Incidental Mutation 'R5105:Or6b13'
ID 401988
Institutional Source Beutler Lab
Gene Symbol Or6b13
Ensembl Gene ENSMUSG00000050366
Gene Name olfactory receptor family 6 subfamily B member 13
Synonyms GA_x6K02T2PBJ9-42354580-42353624, MOR103-14P, Olfr524
MMRRC Submission 042693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5105 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139781299-139785192 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139782462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 74 (Y74H)
Ref Sequence ENSEMBL: ENSMUSP00000150970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051943] [ENSMUST00000215815]
AlphaFold Q7TRU0
Predicted Effect probably damaging
Transcript: ENSMUST00000051943
AA Change: Y74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: Y74H

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 7.5e-56 PFAM
Pfam:7tm_1 42 292 6.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215815
AA Change: Y74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2383 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (52/54)
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
Btbd8 T G 5: 107,658,337 (GRCm39) S1124A possibly damaging Het
Camsap1 A G 2: 25,830,941 (GRCm39) S445P probably damaging Het
Ccdc92 G A 5: 124,912,858 (GRCm39) P224S probably damaging Het
Cep135 T C 5: 76,741,939 (GRCm39) V125A probably benign Het
Cep192 T A 18: 67,999,612 (GRCm39) C2159S probably benign Het
Col1a1 G T 11: 94,833,211 (GRCm39) R404L unknown Het
Col6a3 A T 1: 90,725,862 (GRCm39) M1382K possibly damaging Het
Cyp4a12b T C 4: 115,290,958 (GRCm39) S329P probably damaging Het
Dclk1 T G 3: 55,163,360 (GRCm39) S151A probably benign Het
Ddhd1 A T 14: 45,894,864 (GRCm39) V202E probably benign Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dync1h1 T A 12: 110,584,366 (GRCm39) F590I probably damaging Het
Eif4b T C 15: 101,992,631 (GRCm39) Y63H probably benign Het
Fscb T C 12: 64,520,110 (GRCm39) E452G possibly damaging Het
Gpx3 A T 11: 54,797,980 (GRCm39) T39S possibly damaging Het
Grin2b T A 6: 135,709,439 (GRCm39) Y1369F probably benign Het
Kank4 A T 4: 98,667,396 (GRCm39) N350K probably benign Het
Kdm5d A G Y: 941,752 (GRCm39) K1318E probably benign Het
Large1 A T 8: 73,578,872 (GRCm39) Y444* probably null Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lrrc47 A G 4: 154,096,673 (GRCm39) Q156R probably damaging Het
Lrriq4 T C 3: 30,704,632 (GRCm39) L220P probably damaging Het
Matn2 A G 15: 34,355,814 (GRCm39) D273G possibly damaging Het
Myo18b T A 5: 112,988,644 (GRCm39) I981F probably damaging Het
Or1q1 G A 2: 36,887,469 (GRCm39) probably null Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5aq1 A G 2: 86,966,554 (GRCm39) I37T probably benign Het
Or8d6 T C 9: 39,853,694 (GRCm39) V46A probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Ppp3cb A G 14: 20,559,490 (GRCm39) V422A possibly damaging Het
Rlf G A 4: 121,007,564 (GRCm39) T472I probably damaging Het
Scaf11 T C 15: 96,318,313 (GRCm39) E417G probably damaging Het
Shisa2 A T 14: 59,867,263 (GRCm39) T172S possibly damaging Het
Siglec1 T A 2: 130,922,320 (GRCm39) Q585L possibly damaging Het
Sorcs1 A T 19: 50,213,579 (GRCm39) M716K possibly damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stxbp5l C A 16: 36,962,734 (GRCm39) V774F probably benign Het
Tcaf3 A G 6: 42,568,259 (GRCm39) F699S probably damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Trpc6 T A 9: 8,649,471 (GRCm39) N560K probably benign Het
Trpv4 T A 5: 114,764,981 (GRCm39) I678F probably damaging Het
Ttc3 A T 16: 94,267,793 (GRCm39) H1935L possibly damaging Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Wdfy3 A G 5: 102,003,415 (GRCm39) I2900T probably damaging Het
Zfp184 A G 13: 22,143,799 (GRCm39) T502A possibly damaging Het
Zmym6 A G 4: 127,017,551 (GRCm39) I1019V probably benign Het
Other mutations in Or6b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01991:Or6b13 APN 7 139,782,345 (GRCm39) missense probably damaging 1.00
IGL01999:Or6b13 APN 7 139,782,345 (GRCm39) missense probably damaging 1.00
IGL02005:Or6b13 APN 7 139,782,345 (GRCm39) missense probably damaging 1.00
IGL02030:Or6b13 APN 7 139,782,545 (GRCm39) missense probably damaging 0.97
IGL02474:Or6b13 APN 7 139,782,500 (GRCm39) missense probably damaging 1.00
H8441:Or6b13 UTSW 7 139,781,871 (GRCm39) missense possibly damaging 0.81
R0426:Or6b13 UTSW 7 139,782,029 (GRCm39) missense possibly damaging 0.81
R0704:Or6b13 UTSW 7 139,782,548 (GRCm39) missense probably benign 0.00
R0891:Or6b13 UTSW 7 139,782,372 (GRCm39) missense probably damaging 1.00
R1624:Or6b13 UTSW 7 139,781,864 (GRCm39) missense probably damaging 0.96
R1865:Or6b13 UTSW 7 139,782,285 (GRCm39) missense probably damaging 1.00
R1938:Or6b13 UTSW 7 139,782,144 (GRCm39) missense probably benign 0.30
R2105:Or6b13 UTSW 7 139,782,656 (GRCm39) missense probably benign 0.02
R3009:Or6b13 UTSW 7 139,782,669 (GRCm39) missense probably benign
R3546:Or6b13 UTSW 7 139,782,014 (GRCm39) missense probably damaging 1.00
R4849:Or6b13 UTSW 7 139,782,340 (GRCm39) nonsense probably null
R5009:Or6b13 UTSW 7 139,781,751 (GRCm39) missense probably benign
R5413:Or6b13 UTSW 7 139,782,635 (GRCm39) missense possibly damaging 0.94
R5422:Or6b13 UTSW 7 139,782,305 (GRCm39) missense probably damaging 1.00
R7314:Or6b13 UTSW 7 139,782,326 (GRCm39) missense probably damaging 0.99
R7338:Or6b13 UTSW 7 139,782,446 (GRCm39) missense probably benign 0.01
R7921:Or6b13 UTSW 7 139,782,212 (GRCm39) missense probably damaging 1.00
R8438:Or6b13 UTSW 7 139,782,170 (GRCm39) missense probably damaging 1.00
R9261:Or6b13 UTSW 7 139,782,563 (GRCm39) missense probably benign 0.29
V1662:Or6b13 UTSW 7 139,781,871 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TCATGATGACTGGGTAGCGAAG -3'
(R):5'- GGAACAGCTCAGATGTGACTG -3'

Sequencing Primer
(F):5'- AAGAAGTACAGTTGGGCC -3'
(R):5'- TCAGATGTGACTGAGTTCATCC -3'
Posted On 2016-07-22