Incidental Mutation 'R6036:Barx2'
ID 479217
Institutional Source Beutler Lab
Gene Symbol Barx2
Ensembl Gene ENSMUSG00000032033
Gene Name BarH-like homeobox 2
Synonyms 2310006E12Rik, Barx2b
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R6036 (G1)
Quality Score 166.009
Status Not validated
Chromosome 9
Chromosomal Location 31846044-31913462 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31913008 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 28 (D28E)
Ref Sequence ENSEMBL: ENSMUSP00000112314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116615]
AlphaFold O08686
Predicted Effect probably damaging
Transcript: ENSMUST00000116615
AA Change: D28E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: D28E

low complexity region 103 113 N/A INTRINSIC
HOX 137 199 3.2e-25 SMART
low complexity region 230 246 N/A INTRINSIC
low complexity region 268 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216981
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted gene deletion exhibit short whiskers at birth, defective juvenile hair follicle remodeling, and short adult hair. Fifty percent of homozygotes are born with open eyelids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,832,858 (GRCm38) probably benign Het
Ago1 C T 4: 126,443,228 (GRCm38) R228H probably damaging Het
Alpk3 G A 7: 81,093,257 (GRCm38) V941M probably benign Het
Ano4 A G 10: 88,982,265 (GRCm38) W588R possibly damaging Het
Atp6v1a A G 16: 44,098,831 (GRCm38) Y464H probably benign Het
Cabp5 A T 7: 13,401,335 (GRCm38) M67L probably damaging Het
Col10a1 A G 10: 34,395,282 (GRCm38) T417A probably benign Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Eif4enif1 T C 11: 3,239,420 (GRCm38) S227P probably damaging Het
Erv3 G A 2: 131,856,005 (GRCm38) H145Y possibly damaging Het
Exoc5 T C 14: 49,014,322 (GRCm38) T591A possibly damaging Het
F5 A T 1: 164,184,996 (GRCm38) E493V probably damaging Het
Gm8444 G T 15: 81,843,593 (GRCm38) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm38) I221L probably benign Het
Hc T C 2: 35,039,684 (GRCm38) T249A probably benign Het
Herc2 A G 7: 56,068,053 (GRCm38) T48A probably benign Het
Hist1h2bl A T 13: 21,715,978 (GRCm38) S56T probably damaging Het
Hp A G 8: 109,576,774 (GRCm38) probably null Het
Ifna15 T G 4: 88,558,073 (GRCm38) D58A possibly damaging Het
Kcnj1 A T 9: 32,397,125 (GRCm38) M262L probably benign Het
Krt83 A C 15: 101,487,531 (GRCm38) I320S possibly damaging Het
Megf10 A G 18: 57,242,727 (GRCm38) N242D probably damaging Het
Nup155 A G 15: 8,128,411 (GRCm38) T451A probably benign Het
Olfr1277 C T 2: 111,269,612 (GRCm38) G252R probably damaging Het
Olfr1288 T C 2: 111,478,988 (GRCm38) L68P probably damaging Het
Olfr559 T A 7: 102,724,485 (GRCm38) I2F probably benign Het
Olfr701 A T 7: 106,818,460 (GRCm38) I126F probably damaging Het
Olfr930 A G 9: 38,930,920 (GRCm38) I250V probably damaging Het
Pdzd8 G A 19: 59,305,209 (GRCm38) P403S probably damaging Het
Piezo2 G A 18: 63,114,948 (GRCm38) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm38) E191G possibly damaging Het
Pou4f2 A T 8: 78,435,474 (GRCm38) S167T probably damaging Het
Scd4 G A 19: 44,344,792 (GRCm38) D319N probably damaging Het
Senp2 A T 16: 22,028,558 (GRCm38) R279* probably null Het
Sh3rf3 G A 10: 58,813,984 (GRCm38) G137D probably benign Het
Simc1 C T 13: 54,524,621 (GRCm38) P261S probably benign Het
Slc26a1 T A 5: 108,673,570 (GRCm38) D151V probably damaging Het
Snx29 A G 16: 11,738,437 (GRCm38) probably null Het
Stard9 C T 2: 120,700,075 (GRCm38) A2271V probably benign Het
Stat6 A G 10: 127,655,444 (GRCm38) N485D possibly damaging Het
Tpcn2 T C 7: 145,268,869 (GRCm38) T280A possibly damaging Het
Ttc23 A G 7: 67,711,366 (GRCm38) I378V possibly damaging Het
Ttc29 A G 8: 78,325,576 (GRCm38) D362G probably benign Het
Ttll7 A G 3: 146,940,162 (GRCm38) I592V probably benign Het
Ugt3a1 A T 15: 9,306,086 (GRCm38) H107L probably benign Het
Vmn1r70 A G 7: 10,633,903 (GRCm38) Q87R probably damaging Het
Wdfy4 G T 14: 33,146,990 (GRCm38) S360R probably damaging Het
Zfp780b A G 7: 27,963,568 (GRCm38) Y521H probably damaging Het
Other mutations in Barx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Barx2 APN 9 31,846,845 (GRCm38) missense unknown
IGL02045:Barx2 APN 9 31,858,798 (GRCm38) missense probably damaging 1.00
IGL03341:Barx2 APN 9 31,858,794 (GRCm38) missense probably damaging 1.00
R1401:Barx2 UTSW 9 31,859,031 (GRCm38) missense probably damaging 1.00
R1982:Barx2 UTSW 9 31,913,012 (GRCm38) missense probably damaging 1.00
R2436:Barx2 UTSW 9 31,913,087 (GRCm38) missense probably damaging 0.99
R4543:Barx2 UTSW 9 31,846,796 (GRCm38) missense unknown
R4804:Barx2 UTSW 9 31,846,812 (GRCm38) missense unknown
R5399:Barx2 UTSW 9 31,854,111 (GRCm38) critical splice donor site probably null
R5436:Barx2 UTSW 9 31,912,989 (GRCm38) missense probably damaging 1.00
R5700:Barx2 UTSW 9 31,858,765 (GRCm38) missense probably damaging 1.00
R6036:Barx2 UTSW 9 31,913,008 (GRCm38) missense probably damaging 1.00
R6042:Barx2 UTSW 9 31,846,903 (GRCm38) missense probably benign 0.35
R6533:Barx2 UTSW 9 31,912,979 (GRCm38) missense probably damaging 1.00
R6618:Barx2 UTSW 9 31,846,872 (GRCm38) missense probably benign 0.01
R8242:Barx2 UTSW 9 31,912,931 (GRCm38) missense probably damaging 1.00
R8307:Barx2 UTSW 9 31,859,011 (GRCm38) missense probably damaging 1.00
R8507:Barx2 UTSW 9 31,859,013 (GRCm38) missense probably damaging 1.00
R8722:Barx2 UTSW 9 31,912,984 (GRCm38) missense probably damaging 1.00
R9089:Barx2 UTSW 9 31,854,147 (GRCm38) missense probably damaging 1.00
R9470:Barx2 UTSW 9 31,858,748 (GRCm38) nonsense probably null
R9720:Barx2 UTSW 9 31,854,111 (GRCm38) critical splice donor site probably null
Z1088:Barx2 UTSW 9 31,846,866 (GRCm38) missense possibly damaging 0.59
Predicted Primers
Posted On 2017-06-26