|Institutional Source||Beutler Lab|
|Gene Name||BarH-like homeobox 2|
|Is this an essential gene?||Possibly essential (E-score: 0.579)|
|Stock #||R6036 (G1)|
|Chromosomal Location||31846044-31913462 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31913008 bp|
|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]|
|Predicted Effect||probably damaging
AA Change: D28E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D28E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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||
|Other mutations in Barx2||
(F):5'- TCTCAGGTTGGAAAGCAGAG -3'
(R):5'- TAGTCAAAGATGCTGCTCGG -3'
(F):5'- CAGAGGCGACCGCACAC -3'
(R):5'- GTGTAGACGCAGCAGGC -3'