|Institutional Source||Beutler Lab|
|Gene Name||T-box 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||PIT4480001 (G1)|
|Chromosomal Location||85832551-85841948 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 85834735 bp|
|Amino Acid Change||Arginine to Cysteine at position 171 (R171C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000095 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000095]|
|Predicted Effect||probably damaging
AA Change: R171C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R171C
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbx2||
(F):5'- TCATGTCATTGTCGGGAAGG -3'
(R):5'- GGTGTTCAACTAATGCTCCCC -3'
(F):5'- TCATGTCATTGTCGGGAAGGTAAAG -3'
(R):5'- GGTGTTCAACTAATGCTCCCCTCTAG -3'