|Institutional Source||Beutler Lab|
|Gene Name||SH3 and PX domains 2B|
|Synonyms||G431001E03Rik, Fad49, Tsk4|
|Is this an essential gene?||Possibly essential (E-score: 0.580)|
|Stock #||R6392 (G1)|
|Chromosomal Location||32347820-32428173 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32423302 bp|
|Amino Acid Change||Leucine to Glutamine at position 823 (L823Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044276 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038753]|
|Predicted Effect||possibly damaging
AA Change: L823Q
PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: L823Q
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit abnormal craniofacial morphology, decreased bone density, impaired hearing secondary to otis media, reduced growth, size, and weight, and decreased white adipose tissue. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sh3pxd2b||
(F):5'- CTGTCCAAGAAGCAACCCTG -3'
(R):5'- AAGCTAGGGTTTCTTCCGGAG -3'
(F):5'- CTGCAGCAAAGACCTGTGG -3'
(R):5'- CACTGAGGACCTGGCAGAAC -3'