Incidental Mutation 'R7505:Cps1'
ID 581700
Institutional Source Beutler Lab
Gene Symbol Cps1
Ensembl Gene ENSMUSG00000025991
Gene Name carbamoyl-phosphate synthetase 1
Synonyms CPS, 4732433M03Rik, D1Ucla3, CPSase I
MMRRC Submission 045578-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 67162185-67270418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67219240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 860 (N860S)
Ref Sequence ENSEMBL: ENSMUSP00000027144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027144]
AlphaFold Q8C196
Predicted Effect probably benign
Transcript: ENSMUST00000027144
AA Change: N860S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: N860S

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T A 15: 91,033,260 (GRCm39) N719Y possibly damaging Het
Adamts2 T C 11: 50,687,347 (GRCm39) I1058T probably benign Het
Alb T A 5: 90,617,368 (GRCm39) Y356N probably damaging Het
Ankrd52 A G 10: 128,225,924 (GRCm39) N971D probably damaging Het
Atp6v1c2 A G 12: 17,347,724 (GRCm39) probably null Het
Atp6v1h A T 1: 5,194,561 (GRCm39) I247L probably benign Het
Cacna1s C T 1: 136,013,187 (GRCm39) R593* probably null Het
Cacna2d3 C T 14: 28,767,501 (GRCm39) probably null Het
Cdh15 G A 8: 123,575,231 (GRCm39) G2D probably benign Het
Cebpe G T 14: 54,948,113 (GRCm39) N243K probably damaging Het
Celf2 A T 2: 6,629,511 (GRCm39) M136K probably damaging Het
Cep290 A G 10: 100,352,127 (GRCm39) I778V probably benign Het
Col22a1 A T 15: 71,671,248 (GRCm39) C1592* probably null Het
Cpne2 A T 8: 95,275,094 (GRCm39) N34I possibly damaging Het
Disp2 T G 2: 118,621,569 (GRCm39) L767R probably damaging Het
Eif1ad19 A T 12: 87,740,270 (GRCm39) N96K probably benign Het
Evpl A G 11: 116,117,813 (GRCm39) probably null Het
F7 A T 8: 13,078,745 (GRCm39) N59Y possibly damaging Het
Fam98a A T 17: 75,845,233 (GRCm39) H504Q unknown Het
Fbxo4 G A 15: 4,000,903 (GRCm39) R270C probably benign Het
Fcgbp T C 7: 27,789,099 (GRCm39) V555A probably damaging Het
Fgf4 T C 7: 144,415,498 (GRCm39) V86A possibly damaging Het
Fpgt G T 3: 154,792,413 (GRCm39) A538D possibly damaging Het
Gars1 A G 6: 55,029,162 (GRCm39) T181A probably benign Het
Gask1a G C 9: 121,805,483 (GRCm39) G425R probably benign Het
Gbx2 A G 1: 89,856,455 (GRCm39) S312P probably benign Het
Gm29735 C T 7: 141,710,327 (GRCm39) C175Y unknown Het
Gm7995 A G 14: 42,132,314 (GRCm39) T49A Het
Hnrnpk A G 13: 58,547,783 (GRCm39) M27T probably benign Het
Idh3b A G 2: 130,126,147 (GRCm39) S20P probably benign Het
Idh3b G C 2: 130,126,153 (GRCm39) R18G probably benign Het
Ighg2b T A 12: 113,268,600 (GRCm39) T354S Het
Lrfn2 T A 17: 49,403,479 (GRCm39) M534K probably benign Het
Mcpt8 G A 14: 56,320,548 (GRCm39) A127V probably benign Het
Msi2 A T 11: 88,304,743 (GRCm39) N176K possibly damaging Het
Mtr G T 13: 12,236,362 (GRCm39) D621E probably benign Het
Nlrp5 T A 7: 23,106,925 (GRCm39) I63N probably benign Het
Nol6 T C 4: 41,120,352 (GRCm39) D455G probably damaging Het
Nrde2 A T 12: 100,098,757 (GRCm39) S637T probably benign Het
Ntn4 G T 10: 93,543,146 (GRCm39) G291W probably damaging Het
Or13a28 C A 7: 140,217,965 (GRCm39) T117K probably damaging Het
Or4d10 T A 19: 12,051,969 (GRCm39) E9V possibly damaging Het
Otof T A 5: 30,528,364 (GRCm39) T1865S probably benign Het
Plec A T 15: 76,065,394 (GRCm39) S1559T unknown Het
Plekhm1 C T 11: 103,270,855 (GRCm39) probably null Het
Plin4 T A 17: 56,416,357 (GRCm39) Q49L possibly damaging Het
Polrmt A G 10: 79,573,717 (GRCm39) F995L probably benign Het
Polrmt A G 10: 79,579,010 (GRCm39) probably null Het
Pramel16 A G 4: 143,676,273 (GRCm39) I277T possibly damaging Het
Pramel28 C T 4: 143,691,556 (GRCm39) C389Y probably benign Het
Rims1 T C 1: 22,573,077 (GRCm39) T375A possibly damaging Het
Ryr3 A T 2: 112,542,774 (GRCm39) M3145K probably damaging Het
S100a11 A G 3: 93,433,339 (GRCm39) K61R probably benign Het
Sar1a A G 10: 61,527,073 (GRCm39) T164A probably benign Het
Sec31b C T 19: 44,532,146 (GRCm39) A25T probably damaging Het
Smpd2 A G 10: 41,363,350 (GRCm39) V371A probably benign Het
Speer1g T A 5: 11,181,135 (GRCm39) Y141N possibly damaging Het
Spg11 A T 2: 121,905,832 (GRCm39) L1271* probably null Het
Svep1 T C 4: 58,115,862 (GRCm39) T944A possibly damaging Het
Taf6 A T 5: 138,178,207 (GRCm39) C431* probably null Het
Tdrd6 A G 17: 43,938,570 (GRCm39) V826A not run Het
Tent4a G T 13: 69,655,047 (GRCm39) P476T probably damaging Het
Tmem132a A G 19: 10,836,037 (GRCm39) V831A probably damaging Het
Tnfrsf8 T G 4: 144,995,685 (GRCm39) D458A probably damaging Het
Trpv5 A G 6: 41,651,590 (GRCm39) I196T probably damaging Het
Ttn T A 2: 76,608,898 (GRCm39) D17706V probably damaging Het
Uimc1 T C 13: 55,223,444 (GRCm39) Y276C probably damaging Het
Usp24 T A 4: 106,236,276 (GRCm39) I988K probably damaging Het
Vmn2r74 T A 7: 85,606,279 (GRCm39) R356* probably null Het
Wdr37 A T 13: 8,869,971 (GRCm39) H429Q probably damaging Het
Wwc2 A T 8: 48,333,185 (GRCm39) L277Q probably damaging Het
Zscan12 T A 13: 21,552,756 (GRCm39) N193K possibly damaging Het
Other mutations in Cps1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGCAGTTCACAGCATCCTAGG -3'
(R):5'- TCATTTAGCTCAACTGAGGCAG -3'

Sequencing Primer
(F):5'- CACAGCATCCTAGGTTGATTTCAAGG -3'
(R):5'- TCAACTGAGGCAGACCCTTG -3'
Posted On 2019-10-17