|Institutional Source||Beutler Lab|
|Gene Name||NK2 homeobox 5|
|Synonyms||Csx, Nkx2.5, Nkx-2.5, tinman|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7223 (G1)|
|Chromosomal Location||26838664-26841565 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 26839620 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 120 (E120G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015723 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015723]|
|Predicted Effect||possibly damaging
AA Change: E120G
PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: E120G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants show cardiac development arrest after looping, growth retardation, hematopoiesis and angiogenesis defects in yolk sac, and die at embryonic day 9-10. Heterozygotes also show cardiac developmental defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nkx2-5||
(F):5'- AGATCTTGACCTGCGTGGAC -3'
(R):5'- TTCCCAGATGCGCAATTGC -3'
(F):5'- TGGACGTGAGCTTCAGCAC -3'
(R):5'- GCAATTGCGCCAACATCG -3'