Incidental Mutation 'R0109:Cps1'
ID 17790
Institutional Source Beutler Lab
Gene Symbol Cps1
Ensembl Gene ENSMUSG00000025991
Gene Name carbamoyl-phosphate synthetase 1
Synonyms CPS, 4732433M03Rik, D1Ucla3, CPSase I
MMRRC Submission 038395-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0109 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 67162185-67270418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67268577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1435 (V1435A)
Ref Sequence ENSEMBL: ENSMUSP00000027144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027144]
AlphaFold Q8C196
Predicted Effect possibly damaging
Transcript: ENSMUST00000027144
AA Change: V1435A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: V1435A

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 0.1549 question?
Coding Region Coverage
  • 1x: 90.6%
  • 3x: 88.5%
  • 10x: 83.8%
  • 20x: 77.5%
Validation Efficiency 90% (95/106)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,636,262 (GRCm39) H710Q probably benign Het
Abca14 A T 7: 119,917,985 (GRCm39) K1496* probably null Het
Anapc1 C A 2: 128,476,613 (GRCm39) R1335L probably damaging Het
Arhgef10l A T 4: 140,305,605 (GRCm39) S203T probably benign Het
Astn1 C T 1: 158,491,674 (GRCm39) T41I possibly damaging Het
Atrnl1 T A 19: 57,743,949 (GRCm39) Y1184N possibly damaging Het
Avil A G 10: 126,849,513 (GRCm39) N603S probably benign Het
Brca1 T C 11: 101,421,916 (GRCm39) D149G possibly damaging Het
Car14 C A 3: 95,806,763 (GRCm39) A234S probably benign Het
Cep164 A C 9: 45,682,885 (GRCm39) L935R probably damaging Het
Csmd2 T G 4: 128,438,536 (GRCm39) S3038R probably benign Het
Cyp2j6 A T 4: 96,406,394 (GRCm39) I459N probably damaging Het
Cyth1 T C 11: 118,073,132 (GRCm39) E242G probably damaging Het
Dclk3 T G 9: 111,296,738 (GRCm39) L94R possibly damaging Het
Disp2 T C 2: 118,622,297 (GRCm39) S1010P probably damaging Het
Dlec1 G A 9: 118,934,892 (GRCm39) R145H probably damaging Het
Dsg3 T C 18: 20,673,191 (GRCm39) V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 (GRCm39) D309V probably damaging Het
Fam13b A G 18: 34,584,361 (GRCm39) I601T probably benign Het
Fgd5 T A 6: 91,965,216 (GRCm39) M325K possibly damaging Het
Frmpd1 A T 4: 45,279,340 (GRCm39) E688D probably benign Het
Gabrb1 C T 5: 72,279,289 (GRCm39) probably benign Het
Gm6590 A T 6: 130,461,869 (GRCm39) noncoding transcript Het
Gse1 T A 8: 121,294,524 (GRCm39) S284T probably damaging Het
Ipo13 C T 4: 117,762,213 (GRCm39) R387Q possibly damaging Het
Kctd16 A G 18: 40,392,204 (GRCm39) E264G probably benign Het
Krt73 A T 15: 101,704,830 (GRCm39) L352* probably null Het
Mapk15 A T 15: 75,867,926 (GRCm39) K153* probably null Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mcoln2 C G 3: 145,881,473 (GRCm39) R210G probably damaging Het
Miox G A 15: 89,219,784 (GRCm39) V91I probably benign Het
Myh7b A G 2: 155,453,594 (GRCm39) E6G possibly damaging Het
Ncapg A G 5: 45,851,090 (GRCm39) probably null Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Or4a69 A G 2: 89,313,147 (GRCm39) F111L probably benign Het
Or52d1 T C 7: 103,755,812 (GRCm39) S109P probably damaging Het
Or5b94 C A 19: 12,652,224 (GRCm39) F218L probably benign Het
Osbp2 A C 11: 3,661,791 (GRCm39) S754A probably benign Het
Pard3 C T 8: 128,125,147 (GRCm39) R712C probably damaging Het
Parp9 T C 16: 35,768,711 (GRCm39) I64T probably damaging Het
Pcm1 T A 8: 41,710,974 (GRCm39) H81Q possibly damaging Het
Pcnt G A 10: 76,225,030 (GRCm39) P1825S probably benign Het
Pfkfb4 T C 9: 108,827,957 (GRCm39) V43A probably benign Het
Pgap1 A T 1: 54,533,984 (GRCm39) V643E probably damaging Het
Pip5k1a T C 3: 94,972,753 (GRCm39) T433A probably benign Het
Pip5k1b T A 19: 24,356,411 (GRCm39) M176L probably benign Het
Polg2 T C 11: 106,667,958 (GRCm39) probably benign Het
Pomp T A 5: 147,812,323 (GRCm39) H136Q probably benign Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Prdx2 G A 8: 85,696,880 (GRCm39) G4S probably benign Het
Rbm28 C T 6: 29,160,104 (GRCm39) G70D probably benign Het
Rdh10 T A 1: 16,176,489 (GRCm39) I83N probably damaging Het
Rin3 A G 12: 102,279,340 (GRCm39) I50V possibly damaging Het
Rnf122 T C 8: 31,614,877 (GRCm39) probably benign Het
Sik2 A G 9: 50,810,775 (GRCm39) M447T possibly damaging Het
Sla2 A G 2: 156,725,507 (GRCm39) probably null Het
Slc51a T A 16: 32,296,425 (GRCm39) I192L probably benign Het
Sorcs1 T C 19: 50,367,329 (GRCm39) probably benign Het
Spata16 T A 3: 26,967,416 (GRCm39) F389I probably damaging Het
Srebf1 G A 11: 60,092,630 (GRCm39) A793V probably benign Het
Tbc1d9b T C 11: 50,049,261 (GRCm39) V736A probably benign Het
Tbx15 C A 3: 99,259,182 (GRCm39) T351N possibly damaging Het
Tep1 A G 14: 51,089,373 (GRCm39) probably null Het
Tmed11 T A 5: 108,925,278 (GRCm39) D178V probably damaging Het
Traf7 A G 17: 24,732,900 (GRCm39) F110L probably benign Het
Ubqlnl C T 7: 103,799,399 (GRCm39) V33M probably damaging Het
Vcan A T 13: 89,826,192 (GRCm39) probably null Het
Vmn1r194 A G 13: 22,429,217 (GRCm39) Y278C probably damaging Het
Vmn1r46 T C 6: 89,954,044 (GRCm39) F298L probably benign Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Wdr48 G A 9: 119,747,634 (GRCm39) probably benign Het
Wwp1 G A 4: 19,641,725 (GRCm39) probably benign Het
Zfp1001 A T 2: 150,165,761 (GRCm39) probably benign Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp839 G A 12: 110,827,308 (GRCm39) E400K 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
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
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
Posted On 2013-01-31