|Institutional Source||Beutler Lab|
|Gene Name||NLR family, apoptosis inhibitory protein 2|
|Synonyms||Birc1b, Naip2, Naip-rs6|
|Essential gene?||Probably non essential (E-score: 0.066)|
|Stock #||R1576 (G1)|
|Chromosomal Location||100144063-100202092 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||G to A at 100155029 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000125852 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067975] [ENSMUST00000117913] [ENSMUST00000167986]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Naip2||
(F):5'- TGTGAACTGGAGATCAAGCACCATC -3'
(R):5'- TGTGAGTCTAGAGTCCAGCACAGG -3'
(F):5'- CATCCCTTACCTAGTTTGGAGAG -3'
(R):5'- ACAGGGCTTGCCCTAGAG -3'