Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Cps1'

449136

Institutional Source

Beutler Lab

Gene Symbol

Cps1

Ensembl Gene

ENSMUSG00000025991

Gene Name

carbamoyl-phosphate synthetase 1

Synonyms

CPS, 4732433M03Rik, D1Ucla3, CPSase I

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67162185-67270418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67205647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 557 (I557F)

Ref Sequence

ENSEMBL: ENSMUSP00000027144 (fasta)

Gene Model

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

AlphaFold

Q8C196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027144
AA Change: I557F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: I557F

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

0.8844

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	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
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
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'- TCAGTGTTTGTTAAGAAGAGATGGA -3'
(R):5'- CAGTTTTAGCTCTGAATGCTGCT -3'

Sequencing Primer
(F):5'- AGATGGAGTTTGGGATTAAGAAATC -3'
(R):5'- GCTCTGAATGCTGCTATTAATTCAC -3'

Posted On

2016-12-20