|Institutional Source||Beutler Lab|
|Gene Name||carbamoyl-phosphate synthetase 1|
|Synonyms||CPSase I, D1Ucla3, CPS, 4732433M03Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2860 (G1)|
|Chromosomal Location||67123026-67231259 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 67166375 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 519 (E519V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027144 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027144]|
|Predicted Effect||probably benign
AA Change: E519V
PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: E519V
|Meta Mutation Damage Score||0.8535|
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
FUNCTION: This gene encodes a protein localized to the inner mitochondrial matrix. The encoded protein plays a role in the detoxification of ammonia by catalyzing the first step in the urea cycle in which carbomyl-phosphate is synthesized from ammonia and bicarbonate. Carbamoyl-phosphate is subsequently converted to urea that is excreted by the kidneys. Deficiency of the encoded enzyme leads to an accumulation of ammonia in the blood. High levels of ammonia are toxic to the central nervous system and result in neurological disorders. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cps1||
(F):5'- GGTGTCTCCTTGAATGCAATTTC -3'
(R):5'- TAATGTGTGCCCATCTCCCAAG -3'
(F):5'- CTGCATGATCAGTCAAGTGC -3'
(R):5'- GAACAAAGTGCCTTACTGATTCC -3'