Incidental Mutation 'R7485:Cps1'
ID 580035
Institutional Source Beutler Lab
Gene Symbol Cps1
Ensembl Gene ENSMUSG00000025991
Gene Name carbamoyl-phosphate synthetase 1
Synonyms CPS, 4732433M03Rik, D1Ucla3, CPSase I
MMRRC Submission 045559-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7485 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 67162185-67270418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67179016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 76 (G76D)
Ref Sequence ENSEMBL: ENSMUSP00000027144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027144]
AlphaFold Q8C196
Predicted Effect probably damaging
Transcript: ENSMUST00000027144
AA Change: G76D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: G76D

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (99/100)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 C T 10: 80,442,234 (GRCm39) A24V probably benign Het
Agbl1 A T 7: 76,239,241 (GRCm39) E832D unknown Het
Akap8l G A 17: 32,554,545 (GRCm39) S347L probably benign Het
Ankmy1 G T 1: 92,804,379 (GRCm39) A868E probably damaging Het
Ankrd49 A T 9: 14,693,837 (GRCm39) L110* probably null Het
Aoc3 A G 11: 101,228,229 (GRCm39) T679A probably damaging Het
Ap1s3 A G 1: 79,592,018 (GRCm39) Y111H probably damaging Het
Arnt T A 3: 95,402,659 (GRCm39) N777K probably damaging Het
Atp4b A T 8: 13,436,732 (GRCm39) M260K probably benign Het
Bcl2l15 A T 3: 103,740,729 (GRCm39) D65V probably damaging Het
Bicdl1 G T 5: 115,801,845 (GRCm39) S340* probably null Het
Ccdc15 T C 9: 37,226,574 (GRCm39) R467G probably benign Het
Ccdc68 T A 18: 70,102,084 (GRCm39) M327K possibly damaging Het
Ccdc83 T C 7: 89,873,138 (GRCm39) T406A probably benign Het
Ccnf A T 17: 24,468,232 (GRCm39) V55D probably damaging Het
Cdcp3 C A 7: 130,830,562 (GRCm39) P332Q probably damaging Het
Cldn12 A G 5: 5,558,008 (GRCm39) F140L probably benign Het
Copb1 A C 7: 113,844,720 (GRCm39) I213S possibly damaging Het
Ctrc A G 4: 141,567,627 (GRCm39) W159R probably damaging Het
Cul4a C T 8: 13,190,279 (GRCm39) T572M possibly damaging Het
Cyp2c40 A T 19: 39,796,050 (GRCm39) Y109* probably null Het
Dcc A G 18: 71,553,317 (GRCm39) Y780H probably benign Het
Dctn1 C T 6: 83,166,887 (GRCm39) A283V possibly damaging Het
Dio1 T C 4: 107,154,874 (GRCm39) D134G probably benign Het
Dlg5 A T 14: 24,227,907 (GRCm39) L338Q probably damaging Het
Dlg5 A T 14: 24,198,390 (GRCm39) D1514E probably benign Het
Dlgap2 A T 8: 14,879,952 (GRCm39) K767N probably damaging Het
Dst A T 1: 34,313,270 (GRCm39) I4346F probably benign Het
Dzip1l T C 9: 99,543,065 (GRCm39) F507L probably benign Het
Erich2 A T 2: 70,362,109 (GRCm39) D300V probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam131a C T 16: 20,520,444 (GRCm39) A299V probably benign Het
Fbln2 A G 6: 91,247,143 (GRCm39) probably null Het
Fbn2 T C 18: 58,204,912 (GRCm39) D1177G possibly damaging Het
Fbxl6 T C 15: 76,422,113 (GRCm39) probably null Het
Frem3 A T 8: 81,339,965 (GRCm39) I753F probably damaging Het
Gfra1 A G 19: 58,288,744 (GRCm39) S234P probably damaging Het
Gtse1 T A 15: 85,752,901 (GRCm39) S339T probably benign Het
Hdgfl3 T C 7: 81,550,106 (GRCm39) N76S probably benign Het
Herc6 A G 6: 57,558,089 (GRCm39) E23G probably benign Het
Hid1 T A 11: 115,245,545 (GRCm39) H420L probably damaging Het
Igsf21 G A 4: 139,755,049 (GRCm39) T440I probably benign Het
Ikzf4 T A 10: 128,468,451 (GRCm39) H676L unknown Het
Il18r1 A G 1: 40,520,140 (GRCm39) E177G probably benign Het
Iqch A G 9: 63,415,599 (GRCm39) Y558H possibly damaging Het
Kif11 A T 19: 37,399,072 (GRCm39) N752I possibly damaging Het
Kntc1 T A 5: 123,925,019 (GRCm39) C1111S possibly damaging Het
Krtap9-5 A G 11: 99,839,800 (GRCm39) K167R unknown Het
Lgalsl2 C T 7: 5,362,440 (GRCm39) R24C probably benign Het
Lipe G T 7: 25,080,036 (GRCm39) T704K probably benign Het
Lrrc32 A T 7: 98,147,414 (GRCm39) I65F possibly damaging Het
Mogs C T 6: 83,093,188 (GRCm39) H179Y probably damaging Het
Mtnr1b A T 9: 15,774,590 (GRCm39) Y156* probably null Het
Mtus1 T C 8: 41,537,590 (GRCm39) H42R probably benign Het
Mx2 T A 16: 97,346,918 (GRCm39) D128E probably benign Het
Myof A T 19: 37,939,939 (GRCm39) L829* probably null Het
Naip6 T C 13: 100,420,359 (GRCm39) K1304E probably benign Het
Neo1 A C 9: 58,791,826 (GRCm39) S1307R probably benign Het
Nipbl A T 15: 8,359,779 (GRCm39) D1475E probably benign Het
Nlrp9b T A 7: 19,757,875 (GRCm39) F371I probably damaging Het
Nrip1 A T 16: 76,088,338 (GRCm39) M1073K probably damaging Het
Obox6 T C 7: 15,567,863 (GRCm39) N195D probably damaging Het
Or13a18 T A 7: 140,190,091 (GRCm39) I4K probably benign Het
Or1j18 T A 2: 36,624,650 (GRCm39) F106I probably benign Het
Or5ac24 A T 16: 59,165,687 (GRCm39) C126S probably damaging Het
Or5b99 C T 19: 12,976,922 (GRCm39) H191Y probably benign Het
Or5p64 C A 7: 107,855,045 (GRCm39) C100F probably damaging Het
Pax7 T C 4: 139,511,880 (GRCm39) K232E probably benign Het
Phldb3 C T 7: 24,310,689 (GRCm39) probably benign Het
Pkd1l1 C A 11: 8,915,148 (GRCm39) V131L Het
Ppp2r5a A G 1: 191,128,532 (GRCm39) S28P probably benign Het
Prl8a1 A G 13: 27,758,068 (GRCm39) S214P probably damaging Het
Prmt2 A T 10: 76,056,838 (GRCm39) C228* probably null Het
Prpf8 C T 11: 75,399,738 (GRCm39) R2266* probably null Het
Rabl6 A G 2: 25,474,153 (GRCm39) S648P unknown Het
Ralgapa1 T C 12: 55,759,457 (GRCm39) K1022R probably damaging Het
Ralgapb T A 2: 158,285,275 (GRCm39) D591E probably benign Het
Rprd1a A G 18: 24,639,889 (GRCm39) probably null Het
Rsu1 T C 2: 13,221,686 (GRCm39) R165G probably damaging Het
Samd8 A G 14: 21,842,491 (GRCm39) E334G probably benign Het
Scn9a T A 2: 66,364,561 (GRCm39) Q804L probably damaging Het
Sez6 A G 11: 77,864,711 (GRCm39) D557G probably benign Het
Sgsm1 A T 5: 113,427,501 (GRCm39) probably null Het
Slc17a3 T A 13: 24,039,832 (GRCm39) M290K Het
Snd1 T A 6: 28,531,449 (GRCm39) V330E probably benign Het
Tceanc2 T C 4: 107,022,852 (GRCm39) K45R probably damaging Het
Tg A T 15: 66,568,437 (GRCm39) I1375F probably benign Het
Tmem116 T A 5: 121,633,124 (GRCm39) I357K Het
Tmem39a G T 16: 38,408,658 (GRCm39) R407L possibly damaging Het
Tmem74 A T 15: 43,730,761 (GRCm39) M94K probably benign Het
Tpp1 C T 7: 105,398,751 (GRCm39) C226Y probably damaging Het
Trbv21 T C 6: 41,179,861 (GRCm39) I59T not run Het
Trim11 A G 11: 58,869,463 (GRCm39) D133G probably benign Het
Uaca G A 9: 60,753,282 (GRCm39) V76I probably damaging Het
Ugt2a3 A G 5: 87,475,539 (GRCm39) probably null Het
Vmn2r104 G T 17: 20,249,737 (GRCm39) H845N probably benign Het
Wdr24 T C 17: 26,045,101 (GRCm39) Y279H probably damaging Het
Zbtb46 A G 2: 181,065,512 (GRCm39) S213P probably benign Het
Zdhhc13 C A 7: 48,461,103 (GRCm39) Y346* probably null Het
Zfp280b A T 10: 75,875,075 (GRCm39) H318L probably 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
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'- GGGATGGTTTCAGTAAATCTGC -3'
(R):5'- GCATACATCTATACCTGCTGGC -3'

Sequencing Primer
(F):5'- GATGGTTTCAGTAAATCTGCTGTAC -3'
(R):5'- GCCAGGCTGGTACCGTAG -3'
Posted On 2019-10-07