|Institutional Source||Beutler Lab|
|Gene Name||caudal type homeobox 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0239 (G1)|
|Chromosomal Location||147300805-147307270 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 147303287 bp|
|Amino Acid Change||Threonine to Lysine at position 193 (T193K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031650 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031650]|
|Predicted Effect||probably damaging
AA Change: T193K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T193K
|Meta Mutation Damage Score||0.326|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations die prior to gastrulation. Heterozygotes exhibit tail abnormalities, stunted growth, defects of the vertebrae and ribs, and multiple intestinal adenomatous polyps. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdx2||
(F):5'- GCTACCCATTAAGATTGCCCCAGG -3'
(R):5'- CCTTTCAGGTTAGTTGTGCCTCCAG -3'
(F):5'- GATTGCCCCAGGCCATAATAAC -3'
(R):5'- ATCCTGTGAGTGGATATTGTCAACC -3'