Mutagenetix > Incidental Mutation

Incidental Mutation 'R4386:Cps1'

326203

Institutional Source

Beutler Lab

Gene Symbol

Cps1

Ensembl Gene

ENSMUSG00000025991

Gene Name

carbamoyl-phosphate synthetase 1

Synonyms

CPS, 4732433M03Rik, D1Ucla3, CPSase I

MMRRC Submission

041680-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4386 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67162185-67270418 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 67210154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027144]

AlphaFold

Q8C196

Predicted Effect

probably null
Transcript: ENSMUST00000027144

SMART Domains

Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991

Domain	Start	End	E-Value	Type
CPSase_sm_chain	44	184	2.5e-70	SMART
Pfam:GATase	221	397	1.5e-40	PFAM
low complexity region	426	436	N/A	INTRINSIC
Pfam:ATP-grasp_4	543	724	6.8e-12	PFAM
Pfam:CPSase_L_D2	546	750	1.7e-85	PFAM
Pfam:ATP-grasp	554	722	4.9e-8	PFAM
Pfam:Dala_Dala_lig_C	561	718	1.5e-7	PFAM
CPSase_L_D3	839	962	1.18e-57	SMART
Pfam:ATP-grasp_4	1085	1264	1e-19	PFAM
Pfam:CPSase_L_D2	1088	1291	7.4e-32	PFAM
Pfam:Dala_Dala_lig_C	1095	1279	1.6e-6	PFAM
Pfam:ATP-grasp	1096	1263	2.8e-12	PFAM
MGS	1373	1465	1.53e-15	SMART

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (48/48)

MGI Phenotype

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

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,379,982 (GRCm39)		probably null	Het
Acsm3	G	T	7: 119,373,094 (GRCm39)	W199L	probably damaging	Het
Arap1	T	A	7: 101,034,778 (GRCm39)	D236E	probably benign	Het
Arhgap1	T	C	2: 91,498,582 (GRCm39)	Y160H	probably damaging	Het
Arid1b	A	G	17: 5,045,247 (GRCm39)		probably benign	Het
Cdc25a	A	G	9: 109,718,801 (GRCm39)	E334G	probably damaging	Het
Ciz1	C	T	2: 32,260,111 (GRCm39)	T219M	possibly damaging	Het
Cluap1	A	C	16: 3,751,586 (GRCm39)	D315A	possibly damaging	Het
Cul2	T	C	18: 3,434,856 (GRCm39)	S668P	probably damaging	Het
Fah	T	A	7: 84,248,344 (GRCm39)	T125S	probably damaging	Het
Fam221a	G	A	6: 49,355,366 (GRCm39)	C156Y	probably damaging	Het
Gm6158	G	T	14: 24,120,362 (GRCm39)		noncoding transcript	Het
Hbq1b	T	A	11: 32,237,295 (GRCm39)	V63E	probably damaging	Het
Ighv6-5	G	A	12: 114,380,337 (GRCm39)	T79I	possibly damaging	Het
Kif12	G	A	4: 63,089,455 (GRCm39)	T99M	probably damaging	Het
Kif1a	T	A	1: 92,996,272 (GRCm39)	K298M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Marchf4	G	A	1: 72,467,973 (GRCm39)	P353L	probably benign	Het
Nadk	A	T	4: 155,667,032 (GRCm39)		probably benign	Het
Ncoa2	T	C	1: 13,247,389 (GRCm39)	T345A	probably damaging	Het
Niban3	A	G	8: 72,060,155 (GRCm39)		probably benign	Het
Nsun6	T	A	2: 15,001,333 (GRCm39)	M408L	probably benign	Het
Nuak1	T	A	10: 84,229,908 (GRCm39)	E155V	probably damaging	Het
Oosp1	C	T	19: 11,645,158 (GRCm39)	V169I	possibly damaging	Het
Or13c7c	C	T	4: 43,836,124 (GRCm39)	R122H	probably benign	Het
Or2t26	T	A	11: 49,039,842 (GRCm39)	Y253N	probably damaging	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Or5p81	T	A	7: 108,267,460 (GRCm39)	V279E	probably damaging	Het
Pabpc2	T	C	18: 39,908,238 (GRCm39)	V501A	probably benign	Het
Pik3c2a	A	G	7: 115,953,334 (GRCm39)	V1187A	probably damaging	Het
Pkhd1	A	G	1: 20,484,516 (GRCm39)	V2013A	probably benign	Het
Psmd1	T	A	1: 86,055,914 (GRCm39)	S759T	possibly damaging	Het
Scgb1b2	T	A	7: 30,990,089 (GRCm39)	K86N	possibly damaging	Het
Sdk1	T	C	5: 142,080,381 (GRCm39)	I1291T	probably damaging	Het
Skint5	T	C	4: 113,341,090 (GRCm39)	Y1396C	probably benign	Het
Slc24a3	A	G	2: 145,448,746 (GRCm39)	E380G	probably benign	Het
Spock1	A	G	13: 57,588,263 (GRCm39)	S270P	probably damaging	Het
Tmem128	T	C	5: 38,419,418 (GRCm39)	S57P	probably damaging	Het
Tmem186	G	A	16: 8,453,887 (GRCm39)	R125W	probably benign	Het
Tnfaip3	A	G	10: 18,882,758 (GRCm39)	S220P	probably damaging	Het
Usp45	T	C	4: 21,830,505 (GRCm39)		probably null	Het
Usp5	C	T	6: 124,795,437 (GRCm39)		probably null	Het
Vmn1r35	A	T	6: 66,656,573 (GRCm39)	C32*	probably null	Het
Vmn2r112	T	A	17: 22,820,303 (GRCm39)	F59I	probably benign	Het
Wfdc9	A	T	2: 164,492,458 (GRCm39)	S56R	probably benign	Het
Zfp369	A	G	13: 65,444,806 (GRCm39)	I650V	probably benign	Het

Other mutations in Cps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Cps1	APN	1	67,191,539 (GRCm39)	splice site	probably benign
IGL00897:Cps1	APN	1	67,254,723 (GRCm39)	missense	probably benign	0.08
IGL00928:Cps1	APN	1	67,162,393 (GRCm39)	missense	probably benign
IGL01063:Cps1	APN	1	67,234,325 (GRCm39)	missense	possibly damaging	0.91
IGL01081:Cps1	APN	1	67,245,983 (GRCm39)	missense	probably damaging	1.00
IGL01361:Cps1	APN	1	67,234,304 (GRCm39)	missense	probably benign	0.03
IGL01396:Cps1	APN	1	67,196,945 (GRCm39)	missense	probably damaging	1.00
IGL01516:Cps1	APN	1	67,269,443 (GRCm39)	missense	probably damaging	0.99
IGL01695:Cps1	APN	1	67,236,194 (GRCm39)	missense	probably benign
IGL02022:Cps1	APN	1	67,212,031 (GRCm39)	splice site	probably benign
IGL02032:Cps1	APN	1	67,269,474 (GRCm39)	missense	probably benign	0.03
IGL02049:Cps1	APN	1	67,183,113 (GRCm39)	missense	possibly damaging	0.68
IGL02197:Cps1	APN	1	67,196,923 (GRCm39)	missense	probably benign
IGL02217:Cps1	APN	1	67,213,541 (GRCm39)	missense	probably benign	0.06
IGL02555:Cps1	APN	1	67,253,180 (GRCm39)	missense	probably benign	0.06
IGL02570:Cps1	APN	1	67,187,862 (GRCm39)	splice site	probably benign
IGL02633:Cps1	APN	1	67,162,396 (GRCm39)	missense	probably benign
IGL02711:Cps1	APN	1	67,251,676 (GRCm39)	splice site	probably benign
IGL02737:Cps1	APN	1	67,187,933 (GRCm39)	missense	probably benign	0.35
IGL03030:Cps1	APN	1	67,182,080 (GRCm39)	missense	probably damaging	1.00
IGL03255:Cps1	APN	1	67,184,960 (GRCm39)	nonsense	probably null
Madman	UTSW	1	67,200,030 (GRCm39)	missense	probably damaging	0.96
maniac	UTSW	1	67,197,037 (GRCm39)	critical splice donor site	probably null
R0109:Cps1	UTSW	1	67,268,577 (GRCm39)	missense	possibly damaging	0.82
R0109:Cps1	UTSW	1	67,268,577 (GRCm39)	missense	possibly damaging	0.82
R0140:Cps1	UTSW	1	67,219,275 (GRCm39)	missense	probably benign
R0318:Cps1	UTSW	1	67,216,173 (GRCm39)	missense	probably damaging	0.99
R0486:Cps1	UTSW	1	67,204,551 (GRCm39)	missense	probably damaging	1.00
R0488:Cps1	UTSW	1	67,187,967 (GRCm39)	splice site	probably benign
R0492:Cps1	UTSW	1	67,196,995 (GRCm39)	missense	probably damaging	1.00
R0521:Cps1	UTSW	1	67,254,723 (GRCm39)	missense	probably benign	0.02
R0534:Cps1	UTSW	1	67,183,059 (GRCm39)	missense	probably benign	0.06
R0565:Cps1	UTSW	1	67,205,608 (GRCm39)	missense	possibly damaging	0.57
R0609:Cps1	UTSW	1	67,211,961 (GRCm39)	missense	probably damaging	1.00
R0612:Cps1	UTSW	1	67,178,929 (GRCm39)	missense	probably benign	0.01
R1185:Cps1	UTSW	1	67,234,358 (GRCm39)	missense	probably benign	0.00
R1185:Cps1	UTSW	1	67,234,358 (GRCm39)	missense	probably benign	0.00
R1185:Cps1	UTSW	1	67,234,358 (GRCm39)	missense	probably benign	0.00
R1220:Cps1	UTSW	1	67,243,862 (GRCm39)	critical splice donor site	probably null
R1321:Cps1	UTSW	1	67,182,178 (GRCm39)	splice site	probably benign
R1343:Cps1	UTSW	1	67,248,768 (GRCm39)	missense	probably damaging	1.00
R1373:Cps1	UTSW	1	67,268,583 (GRCm39)	missense	possibly damaging	0.89
R1374:Cps1	UTSW	1	67,269,440 (GRCm39)	missense	probably damaging	0.97
R1481:Cps1	UTSW	1	67,183,041 (GRCm39)	missense	probably damaging	0.99
R1711:Cps1	UTSW	1	67,207,533 (GRCm39)	splice site	probably null
R1712:Cps1	UTSW	1	67,269,440 (GRCm39)	missense	probably damaging	0.97
R1774:Cps1	UTSW	1	67,210,041 (GRCm39)	missense	possibly damaging	0.94
R1799:Cps1	UTSW	1	67,248,801 (GRCm39)	missense	probably damaging	1.00
R1954:Cps1	UTSW	1	67,234,355 (GRCm39)	missense	possibly damaging	0.71
R2074:Cps1	UTSW	1	67,243,797 (GRCm39)	missense	probably benign	0.21
R2078:Cps1	UTSW	1	67,234,424 (GRCm39)	missense	possibly damaging	0.74
R2078:Cps1	UTSW	1	67,196,965 (GRCm39)	missense	probably damaging	1.00
R2111:Cps1	UTSW	1	67,216,139 (GRCm39)	missense	probably benign	0.01
R2112:Cps1	UTSW	1	67,216,139 (GRCm39)	missense	probably benign	0.01
R2146:Cps1	UTSW	1	67,191,538 (GRCm39)	splice site	probably benign
R2355:Cps1	UTSW	1	67,195,383 (GRCm39)	missense	probably damaging	1.00
R2375:Cps1	UTSW	1	67,257,019 (GRCm39)	missense	probably benign	0.00
R2860:Cps1	UTSW	1	67,205,534 (GRCm39)	missense	probably benign	0.44
R2861:Cps1	UTSW	1	67,205,534 (GRCm39)	missense	probably benign	0.44
R2979:Cps1	UTSW	1	67,243,863 (GRCm39)	critical splice donor site	probably null
R3427:Cps1	UTSW	1	67,213,653 (GRCm39)	missense	probably damaging	1.00
R3833:Cps1	UTSW	1	67,178,946 (GRCm39)	missense	probably damaging	1.00
R3857:Cps1	UTSW	1	67,207,437 (GRCm39)	missense	probably damaging	1.00
R3858:Cps1	UTSW	1	67,207,437 (GRCm39)	missense	probably damaging	1.00
R3859:Cps1	UTSW	1	67,207,437 (GRCm39)	missense	probably damaging	1.00
R3886:Cps1	UTSW	1	67,204,659 (GRCm39)	missense	possibly damaging	0.83
R3887:Cps1	UTSW	1	67,204,659 (GRCm39)	missense	possibly damaging	0.83
R3888:Cps1	UTSW	1	67,204,659 (GRCm39)	missense	possibly damaging	0.83
R3889:Cps1	UTSW	1	67,204,659 (GRCm39)	missense	possibly damaging	0.83
R4497:Cps1	UTSW	1	67,244,358 (GRCm39)	missense	probably null	1.00
R4671:Cps1	UTSW	1	67,235,719 (GRCm39)	missense	probably damaging	1.00
R4774:Cps1	UTSW	1	67,259,671 (GRCm39)	missense	probably damaging	0.99
R4799:Cps1	UTSW	1	67,182,145 (GRCm39)	missense	probably damaging	0.96
R4853:Cps1	UTSW	1	67,195,361 (GRCm39)	missense	possibly damaging	0.51
R4884:Cps1	UTSW	1	67,216,183 (GRCm39)	missense	probably benign	0.11
R4900:Cps1	UTSW	1	67,200,063 (GRCm39)	missense	probably damaging	1.00
R4906:Cps1	UTSW	1	67,178,922 (GRCm39)	missense	probably benign	0.10
R5091:Cps1	UTSW	1	67,268,679 (GRCm39)	critical splice donor site	probably null
R5102:Cps1	UTSW	1	67,245,952 (GRCm39)	missense	probably benign	0.00
R5215:Cps1	UTSW	1	67,205,539 (GRCm39)	missense	possibly damaging	0.62
R5290:Cps1	UTSW	1	67,211,868 (GRCm39)	missense	probably benign	0.21
R5732:Cps1	UTSW	1	67,196,923 (GRCm39)	missense	probably benign	0.22
R5818:Cps1	UTSW	1	67,205,647 (GRCm39)	missense	possibly damaging	0.96
R5878:Cps1	UTSW	1	67,197,037 (GRCm39)	critical splice donor site	probably null
R6002:Cps1	UTSW	1	67,211,914 (GRCm39)	missense	possibly damaging	0.94
R6034:Cps1	UTSW	1	67,196,872 (GRCm39)	splice site	probably null
R6034:Cps1	UTSW	1	67,196,872 (GRCm39)	splice site	probably null
R6199:Cps1	UTSW	1	67,201,774 (GRCm39)	frame shift	probably null
R6310:Cps1	UTSW	1	67,182,140 (GRCm39)	missense	probably benign	0.00
R6554:Cps1	UTSW	1	67,213,628 (GRCm39)	nonsense	probably null
R6700:Cps1	UTSW	1	67,268,682 (GRCm39)	splice site	probably null
R6731:Cps1	UTSW	1	67,200,030 (GRCm39)	missense	probably damaging	0.96
R7052:Cps1	UTSW	1	67,237,569 (GRCm39)	missense	probably damaging	1.00
R7278:Cps1	UTSW	1	67,210,080 (GRCm39)	missense	probably damaging	1.00
R7313:Cps1	UTSW	1	67,237,517 (GRCm39)	missense	probably damaging	0.99
R7323:Cps1	UTSW	1	67,197,028 (GRCm39)	missense	probably benign	0.03
R7339:Cps1	UTSW	1	67,236,174 (GRCm39)	missense	possibly damaging	0.64
R7485:Cps1	UTSW	1	67,179,016 (GRCm39)	missense	probably damaging	1.00
R7505:Cps1	UTSW	1	67,219,240 (GRCm39)	missense	probably benign
R7748:Cps1	UTSW	1	67,178,965 (GRCm39)	missense	probably damaging	1.00
R7853:Cps1	UTSW	1	67,213,640 (GRCm39)	missense	possibly damaging	0.92
R8097:Cps1	UTSW	1	67,267,429 (GRCm39)	missense	probably benign	0.08
R8357:Cps1	UTSW	1	67,196,013 (GRCm39)	missense	probably damaging	1.00
R8435:Cps1	UTSW	1	67,251,589 (GRCm39)	missense	probably benign	0.07
R8457:Cps1	UTSW	1	67,196,013 (GRCm39)	missense	probably damaging	1.00
R8680:Cps1	UTSW	1	67,243,772 (GRCm39)	missense	probably damaging	1.00
R8805:Cps1	UTSW	1	67,216,110 (GRCm39)	missense	probably damaging	1.00
R8811:Cps1	UTSW	1	67,253,246 (GRCm39)	missense	probably benign	0.03
R8819:Cps1	UTSW	1	67,267,439 (GRCm39)	missense	possibly damaging	0.56
R8820:Cps1	UTSW	1	67,267,439 (GRCm39)	missense	possibly damaging	0.56
R8854:Cps1	UTSW	1	67,200,048 (GRCm39)	missense	probably damaging	1.00
R9138:Cps1	UTSW	1	67,254,569 (GRCm39)	missense	probably damaging	1.00
R9185:Cps1	UTSW	1	67,248,831 (GRCm39)	missense	probably benign	0.08
R9273:Cps1	UTSW	1	67,191,445 (GRCm39)	missense	possibly damaging	0.69
R9286:Cps1	UTSW	1	67,198,030 (GRCm39)	missense	probably damaging	0.99
R9308:Cps1	UTSW	1	67,200,118 (GRCm39)	critical splice donor site	probably null
R9326:Cps1	UTSW	1	67,248,795 (GRCm39)	missense	probably damaging	1.00
R9449:Cps1	UTSW	1	67,259,671 (GRCm39)	missense	probably damaging	0.99
R9454:Cps1	UTSW	1	67,219,311 (GRCm39)	missense	probably damaging	0.97
R9518:Cps1	UTSW	1	67,259,662 (GRCm39)	missense	probably damaging	1.00
R9564:Cps1	UTSW	1	67,198,048 (GRCm39)	missense	probably benign	0.26
R9585:Cps1	UTSW	1	67,195,341 (GRCm39)	missense	probably damaging	0.99
R9618:Cps1	UTSW	1	67,196,975 (GRCm39)	missense	possibly damaging	0.87
R9641:Cps1	UTSW	1	67,234,342 (GRCm39)	missense	probably benign	0.03
R9650:Cps1	UTSW	1	67,254,636 (GRCm39)	missense
R9668:Cps1	UTSW	1	67,213,649 (GRCm39)	missense	probably benign	0.24
R9726:Cps1	UTSW	1	67,195,395 (GRCm39)	missense	probably benign	0.39
X0024:Cps1	UTSW	1	67,162,406 (GRCm39)	missense	probably benign
Z1176:Cps1	UTSW	1	67,187,878 (GRCm39)	frame shift	probably null
Z1176:Cps1	UTSW	1	67,162,427 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- AAATCTTTGGTATCTCTGCCATCG -3'
(R):5'- CCCCATTGAAATCAGGATTGCAG -3'

Sequencing Primer
(F):5'- GATTTCCAGGCATTTGCTATGAC -3'
(R):5'- CAGGATTGCAGTATCTATCATGCTG -3'

Posted On

2015-07-06