Incidental Mutation 'R4633:Or2l13b'
ID 349386
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 041898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4633 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19348730-19349668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19349034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 212 (G212D)
Ref Sequence ENSEMBL: ENSMUSP00000149405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078554] [ENSMUST00000213480]
AlphaFold Q8VF05
Predicted Effect possibly damaging
Transcript: ENSMUST00000078554
AA Change: G212D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077632
Gene: ENSMUSG00000061361
AA Change: G212D

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 possibly damaging
Transcript: ENSMUST00000213480
AA Change: G212D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.2438 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,503 (GRCm39) L786Q probably null Het
Abcb6 A T 1: 75,154,426 (GRCm39) probably benign Het
Alg10b T C 15: 90,112,497 (GRCm39) V447A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
B4galt7 A G 13: 55,756,563 (GRCm39) H203R probably damaging Het
Cd44 T G 2: 102,683,392 (GRCm39) D214A possibly damaging Het
Ces1c T C 8: 93,845,014 (GRCm39) D275G probably benign Het
Cnot11 G T 1: 39,575,299 (GRCm39) W127L probably benign Het
Csmd1 A G 8: 16,052,620 (GRCm39) I2168T probably damaging Het
Cyp3a59 T C 5: 146,031,248 (GRCm39) F137S probably damaging Het
Dst T A 1: 34,209,515 (GRCm39) L1234Q probably damaging Het
Erbb2 T A 11: 98,323,814 (GRCm39) I676N possibly damaging Het
Erlin1 G A 19: 44,029,204 (GRCm39) R243C probably damaging Het
Fanci T C 7: 79,076,990 (GRCm39) L576P probably damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Glg1 C T 8: 111,904,276 (GRCm39) probably null Het
Gpr139 A T 7: 118,743,628 (GRCm39) I319N probably damaging Het
Hectd4 C A 5: 121,487,279 (GRCm39) H3425N probably benign Het
Itga10 A G 3: 96,555,020 (GRCm39) D118G possibly damaging Het
Klra13-ps T G 6: 130,268,136 (GRCm39) noncoding transcript Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt5 T A 15: 101,620,042 (GRCm39) D225V probably damaging Het
Krtap4-9 G T 11: 99,676,380 (GRCm39) probably benign Het
Lama1 C A 17: 68,105,579 (GRCm39) A2029E probably damaging Het
Lrp2 T A 2: 69,291,761 (GRCm39) T3473S probably benign Het
Lrrc37 A T 11: 103,509,957 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,036,424 (GRCm39) R910* probably null Het
Map1b C T 13: 99,571,450 (GRCm39) V424M probably damaging Het
Mrtfb T C 16: 13,197,737 (GRCm39) I85T possibly damaging Het
Mylk2 T C 2: 152,759,335 (GRCm39) S369P probably benign Het
Myom3 T G 4: 135,503,010 (GRCm39) F362L probably benign Het
Nomo1 A G 7: 45,699,684 (GRCm39) probably benign Het
Or10s1 T A 9: 39,985,630 (GRCm39) V13E probably damaging Het
Or1p1 T G 11: 74,180,120 (GRCm39) M216R probably benign Het
Or2w4 A G 13: 21,795,398 (GRCm39) V247A probably damaging Het
Parp4 C T 14: 56,885,048 (GRCm39) L1376F unknown Het
Phykpl C A 11: 51,484,435 (GRCm39) A208E probably damaging Het
Pla2g15 T C 8: 106,886,887 (GRCm39) F126S probably damaging Het
Polq T G 16: 36,868,904 (GRCm39) M479R probably damaging Het
Prpf4b A G 13: 35,084,425 (GRCm39) T938A probably damaging Het
Psma1 A G 7: 113,870,369 (GRCm39) M63T probably damaging Het
Rbpms2 T C 9: 65,558,918 (GRCm39) S174P probably benign Het
Rcc1 G T 4: 132,063,080 (GRCm39) S162R probably damaging Het
Rev3l T G 10: 39,722,182 (GRCm39) L2520R probably damaging Het
Rhobtb1 T A 10: 69,085,443 (GRCm39) probably null Het
Rps19 G T 7: 24,588,595 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenof C T 3: 144,302,622 (GRCm39) R116* probably null Het
Slc16a11 T C 11: 70,107,205 (GRCm39) probably null Het
Stk3 A G 15: 34,959,074 (GRCm39) V296A probably damaging Het
Taar8b C A 10: 23,968,150 (GRCm39) E15* probably null Het
Tas2r102 T A 6: 132,739,642 (GRCm39) N183K possibly damaging Het
Tet2 T A 3: 133,191,310 (GRCm39) E1041D probably benign Het
Tm9sf1 A G 14: 55,878,660 (GRCm39) V244A probably damaging Het
Trgc4 G T 13: 19,536,457 (GRCm39) V172F probably benign Het
Trim24 T A 6: 37,933,371 (GRCm39) I650K probably damaging Het
Trim59 G T 3: 68,944,747 (GRCm39) Q198K probably benign Het
Ttc28 C T 5: 111,371,867 (GRCm39) T772I probably damaging Het
Tvp23a C T 16: 10,244,909 (GRCm39) V146M probably benign Het
Usp17la A T 7: 104,509,428 (GRCm39) D11V possibly damaging Het
Usp48 A G 4: 137,362,211 (GRCm39) K32R probably damaging Het
Uspl1 A G 5: 149,151,202 (GRCm39) K801E probably damaging Het
Utp20 T C 10: 88,588,814 (GRCm39) I2452V probably benign Het
Vps18 T C 2: 119,123,757 (GRCm39) L228P probably damaging Het
Yju2b T C 8: 84,987,024 (GRCm39) T158A probably benign Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp872 G T 9: 22,108,490 (GRCm39) probably null Het
Zswim8 A G 14: 20,768,891 (GRCm39) E1110G 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
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
R5847:Or2l13b UTSW 16 19,349,076 (GRCm39) missense probably damaging 0.99
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'- TTCTGTTGGGGAGCGAAGAC -3'
(R):5'- TCGCATGAGCAAGATAATGTGTC -3'

Sequencing Primer
(F):5'- CTCCTAGGTCGAAGATAGGTATAGAC -3'
(R):5'- CCTGGATATTGGGCTCAATCAAC -3'
Posted On 2015-10-08