Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:Cps1'

607031

Institutional Source

Beutler Lab

Gene Symbol

Cps1

Ensembl Gene

ENSMUSG00000025991

Gene Name

carbamoyl-phosphate synthetase 1

Synonyms

CPS, 4732433M03Rik, D1Ucla3, CPSase I

MMRRC Submission

045906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67162185-67270418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67213640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 791 (S791P)

Ref Sequence

ENSEMBL: ENSMUSP00000027144 (fasta)

Gene Model

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

AlphaFold

Q8C196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027144
AA Change: S791P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: S791P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,600 (GRCm39)	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,344,592 (GRCm39)	A123S	probably benign	Het
Adamts20	A	C	15: 94,243,871 (GRCm39)	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,575,604 (GRCm39)	V394L	probably benign	Het
Ankrd17	A	C	5: 90,386,825 (GRCm39)	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 72,145,357 (GRCm39)	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,630,266 (GRCm39)	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499 (GRCm39)	A267V	probably benign	Het
Ces1d	C	T	8: 93,901,695 (GRCm39)	G425S	probably benign	Het
Col1a1	G	T	11: 94,838,505 (GRCm39)	R899L	unknown	Het
Commd1	C	T	11: 22,906,532 (GRCm39)	R168H	possibly damaging	Het
Ctsj	T	A	13: 61,151,884 (GRCm39)	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,529,656 (GRCm39)	K238N	probably benign	Het
Dlgap4	A	G	2: 156,547,802 (GRCm39)	D423G	probably benign	Het
Eef1ece2	T	A	16: 20,463,010 (GRCm39)		probably null	Het
Egln1	T	C	8: 125,675,256 (GRCm39)	N180D	probably benign	Het
Ehd1	T	C	19: 6,327,225 (GRCm39)	F74S	probably damaging	Het
Ext1	G	A	15: 52,970,881 (GRCm39)	A350V	probably damaging	Het
Fam186b	T	A	15: 99,178,628 (GRCm39)	I233F	probably damaging	Het
Fam193a	T	G	5: 34,597,473 (GRCm39)	N91K	probably benign	Het
Far1	T	A	7: 113,153,355 (GRCm39)	N329K	probably damaging	Het
Fhad1	A	G	4: 141,637,134 (GRCm39)	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,180,984 (GRCm39)	S69P	probably damaging	Het
Flg2	C	A	3: 93,128,054 (GRCm39)	P2322Q	unknown	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fos	T	A	12: 85,522,792 (GRCm39)	S235T	probably benign	Het
Foxf1	T	A	8: 121,811,438 (GRCm39)	S101T	probably damaging	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,229,034 (GRCm39)	I50V	probably benign	Het
Gkn2	A	G	6: 87,355,255 (GRCm39)	T155A	probably benign	Het
Gna12	C	T	5: 140,746,449 (GRCm39)	C332Y	probably damaging	Het
Hc	T	A	2: 34,900,045 (GRCm39)	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Hsd17b8	T	G	17: 34,246,411 (GRCm39)	D117A	probably benign	Het
Ifi206	A	T	1: 173,299,100 (GRCm39)	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,321,544 (GRCm39)	E65A	probably damaging	Het
Kif5a	A	T	10: 127,071,537 (GRCm39)	Y770*	probably null	Het
Lfng	A	G	5: 140,593,384 (GRCm39)	S72G	probably benign	Het
Lipo2	C	T	19: 33,737,344 (GRCm39)		probably benign	Het
Lnpep	C	T	17: 17,783,109 (GRCm39)	S564N	probably benign	Het
Mfhas1	T	A	8: 36,057,025 (GRCm39)	L500*	probably null	Het
Mllt6	G	A	11: 97,561,142 (GRCm39)	V277I	probably benign	Het
Mroh5	C	T	15: 73,663,189 (GRCm39)	D192N	probably benign	Het
Myo1f	T	A	17: 33,795,672 (GRCm39)	V106D	probably damaging	Het
Mypn	T	A	10: 62,981,652 (GRCm39)	I643F	probably benign	Het
Nup188	A	G	2: 30,213,575 (GRCm39)	N669D	possibly damaging	Het
Or14j5	C	G	17: 38,161,714 (GRCm39)	T77R	probably damaging	Het
Or2r11	A	T	6: 42,437,573 (GRCm39)	C127S	probably damaging	Het
Or5g26	T	C	2: 85,494,689 (GRCm39)	T30A	probably benign	Het
Or8s8	T	C	15: 98,354,866 (GRCm39)	V225A	probably benign	Het
Osbpl10	A	G	9: 115,036,726 (GRCm39)	T241A	probably damaging	Het
Peg3	C	T	7: 6,711,839 (GRCm39)	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,681,068 (GRCm39)	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911 (GRCm39)	L152R	probably damaging	Het
Prr36	G	A	8: 4,263,905 (GRCm39)	P587L	unknown	Het
Psma2	T	A	13: 14,799,832 (GRCm39)	I192N	probably damaging	Het
Rbm11	T	C	16: 75,389,923 (GRCm39)	F30L	probably damaging	Het
Rpap3	G	A	15: 97,576,299 (GRCm39)	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 31,908,807 (GRCm39)	N98Y	probably damaging	Het
Siglec1	A	G	2: 130,923,212 (GRCm39)	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,887,156 (GRCm39)	V228M	probably damaging	Het
Smpd4	T	A	16: 17,460,605 (GRCm39)	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,747,524 (GRCm39)	D75G	not run	Het
Sycp3	A	C	10: 88,302,368 (GRCm39)	K119N	probably damaging	Het
Syne2	T	C	12: 76,078,278 (GRCm39)	L4703P	probably damaging	Het
Tex12	C	G	9: 50,470,523 (GRCm39)	L20F	possibly damaging	Het
Them5	T	A	3: 94,250,603 (GRCm39)	Y55*	probably null	Het
Tmem43	A	T	6: 91,458,968 (GRCm39)	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 70,005,239 (GRCm39)	Q44P	unknown	Het
Trbv2	A	T	6: 41,024,836 (GRCm39)	Q84L	probably benign	Het
Trim2	C	T	3: 84,212,537 (GRCm39)		probably benign	Het
Trim36	A	G	18: 46,305,558 (GRCm39)	V475A	probably benign	Het
Ttbk1	C	A	17: 46,758,269 (GRCm39)	E788D	probably benign	Het
Ttn	T	C	2: 76,543,626 (GRCm39)	D33120G	probably damaging	Het
Ttn	T	A	2: 76,576,256 (GRCm39)	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,864,308 (GRCm39)	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,168,980 (GRCm39)	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,485,987 (GRCm39)	K434E	possibly damaging	Het
Vta1	T	C	10: 14,531,461 (GRCm39)	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		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
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
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'- TTCCGTCAAGTCTGGAGTTG -3'
(R):5'- GAAGCACTGTTAAAACACTAACTAGG -3'

Sequencing Primer
(F):5'- AATGAAGCTAACTCTGCCTCCTG -3'
(R):5'- TAGGAAACGAAACTTCTAGCAGC -3'

Posted On

2019-12-20