|Institutional Source||Beutler Lab|
|Gene Name||SH3 domain and tetratricopeptide repeats 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9218 (G1)|
|Chromosomal Location||61953075-62015715 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61968030 bp (GRCm38)|
|Amino Acid Change||Cysteine to Arginine at position 65 (C65R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055094 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051720]|
AA Change: C65R
PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: C65R
|Coding Region Coverage||
|Validation Efficiency||93% (57/61)|
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'- CTTGAAAGGGAGCTTGGACG -3'
(R):5'- TTCACTCATTCCTGTTAGGCAG -3'
(F):5'- AGCTTGGACGCTCCTTTAAC -3'
(R):5'- TTAGGCAGAACATATGAACTTAACCC -3'