|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 #||R2039 (G1)|
|Chromosomal Location||42248442-42340651 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 42292352 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 15 (D15E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099881 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102817]|
|Predicted Effect||possibly damaging
AA Change: D15E
PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D15E
|Meta Mutation Damage Score||0.0785|
|Coding Region Coverage||
|Validation Efficiency||96% (45/47)|
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'- AACGGGAGCATCATCCTTCTC -3'
(R):5'- CCCTTGAATGCCTGGGATTC -3'
(F):5'- GGGAGCATCATCCTTCTCCTTGG -3'
(R):5'- GAGTAGTGACCTAAGTCTGTAATCCC -3'