|Institutional Source||Beutler Lab|
|Gene Name||cysteine-serine-rich nuclear protein 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0674 (G1)|
|Chromosomal Location||100479570-100495488 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 100487991 bp|
|Amino Acid Change||Leucine to Histidine at position 122 (L122H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052144 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061457]|
|Predicted Effect||probably damaging
AA Change: L122H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L122H
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||97% (124/128)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy and display normal development, hematopoiesis and T cell function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Csrnp2||
(F):5'- ACAGGCAGGCACCTTCATTTCC -3'
(R):5'- CATCCATCCTGAAGAGGCAGAAGC -3'
(F):5'- TTTCCCCAGAGCCCACG -3'
(R):5'- CTACGGAGGAAGAATGTCCGC -3'