q8VGX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000074739
AA Change: T278P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074299
Gene: ENSMUSG00000056822
AA Change: T278P

DomainStartEndE-ValueType
low complexity region 12 29 N/A INTRINSIC
Pfam:7tm_4 30 306 4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 295 3.6e-7 PFAM
Pfam:7tm_1 40 289 2.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213531
AA Change: T278P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216465
AA Change: T278P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,135,225 (GRCm39) D78G Het
Adgrv1 A G 13: 81,624,767 (GRCm39) V3734A possibly damaging Het
Alpk1 T A 3: 127,466,187 (GRCm39) E1106D probably damaging Het
Apc2 A G 10: 80,145,006 (GRCm39) Y639C probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arfgef2 G A 2: 166,676,469 (GRCm39) V119I probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Cfap52 A G 11: 67,815,921 (GRCm39) *621R probably null Het
Dis3l T C 9: 64,225,017 (GRCm39) I427V probably benign Het
Dscaml1 G A 9: 45,661,354 (GRCm39) V1751I possibly damaging Het
Eif3c A T 7: 126,156,550 (GRCm39) F432L probably benign Het
Iars1 A G 13: 49,883,536 (GRCm39) N1110S probably benign Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Igfbpl1 A T 4: 45,826,792 (GRCm39) M1K probably null Het
Igkv3-1 T A 6: 70,680,953 (GRCm39) Y51N probably benign Het
Kcnq2 A T 2: 180,724,217 (GRCm39) I600K probably benign Het
Madd G A 2: 91,000,199 (GRCm39) T569M probably benign Het
Mapk7 A T 11: 61,381,858 (GRCm39) H351Q probably damaging Het
Met A C 6: 17,513,395 (GRCm39) Y415S probably damaging Het
Mmd2 A T 5: 142,555,239 (GRCm39) V151D probably damaging Het
Nacad T C 11: 6,549,390 (GRCm39) D1267G probably damaging Het
Or10g1 A G 14: 52,647,570 (GRCm39) V253A probably damaging Het
Or2m13 A G 16: 19,226,019 (GRCm39) V249A probably benign Het
Or5w12 T C 2: 87,502,094 (GRCm39) I206V probably benign Het
Osbpl8 C T 10: 111,127,375 (GRCm39) R820* probably null Het
Oxsr1 C A 9: 119,151,134 (GRCm39) E3* probably null Het
Plekhg3 A G 12: 76,623,862 (GRCm39) D1035G probably damaging Het
Prune2 C T 19: 16,981,053 (GRCm39) T70I probably damaging Het
Ranbp2 T C 10: 58,291,698 (GRCm39) L235S probably damaging Het
Rasal1 A C 5: 120,816,746 (GRCm39) S761R probably benign Het
Rigi T C 4: 40,213,831 (GRCm39) N609S probably damaging Het
Rims1 T C 1: 22,511,856 (GRCm39) S566G probably damaging Het
Rnf123 T C 9: 107,942,905 (GRCm39) H611R probably damaging Het
Rpl35rt T C 1: 156,193,793 (GRCm39) V49A probably benign Het
Scn5a T A 9: 119,324,682 (GRCm39) N1382I probably damaging Het
Sgcb T C 5: 73,801,653 (GRCm39) I71V probably benign Het
Slc6a20a C A 9: 123,507,805 (GRCm39) V23L probably damaging Het
Slc7a1 A G 5: 148,270,712 (GRCm39) W585R probably damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tom1l2 T C 11: 60,132,715 (GRCm39) T403A probably benign Het
Trpm1 G T 7: 63,918,480 (GRCm39) A1491S probably benign Het
Ttn A C 2: 76,707,058 (GRCm39) D9044E unknown Het
Ube3a A T 7: 58,921,960 (GRCm39) K111* probably null Het
Wee2 A G 6: 40,433,878 (GRCm39) H264R probably damaging Het
Zdhhc23 T A 16: 43,791,826 (GRCm39) I316F probably damaging Het
Zfc3h1 A G 10: 115,254,600 (GRCm39) E1398G probably damaging Het
Zfp612 C A 8: 110,810,993 (GRCm39) P57T probably damaging Het
Other mutations in Or2l13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Or2l13 APN 16 19,306,209 (GRCm39) missense probably benign 0.13
IGL01639:Or2l13 APN 16 19,305,914 (GRCm39) missense probably damaging 0.97
IGL02105:Or2l13 APN 16 19,306,011 (GRCm39) missense probably benign 0.15
IGL02352:Or2l13 APN 16 19,305,927 (GRCm39) missense probably damaging 1.00
IGL02359:Or2l13 APN 16 19,305,927 (GRCm39) missense probably damaging 1.00
IGL03053:Or2l13 APN 16 19,305,969 (GRCm39) missense probably benign 0.36
IGL03168:Or2l13 APN 16 19,305,969 (GRCm39) missense probably benign 0.36
R0576:Or2l13 UTSW 16 19,305,938 (GRCm39) missense probably damaging 1.00
R0920:Or2l13 UTSW 16 19,305,680 (GRCm39) missense probably benign 0.00
R1335:Or2l13 UTSW 16 19,305,803 (GRCm39) missense probably benign 0.01
R1468:Or2l13 UTSW 16 19,306,378 (GRCm39) missense probably benign 0.15
R1468:Or2l13 UTSW 16 19,306,378 (GRCm39) missense probably benign 0.15
R1490:Or2l13 UTSW 16 19,305,672 (GRCm39) missense probably benign
R2095:Or2l13 UTSW 16 19,305,681 (GRCm39) missense probably benign
R3123:Or2l13 UTSW 16 19,305,765 (GRCm39) missense probably damaging 1.00
R4893:Or2l13 UTSW 16 19,305,653 (GRCm39) missense probably benign
R5093:Or2l13 UTSW 16 19,306,227 (GRCm39) missense probably damaging 1.00
R5222:Or2l13 UTSW 16 19,305,680 (GRCm39) missense probably benign
R7149:Or2l13 UTSW 16 19,306,260 (GRCm39) missense probably damaging 1.00
R7305:Or2l13 UTSW 16 19,306,449 (GRCm39) missense probably damaging 0.98
R7484:Or2l13 UTSW 16 19,305,753 (GRCm39) missense possibly damaging 0.82
R9640:Or2l13 UTSW 16 19,305,761 (GRCm39) missense probably damaging 1.00
R9749:Or2l13 UTSW 16 19,306,113 (GRCm39) missense possibly damaging 0.95
X0020:Or2l13 UTSW 16 19,305,840 (GRCm39) missense probably benign 0.22
Z1088:Or2l13 UTSW 16 19,305,798 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- AGCACAAGCCTGTTTCTCC -3'
(R):5'- TTCCAGTGGATAGCATTTCTCTATG -3'

Sequencing Primer
(F):5'- ATCACAGCTTCCTATGGTCGGG -3'
(R):5'- TGACATTCCCCAGTAGAACTTAAAG -3'
Posted On 2022-04-18