|Institutional Source||Beutler Lab|
|Gene Name||SH3 domain and tetratricopeptide repeats 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6309 (G1)|
|Chromosomal Location||61953075-62015715 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61968010 bp|
|Amino Acid Change||Valine to Alanine at position 58 (V58A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055094 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051720]|
|Predicted Effect||probably damaging
AA Change: V58A
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V58A
|Meta Mutation Damage Score||0.1392|
|Coding Region Coverage||
|Validation Efficiency||92% (35/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sh3tc2||
(F):5'- GAAGTAACCACTGTGCACCTC -3'
(R):5'- GGACCTACTTTGTTCCAGGC -3'
(F):5'- ACTGTGCACCTCCTCTGAG -3'
(R):5'- GTTCCAGGCACAGTTCTTGC -3'