Incidental Mutation 'R2112:Cps1'
ID 232613
Institutional Source Beutler Lab
Gene Symbol Cps1
Ensembl Gene ENSMUSG00000025991
Gene Name carbamoyl-phosphate synthetase 1
Synonyms CPS, 4732433M03Rik, D1Ucla3, CPSase I
MMRRC Submission 040116-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2112 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 67162185-67270418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67216139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 821 (D821E)
Ref Sequence ENSEMBL: ENSMUSP00000027144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027144]
AlphaFold Q8C196
Predicted Effect probably benign
Transcript: ENSMUST00000027144
AA Change: D821E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: D821E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Adprhl1 A G 8: 13,298,694 (GRCm39) Y79H probably damaging Het
Ambra1 T A 2: 91,706,132 (GRCm39) W746R probably damaging Het
Ankhd1 A T 18: 36,774,679 (GRCm39) K1420I probably damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Arhgap24 A C 5: 103,040,366 (GRCm39) R434S probably damaging Het
Arhgap29 T C 3: 121,805,210 (GRCm39) L525P probably benign Het
Arpc1b T C 5: 145,060,579 (GRCm39) Y124H probably damaging Het
Arr3 T A X: 99,658,247 (GRCm39) F269L possibly damaging Het
Atp11b G T 3: 35,891,677 (GRCm39) V830F probably damaging Het
Ccdc71l T A 12: 32,429,229 (GRCm39) F83I probably damaging Het
Cdh23 G T 10: 60,141,362 (GRCm39) F3127L probably damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cldn15 T A 5: 136,997,016 (GRCm39) M19K possibly damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col12a1 A G 9: 79,551,181 (GRCm39) V2145A possibly damaging Het
Col5a3 T C 9: 20,721,073 (GRCm39) I110V unknown Het
Crnkl1 A T 2: 145,772,617 (GRCm39) Y153* probably null Het
Dock10 T A 1: 80,483,359 (GRCm39) K2082M probably damaging Het
Dock10 T C 1: 80,483,360 (GRCm39) K2083E probably damaging Het
Dst T C 1: 34,208,259 (GRCm39) S737P probably damaging Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Etf1 A T 18: 35,042,154 (GRCm39) probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galt A G 4: 41,758,245 (GRCm39) T337A probably benign Het
Gbp4 A G 5: 105,283,042 (GRCm39) L76P possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gigyf2 A G 1: 87,368,452 (GRCm39) H1044R probably damaging Het
Glg1 T C 8: 111,919,178 (GRCm39) D315G probably damaging Het
Gm4787 C T 12: 81,424,607 (GRCm39) C517Y probably damaging Het
Gnl3l A G X: 149,780,290 (GRCm39) S217P probably damaging Het
Gpr37 T C 6: 25,669,380 (GRCm39) Y488C possibly damaging Het
Hap1 T C 11: 100,244,825 (GRCm39) D240G probably benign Het
Hhla1 C G 15: 65,808,232 (GRCm39) W271S probably benign Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Inpp5a A G 7: 139,154,877 (GRCm39) D332G probably damaging Het
Insr A G 8: 3,219,748 (GRCm39) S925P probably benign Het
Isoc2b T A 7: 4,852,474 (GRCm39) D171V probably damaging Het
Kif20b T C 19: 34,909,132 (GRCm39) I223T probably benign Het
Krt6b T C 15: 101,586,999 (GRCm39) T258A possibly damaging Het
Lipo4 G A 19: 33,488,926 (GRCm39) P219L probably benign Het
Luc7l T C 17: 26,474,101 (GRCm39) probably null Het
Madd T C 2: 91,007,321 (GRCm39) K264E possibly damaging Het
Mcf2l A T 8: 13,051,867 (GRCm39) K433N probably damaging Het
Mob3b A T 4: 35,083,795 (GRCm39) N131K probably damaging Het
Mtus1 G T 8: 41,475,608 (GRCm39) P819T probably damaging Het
Myo15a T C 11: 60,384,994 (GRCm39) F1699L probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Neb G C 2: 52,218,776 (GRCm39) T78S probably damaging Het
Nek2 T C 1: 191,559,320 (GRCm39) V275A probably benign Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nos1 T C 5: 118,074,636 (GRCm39) V1060A probably benign Het
Notch3 T A 17: 32,363,584 (GRCm39) I1160F probably benign Het
Nox4 T C 7: 87,021,216 (GRCm39) L476P probably damaging Het
Npc1 A T 18: 12,346,529 (GRCm39) N222K possibly damaging Het
Nrn1l C A 8: 106,621,378 (GRCm39) H109Q possibly damaging Het
Or4c11 T C 2: 88,695,545 (GRCm39) S199P possibly damaging Het
Or4k15 G T 14: 50,364,080 (GRCm39) L15F probably damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or7a41 T C 10: 78,871,248 (GRCm39) L206P probably damaging Het
Or8g27 T C 9: 39,129,075 (GRCm39) Y141H probably benign Het
Or8g33 C A 9: 39,337,966 (GRCm39) V134L probably benign Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Plch1 T A 3: 63,630,227 (GRCm39) T514S probably damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Ppig A G 2: 69,580,451 (GRCm39) T662A unknown Het
Prdm2 A C 4: 142,858,506 (GRCm39) S1595A probably benign Het
Ptpn5 T A 7: 46,732,890 (GRCm39) T318S probably benign Het
Ralgps2 A G 1: 156,660,278 (GRCm39) Y265H probably damaging Het
Seh1l T C 18: 67,920,249 (GRCm39) I182T probably damaging Het
Slc12a6 T C 2: 112,186,830 (GRCm39) I943T probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Sphkap T G 1: 83,253,602 (GRCm39) K1382N probably benign Het
Sybu T C 15: 44,536,731 (GRCm39) S532G probably benign Het
Syde2 G A 3: 145,704,241 (GRCm39) G131S possibly damaging Het
Taok1 C T 11: 77,462,472 (GRCm39) V206I probably benign Het
Tas1r2 G T 4: 139,382,666 (GRCm39) M101I probably benign Het
Trpc6 C T 9: 8,656,613 (GRCm39) T680I probably damaging Het
Trub1 T C 19: 57,473,646 (GRCm39) probably null Het
Tspan1 G T 4: 116,020,885 (GRCm39) probably null Het
Ttc28 G A 5: 111,424,139 (GRCm39) E1438K probably damaging Het
Ubr3 A G 2: 69,808,136 (GRCm39) T1206A possibly damaging Het
Ulbp3 C T 10: 3,076,459 (GRCm39) noncoding transcript Het
Usp40 A G 1: 87,877,936 (GRCm39) I1117T probably benign Het
Usp43 G T 11: 67,812,536 (GRCm39) N113K probably damaging Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r202 T A 13: 22,685,904 (GRCm39) Y171F possibly damaging Het
Zfp142 A G 1: 74,612,795 (GRCm39) S451P probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y probably damaging Het
Zfp954 A G 7: 7,118,609 (GRCm39) C312R probably damaging Het
Zmym3 A T X: 100,450,993 (GRCm39) V1208D 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
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
Predicted Primers PCR Primer
(F):5'- CTAGGGAACAGAAGCTCAAAATCTG -3'
(R):5'- AGGCACCTCGAAAACACTGG -3'

Sequencing Primer
(F):5'- ACTCTCAGAATCTTTTTGCAGTAGTC -3'
(R):5'- CCTCGAAAACACTGGGCTGTTTG -3'
Posted On 2014-09-18