Mutagenetix > Incidental Mutation

Incidental Mutation 'R5878:Cps1'

455630

Institutional Source

Beutler Lab

Gene Symbol

Cps1

Ensembl Gene

ENSMUSG00000025991

Gene Name

carbamoyl-phosphate synthetase 1

Synonyms

CPS, 4732433M03Rik, D1Ucla3, CPSase I

MMRRC Submission

044084-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67162185-67270418 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 67197037 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

0.9495

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,385,792 (GRCm39)	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286 (GRCm38)	V6I	probably benign	Het
Afap1l2	T	C	19: 56,904,107 (GRCm39)	T727A	probably benign	Het
Aggf1	T	C	13: 95,506,065 (GRCm39)	E174G	probably benign	Het
Ahnak	T	G	19: 8,985,706 (GRCm39)	L2330R	probably damaging	Het
Arb2a	T	A	13: 78,100,186 (GRCm39)	V129E	probably damaging	Het
Arfgef2	A	G	2: 166,712,137 (GRCm39)	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,233,827 (GRCm39)	L217P	probably benign	Het
Cfap54	T	C	10: 92,800,423 (GRCm39)	D1595G	probably benign	Het
Fam120b	A	G	17: 15,622,502 (GRCm39)	D160G	probably damaging	Het
Fezf1	C	A	6: 23,247,580 (GRCm39)	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,225,145 (GRCm39)	L838H	probably benign	Het
Frmd3	G	A	4: 74,071,847 (GRCm39)	G243D	probably damaging	Het
Gldc	A	T	19: 30,120,867 (GRCm39)		probably null	Het
Gm10188	T	C	1: 132,156,940 (GRCm39)		probably benign	Het
Gm5190	T	A	12: 113,360,859 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,208,628 (GRCm39)		probably null	Het
Hdhd5	A	G	6: 120,491,485 (GRCm39)	L206P	probably damaging	Het
Herc2	A	G	7: 55,773,996 (GRCm39)	N1149S	probably benign	Het
Inca1	G	A	11: 70,586,808 (GRCm39)		probably benign	Het
Iqch	G	A	9: 63,455,272 (GRCm39)	S175F	probably damaging	Het
Itpr3	T	G	17: 27,329,836 (GRCm39)	D1543E	probably benign	Het
Khk	T	A	5: 31,088,219 (GRCm39)		probably null	Het
Kiz	C	T	2: 146,731,521 (GRCm39)	S337L	probably damaging	Het
Lzts3	G	A	2: 130,478,459 (GRCm39)	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,454,025 (GRCm39)	D325V	probably damaging	Het
Mctp2	A	G	7: 71,863,856 (GRCm39)	S336P	probably benign	Het
Me3	T	A	7: 89,497,214 (GRCm39)	L405Q	probably benign	Het
Mgst2	A	T	3: 51,568,651 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,083,330 (GRCm39)	E1431G	probably damaging	Het
Naip6	A	G	13: 100,436,181 (GRCm39)	S781P	probably damaging	Het
Nr3c2	A	G	8: 77,634,897 (GRCm39)		probably null	Het
Or10ab5	A	T	7: 108,244,946 (GRCm39)	L279Q	probably damaging	Het
Or6s1	A	G	14: 51,308,449 (GRCm39)	Y134H	probably damaging	Het
Or6x1	C	T	9: 40,098,867 (GRCm39)	T152I	probably benign	Het
Otop1	G	T	5: 38,435,166 (GRCm39)	R132L	possibly damaging	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,820,739 (GRCm39)	G763W	probably benign	Het
Pde10a	A	G	17: 9,168,204 (GRCm39)	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,089,080 (GRCm39)	I147T	probably benign	Het
Polh	T	A	17: 46,505,251 (GRCm39)	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,624,984 (GRCm39)	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,705,748 (GRCm39)	C132F	probably damaging	Het
Rbm19	T	A	5: 120,270,932 (GRCm39)	V585E	probably damaging	Het
Relch	T	A	1: 105,620,685 (GRCm39)	S387T	probably benign	Het
Rp1l1	C	T	14: 64,266,355 (GRCm39)	P647L	probably benign	Het
Rrp1b	A	G	17: 32,266,649 (GRCm39)	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,798,742 (GRCm39)	H392Q	probably benign	Het
Skic2	C	T	17: 35,065,093 (GRCm39)	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,144,217 (GRCm39)	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,904,122 (GRCm39)	E5V	probably benign	Het
Slc38a2	A	G	15: 96,590,465 (GRCm39)	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,391,561 (GRCm39)		probably benign	Het
Sri	G	C	5: 8,109,353 (GRCm39)	D46H	probably damaging	Het
Tango6	A	G	8: 107,415,800 (GRCm39)	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,501,749 (GRCm39)	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,172 (GRCm39)	D194G	probably benign	Het
Trank1	T	C	9: 111,195,753 (GRCm39)	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,386,255 (GRCm39)	D70G	probably benign	Het
Trim52	T	A	14: 106,344,375 (GRCm39)	M11K	probably damaging	Het
Wdr62	A	G	7: 29,940,772 (GRCm39)	M882T	probably benign	Het
Ybx3	A	G	6: 131,344,726 (GRCm39)		probably null	Het
Zfand2b	A	G	1: 75,147,154 (GRCm39)		probably benign	Het
Zfp91	T	A	19: 12,747,684 (GRCm39)	T480S	possibly damaging	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
R4386:Cps1	UTSW	1	67,210,154 (GRCm39)	critical splice donor site	probably null
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
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'- TCCGCGAACGCTGTTGAAAG -3'
(R):5'- GGTGCAAGTGCTGACTCTTAAC -3'

Sequencing Primer
(F):5'- CGAACGCTGTTGAAAGTTCTG -3'
(R):5'- ATCCAGTTCAATGAGTGACCCTG -3'

Posted On

2017-02-10