|Institutional Source||Beutler Lab|
|Gene Name||homeobox B2|
|Is this an essential gene?||Possibly essential (E-score: 0.711)|
|Stock #||R7673 (G1)|
|Chromosomal Location||96350525-96354012 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 96353457 bp|
|Amino Acid Change||Aspartic acid to Valine at position 298 (D298V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098092 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000100523]|
|Predicted Effect||possibly damaging
AA Change: D298V
PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D298V
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxb2||
(F):5'- GGTCAAAGTCTGGTTCCAGAAC -3'
(R):5'- GAAACTGCAAGTCGATGGCAC -3'
(F):5'- GTTCCAGAACCGACGCATG -3'
(R):5'- CACAGAGCGTGCTGGTG -3'