Incidental Mutation 'R4900:Cps1'
ID 376058
Institutional Source Beutler Lab
Gene Symbol Cps1
Ensembl Gene ENSMUSG00000025991
Gene Name carbamoyl-phosphate synthetase 1
Synonyms CPS, 4732433M03Rik, D1Ucla3, CPSase I
MMRRC Submission 042504-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4900 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 67162185-67270418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67200063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 404 (T404S)
Ref Sequence ENSEMBL: ENSMUSP00000027144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027144]
AlphaFold Q8C196
Predicted Effect probably damaging
Transcript: ENSMUST00000027144
AA Change: T404S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: T404S

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
Meta Mutation Damage Score 0.1642 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (84/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
Abtb2 A G 2: 103,397,349 (GRCm39) E93G possibly damaging Het
Adam5 A C 8: 25,232,172 (GRCm39) probably null Het
Adam5 G A 8: 25,271,619 (GRCm39) T596I probably damaging Het
Adgrb2 T A 4: 129,907,668 (GRCm39) Y1001N probably damaging Het
Aox1 T G 1: 58,344,544 (GRCm39) S546A probably benign Het
Asic2 T C 11: 81,464,280 (GRCm39) probably benign Het
Bcl11b T A 12: 107,955,957 (GRCm39) N64I probably damaging Het
Cacna1g A G 11: 94,350,177 (GRCm39) F556S possibly damaging Het
Cbl A G 9: 44,064,166 (GRCm39) V790A probably benign Het
Cd300c2 A T 11: 114,891,807 (GRCm39) C22* probably null Het
Cdh11 C T 8: 103,374,090 (GRCm39) probably null Het
Ces2g C T 8: 105,693,989 (GRCm39) Q442* probably null Het
Csf2rb2 A T 15: 78,170,174 (GRCm39) probably null Het
Csmd2 A G 4: 128,346,318 (GRCm39) Y1526C probably benign Het
Cyp2a12 C T 7: 26,730,640 (GRCm39) Q202* probably null Het
Cyp2c39 G A 19: 39,502,020 (GRCm39) M136I probably benign Het
Cyp2j13 G A 4: 95,947,280 (GRCm39) T257I probably damaging Het
Dnah8 T A 17: 30,965,949 (GRCm39) L2427Q probably damaging Het
Dop1b G T 16: 93,560,318 (GRCm39) probably null Het
Entrep1 A G 19: 23,952,790 (GRCm39) S507P possibly damaging Het
Epcam T C 17: 87,951,049 (GRCm39) V212A possibly damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Flvcr2 T A 12: 85,829,756 (GRCm39) V255D probably damaging Het
Galc G T 12: 98,197,731 (GRCm39) T326K probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gen1 A T 12: 11,291,561 (GRCm39) Y808N probably benign Het
Glis1 C T 4: 107,476,761 (GRCm39) A306V probably damaging Het
Gm10638 A G 8: 87,473,028 (GRCm39) probably benign Het
Gm12789 G A 4: 101,846,182 (GRCm39) probably benign Het
Gm27048 C T 8: 81,661,228 (GRCm39) noncoding transcript Het
Gm4204 T C 1: 135,160,556 (GRCm39) noncoding transcript Het
Gm904 A T 13: 50,799,325 (GRCm39) I95F possibly damaging Het
Gvin3 T G 7: 106,197,793 (GRCm39) noncoding transcript Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ints11 G A 4: 155,972,887 (GRCm39) D526N probably benign Het
Itfg2 A G 6: 128,393,279 (GRCm39) probably benign Het
Jund T C 8: 71,152,254 (GRCm39) V183A probably damaging Het
Kcnj8 A G 6: 142,512,221 (GRCm39) S129P probably damaging Het
Kcnq3 A G 15: 65,867,259 (GRCm39) S795P probably damaging Het
Lhx8 G T 3: 154,035,925 (GRCm39) A22E probably benign Het
Lrp8 A G 4: 107,664,006 (GRCm39) probably benign Het
Lvrn G T 18: 47,026,768 (GRCm39) A789S probably damaging Het
Lvrn T C 18: 47,014,479 (GRCm39) S526P probably damaging Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Mroh8 T C 2: 157,070,647 (GRCm39) E568G probably benign Het
Ms4a4b C A 19: 11,440,503 (GRCm39) probably benign Het
Muc2 T C 7: 141,303,280 (GRCm39) F99S probably benign Het
Myo5c T A 9: 75,180,825 (GRCm39) I738N probably damaging Het
Naip6 A C 13: 100,433,477 (GRCm39) V1120G probably damaging Het
Ncl T C 1: 86,283,901 (GRCm39) T307A probably benign Het
Npr1 A T 3: 90,363,272 (GRCm39) D869E possibly damaging Het
Nup93 A G 8: 95,013,231 (GRCm39) T36A probably benign Het
Olfml2b C A 1: 170,489,947 (GRCm39) T189N probably damaging Het
Or4c12b A G 2: 89,647,312 (GRCm39) N208S possibly damaging Het
Or8b9 T C 9: 37,766,608 (GRCm39) F165L probably benign Het
P4htm A C 9: 108,456,427 (GRCm39) W458G probably damaging Het
Pdzrn4 G T 15: 92,668,638 (GRCm39) R930L probably damaging Het
Pgam5 G A 5: 110,408,301 (GRCm39) A240V probably damaging Het
Prex2 T C 1: 11,220,129 (GRCm39) probably benign Het
Ptpru T G 4: 131,515,693 (GRCm39) E897A probably damaging Het
Rapgef2 A T 3: 78,981,670 (GRCm39) N1256K probably benign Het
Rhbdl3 A G 11: 80,210,439 (GRCm39) E64G probably benign Het
Sel1l3 A T 5: 53,289,184 (GRCm39) L879Q probably damaging Het
Siah1a G T 8: 87,451,703 (GRCm39) D260E probably benign Het
Skint6 T C 4: 112,924,667 (GRCm39) I522V probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Smok3c T C 5: 138,062,813 (GRCm39) I100T probably damaging Het
Snx24 C A 18: 53,518,295 (GRCm39) Y141* probably null Het
Tigit A G 16: 43,469,594 (GRCm39) S166P probably damaging Het
Tmem183a C T 1: 134,275,904 (GRCm39) R324Q probably benign Het
Tmie T C 9: 110,696,001 (GRCm39) D130G possibly damaging Het
Uggt1 G A 1: 36,241,936 (GRCm39) R333* probably null Het
Vmn2r111 T C 17: 22,767,637 (GRCm39) N620S possibly damaging Het
Vmn2r12 T A 5: 109,240,852 (GRCm39) N87I probably damaging Het
Vmn2r92 A G 17: 18,404,605 (GRCm39) D583G probably benign Het
Zdhhc17 T C 10: 110,821,819 (GRCm39) D60G 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
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'- GTTACTGGAGCAAACTCAAAATCC -3'
(R):5'- TGTAAACGCCAATGACTTACCAAG -3'

Sequencing Primer
(F):5'- TGGAGCAAACTCAAAATCCAAACTAC -3'
(R):5'- GTGAGAGAATATGTGACTCACA -3'
Posted On 2016-03-17