|Institutional Source||Beutler Lab|
|Gene Name||POU domain, class 3, transcription factor 2|
|Synonyms||Otf7, Brn-2, Brn2, A230098E07Rik, 9430075J19Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5210 (G1)|
|Chromosomal Location||22482780-22488366 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 22487324 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 270 (D270N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000136147 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000178174]|
|Predicted Effect||probably damaging
AA Change: D270N
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D270N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1969|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous mutation of this gene results in lethality by 10 days of age. Mutant animals are growth retarded, have hyperkeratotic, flaky skin, and exhibit loss of the posterior pituitary and disruption of late endocrine hypothalamic development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pou3f2||
(F):5'- GCTTGCACATGTTCTTGAAGC -3'
(R):5'- TATTCGCAGCCGAGCTTCAC -3'
(F):5'- GCACATGTTCTTGAAGCTCAGCTG -3'
(R):5'- CCGAGCTTCACGGTGAAC -3'