|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4972 (G1)|
|Chromosomal Location||55625195-56183701 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 56085246 bp|
|Amino Acid Change||Arginine to Histidine at position 313 (R313H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029374 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029374]|
|Predicted Effect||probably damaging
AA Change: R313H
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: R313H
|Meta Mutation Damage Score||0.1739|
|Coding Region Coverage||
|Validation Efficiency||93% (82/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nbea||
(F):5'- CAAGGTGTTAAAAGACATCACACAG -3'
(R):5'- TCCAAAGCCTACTATTTCTTGGG -3'
(F):5'- GTGTTAAAAGACATCACACAGAAGTC -3'
(R):5'- TTGGCCAATGTGTTAACTATGAC -3'