Incidental Mutation 'R2418:Or6b1'
ID 249063
Institutional Source Beutler Lab
Gene Symbol Or6b1
Ensembl Gene ENSMUSG00000049168
Gene Name olfactory receptor family 6 subfamily B member 1
Synonyms Olfr449, GA_x6K02T2P3E9-4722003-4721068, MOR103-1
MMRRC Submission 040380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R2418 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42811350-42815816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42814983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 56 (H56R)
Ref Sequence ENSEMBL: ENSMUSP00000148895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050729] [ENSMUST00000204072] [ENSMUST00000204229] [ENSMUST00000214687]
AlphaFold Q8VGW8
Predicted Effect probably benign
Transcript: ENSMUST00000050729
AA Change: H56R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000059233
Gene: ENSMUSG00000049168
AA Change: H56R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 2.7e-52 PFAM
Pfam:7tm_1 41 288 2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203135
AA Change: H56R
SMART Domains Protein: ENSMUSP00000144965
Gene: ENSMUSG00000049168
AA Change: H56R

DomainStartEndE-ValueType
Pfam:7tm_4 31 193 2.1e-32 PFAM
Pfam:7tm_1 41 193 7.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204072
AA Change: H56R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000204229
AA Change: H56R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000145055
Gene: ENSMUSG00000049168
AA Change: H56R

DomainStartEndE-ValueType
Pfam:7tm_4 31 130 1.7e-20 PFAM
Pfam:7tm_1 41 130 2.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214687
AA Change: H56R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acox3 A G 5: 35,761,982 (GRCm39) N442S probably benign Het
Acp5 C A 9: 22,041,248 (GRCm39) V60L probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Btd G A 14: 31,363,093 (GRCm39) probably null Het
Cfap251 A C 5: 123,392,331 (GRCm39) probably benign Het
Cfap74 T A 4: 155,540,166 (GRCm39) probably benign Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Col4a4 G T 1: 82,510,657 (GRCm39) A205E unknown Het
Cwf19l1 T C 19: 44,119,911 (GRCm39) T77A probably benign Het
Cyp2b9 A G 7: 25,886,132 (GRCm39) T100A probably benign Het
Ddx24 A G 12: 103,383,996 (GRCm39) L485P probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dnase1l3 T A 14: 7,968,089 (GRCm38) E272V possibly damaging Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Elk3 T C 10: 93,120,689 (GRCm39) N50S probably damaging Het
Fmo3 A T 1: 162,794,527 (GRCm39) I181K probably benign Het
Golga3 T C 5: 110,349,734 (GRCm39) I655T probably damaging Het
Hspa1l A T 17: 35,196,164 (GRCm39) T68S probably benign Het
Itgax C T 7: 127,741,505 (GRCm39) R839W probably damaging Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Kmt5b C T 19: 3,857,266 (GRCm39) A318V probably benign Het
Krt78 T C 15: 101,855,069 (GRCm39) Y914C probably benign Het
Lactb2 T C 1: 13,730,563 (GRCm39) T38A possibly damaging Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Magi1 T C 6: 93,722,891 (GRCm39) D329G probably damaging Het
Map3k5 T A 10: 19,986,603 (GRCm39) V939E probably benign Het
Mcm8 C T 2: 132,666,658 (GRCm39) A233V probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Mical2 G T 7: 111,919,941 (GRCm39) probably null Het
Nudt13 A G 14: 20,361,581 (GRCm39) E219G probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Or52d3 A T 7: 104,229,141 (GRCm39) H96L probably benign Het
Osbpl7 A C 11: 96,950,004 (GRCm39) D395A probably benign Het
Osbpl9 A G 4: 108,923,415 (GRCm39) C495R probably damaging Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Pcnx4 T A 12: 72,603,037 (GRCm39) F433Y probably damaging Het
Pdp1 G A 4: 11,961,838 (GRCm39) P158S probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Ptbp1 T C 10: 79,695,511 (GRCm39) Y187H probably damaging Het
Resp18 T C 1: 75,248,955 (GRCm39) *176W probably null Het
Rps6ka2 A C 17: 7,566,738 (GRCm39) Q665H possibly damaging Het
Rtn1 T C 12: 72,351,052 (GRCm39) T386A probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Scn1a T C 2: 66,104,187 (GRCm39) N1663S probably damaging Het
Smyd1 A T 6: 71,216,537 (GRCm39) I70N probably damaging Het
Tas2r105 T C 6: 131,664,410 (GRCm39) E6G probably damaging Het
Tchh G T 3: 93,352,936 (GRCm39) R792L unknown Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem184b A G 15: 79,250,143 (GRCm39) Y211H possibly damaging Het
Top3a C A 11: 60,638,842 (GRCm39) G551V possibly damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R probably damaging Het
Other mutations in Or6b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Or6b1 APN 6 42,815,223 (GRCm39) missense possibly damaging 0.76
IGL02193:Or6b1 APN 6 42,815,753 (GRCm39) utr 3 prime probably benign
IGL02496:Or6b1 APN 6 42,815,738 (GRCm39) missense probably benign 0.00
IGL03302:Or6b1 APN 6 42,814,937 (GRCm39) nonsense probably null
IGL03333:Or6b1 APN 6 42,815,637 (GRCm39) missense possibly damaging 0.95
R1340:Or6b1 UTSW 6 42,814,943 (GRCm39) missense probably benign 0.00
R1926:Or6b1 UTSW 6 42,815,247 (GRCm39) missense probably damaging 1.00
R4837:Or6b1 UTSW 6 42,814,783 (GRCm39) splice site probably null
R5466:Or6b1 UTSW 6 42,815,027 (GRCm39) missense probably benign 0.08
R5733:Or6b1 UTSW 6 42,815,180 (GRCm39) missense probably damaging 0.97
R6411:Or6b1 UTSW 6 42,815,654 (GRCm39) missense possibly damaging 0.57
R6626:Or6b1 UTSW 6 42,815,582 (GRCm39) missense probably benign 0.14
R6912:Or6b1 UTSW 6 42,815,736 (GRCm39) missense probably benign
R7278:Or6b1 UTSW 6 42,811,330 (GRCm39) splice site probably null
R7399:Or6b1 UTSW 6 42,815,680 (GRCm39) nonsense probably null
R7703:Or6b1 UTSW 6 42,814,938 (GRCm39) missense probably damaging 1.00
R8325:Or6b1 UTSW 6 42,815,124 (GRCm39) missense probably damaging 1.00
R9182:Or6b1 UTSW 6 42,815,010 (GRCm39) missense probably benign 0.05
Z1176:Or6b1 UTSW 6 42,814,911 (GRCm39) missense probably damaging 1.00
Z1177:Or6b1 UTSW 6 42,815,310 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTTCTCTCAGAAAGGCTAGGTC -3'
(R):5'- CGATCATAGGCCATTGCAGC -3'

Sequencing Primer
(F):5'- CTCAGAAAGGCTAGGTCCTGTGTAC -3'
(R):5'- CATTGCAGCTAGGAGAACGCATTC -3'
Posted On 2014-11-12