|Institutional Source||Beutler Lab|
|Gene Name||POU domain, class 4, transcription factor 2|
|Synonyms||Pou4f-rs1, Brn-3.2, Brn3b, mBrn3-3R, Brn-3b|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0597 (G1)|
|Chromosomal Location||78433010-78436645 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 78435240 bp|
|Amino Acid Change||Serine to Proline at position 245 (S245P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034115 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034115]|
|Predicted Effect||probably benign
AA Change: S245P
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: S245P
|Meta Mutation Damage Score||0.0580|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pou4f2||
(F):5'- ACAGCGTGAGAGACTCAAACCTGC -3'
(R):5'- ACATCGTCTCCCAGAGTAAGAGCC -3'
(F):5'- GCAGATGGTGCTCTGGC -3'
(R):5'- accaccaccaccaccac -3'