Incidental Mutation 'R5847:Or2l13b'
ID 453697
Institutional Source Beutler Lab
Gene Symbol Or2l13b
Ensembl Gene ENSMUSG00000061361
Gene Name olfactory receptor family 2 subfamily L member 13B
Synonyms GA_x54KRFPKG5P-15979009-15978071, Olfr168, MOR271-1
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19348730-19349668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19349076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 198 (V198E)
Ref Sequence ENSEMBL: ENSMUSP00000149405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078554] [ENSMUST00000213480]
AlphaFold Q8VF05
Predicted Effect probably damaging
Transcript: ENSMUST00000078554
AA Change: V198E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077632
Gene: ENSMUSG00000061361
AA Change: V198E

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 5e-50 PFAM
Pfam:7TM_GPCR_Srsx 34 295 3.7e-8 PFAM
Pfam:7tm_1 40 289 3.6e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213480
AA Change: V198E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably damaging Het
Other mutations in Or2l13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Or2l13b APN 16 19,348,845 (GRCm39) missense probably benign 0.13
IGL02139:Or2l13b APN 16 19,349,640 (GRCm39) missense probably benign 0.05
IGL02347:Or2l13b APN 16 19,349,529 (GRCm39) missense probably damaging 1.00
IGL03402:Or2l13b APN 16 19,349,667 (GRCm39) start codon destroyed probably null 0.99
R0542:Or2l13b UTSW 16 19,348,732 (GRCm39) makesense probably null
R1496:Or2l13b UTSW 16 19,349,133 (GRCm39) missense possibly damaging 0.94
R1707:Or2l13b UTSW 16 19,348,927 (GRCm39) missense probably benign 0.18
R2006:Or2l13b UTSW 16 19,349,455 (GRCm39) missense probably benign 0.02
R2220:Or2l13b UTSW 16 19,348,895 (GRCm39) nonsense probably null
R3734:Or2l13b UTSW 16 19,349,398 (GRCm39) missense probably damaging 0.99
R4134:Or2l13b UTSW 16 19,349,452 (GRCm39) missense possibly damaging 0.90
R4135:Or2l13b UTSW 16 19,349,452 (GRCm39) missense possibly damaging 0.90
R4538:Or2l13b UTSW 16 19,349,381 (GRCm39) nonsense probably null
R4631:Or2l13b UTSW 16 19,348,891 (GRCm39) nonsense probably null
R4633:Or2l13b UTSW 16 19,349,034 (GRCm39) missense possibly damaging 0.94
R4872:Or2l13b UTSW 16 19,349,383 (GRCm39) missense probably damaging 0.99
R4910:Or2l13b UTSW 16 19,348,768 (GRCm39) missense probably benign 0.03
R4945:Or2l13b UTSW 16 19,349,307 (GRCm39) missense probably benign 0.03
R5345:Or2l13b UTSW 16 19,349,527 (GRCm39) missense probably damaging 1.00
R5899:Or2l13b UTSW 16 19,349,551 (GRCm39) missense probably damaging 1.00
R7074:Or2l13b UTSW 16 19,348,855 (GRCm39) missense possibly damaging 0.90
R7439:Or2l13b UTSW 16 19,349,650 (GRCm39) missense probably benign 0.03
R7723:Or2l13b UTSW 16 19,349,358 (GRCm39) nonsense probably null
R7860:Or2l13b UTSW 16 19,349,167 (GRCm39) missense probably damaging 1.00
R8871:Or2l13b UTSW 16 19,349,536 (GRCm39) missense
R9515:Or2l13b UTSW 16 19,349,026 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGACTCCTAGGTCGAAGATAGG -3'
(R):5'- CTATCCCATTCGCATGAGCAAG -3'

Sequencing Primer
(F):5'- CTCCTAGGTCGAAGATAGGTATAGAC -3'
(R):5'- CCATTCGCATGAGCAAGATAATGTG -3'
Posted On 2017-02-10