|Institutional Source||Beutler Lab|
|Gene Name||SH3 domain and tetratricopeptide repeats 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1636 (G1)|
|Chromosomal Location||61953075-62015715 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61989721 bp|
|Amino Acid Change||Tryptophan to Arginine at position 518 (W518R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055094 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051720]|
|Predicted Effect||probably damaging
AA Change: W518R
PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: W518R
|Meta Mutation Damage Score||0.134|
|Coding Region Coverage||
|Validation Efficiency||96% (85/89)|
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'- AGGATGATGTGGAGCACTTTGCCC -3'
(R):5'- TCTGCGAATGGCACAACTTCCTC -3'
(F):5'- GAGCACTTTGCCCCCATC -3'
(R):5'- ACTGAACTCATGGTCTGGCAG -3'