|Institutional Source||Beutler Lab|
|Gene Name||growth associated protein 43|
|Synonyms||B-50, Basp2, GAP-43, neuromodulin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1118 (G1)|
|Chromosomal Location||42248442-42340651 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 42291804 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 198 (E198G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099881 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102817]|
|PDB Structure||Calmodulin and Nm peptide complex [X-RAY DIFFRACTION]|
|Predicted Effect||probably benign
AA Change: E198G
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: E198G
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, abnormal optic nerve innervation, and decreased body weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gap43||
(F):5'- GGAGGCCCTTCCTAGAGCCAAATAATC -3'
(R):5'- AGACAGAAAGTGCTGCTAAAGCTACC -3'
(F):5'- AATTGTCTGATTCTCCAGTACTAGC -3'
(R):5'- GCTGCTAAAGCTACCACTGATAAC -3'