Incidental Mutation 'R1481:Cps1'
ID 164343
Institutional Source Beutler Lab
Gene Symbol Cps1
Ensembl Gene ENSMUSG00000025991
Gene Name carbamoyl-phosphate synthetase 1
Synonyms CPS, 4732433M03Rik, D1Ucla3, CPSase I
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 67162185-67270418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67183041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 133 (V133A)
Ref Sequence ENSEMBL: ENSMUSP00000027144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027144]
AlphaFold Q8C196
Predicted Effect probably damaging
Transcript: ENSMUST00000027144
AA Change: V133A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: V133A

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 0.8162 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 A G 6: 43,251,568 (GRCm39) H773R probably damaging Het
Bltp1 T C 3: 37,062,583 (GRCm39) V3365A probably damaging Het
Bmp3 G A 5: 99,020,329 (GRCm39) V251M probably damaging Het
Ccdc175 C A 12: 72,148,722 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,238,678 (GRCm39) G313D probably benign Het
Cd300ld2 T A 11: 114,903,459 (GRCm39) I129F probably benign Het
Cep170 T C 1: 176,609,951 (GRCm39) Q120R possibly damaging Het
Ckb T C 12: 111,637,696 (GRCm39) H145R probably benign Het
Cntnap5a T A 1: 116,045,393 (GRCm39) N336K probably damaging Het
Coil T A 11: 88,864,886 (GRCm39) C38S possibly damaging Het
Cspg4 A G 9: 56,795,094 (GRCm39) E943G probably damaging Het
Cyp2c54 C T 19: 40,036,032 (GRCm39) D293N probably benign Het
Cyp2f2 T C 7: 26,821,302 (GRCm39) S72P probably benign Het
Dip2c G A 13: 9,601,902 (GRCm39) probably null Het
Dock6 T C 9: 21,731,918 (GRCm39) T1158A probably benign Het
Dscaml1 G A 9: 45,583,941 (GRCm39) V469I probably benign Het
Efcab14 A G 4: 115,613,714 (GRCm39) T221A probably benign Het
Ehbp1 T C 11: 21,956,782 (GRCm39) *1207W probably null Het
Eln T C 5: 134,735,426 (GRCm39) K786E probably damaging Het
Fyb1 C T 15: 6,649,128 (GRCm39) P385S probably benign Het
Galr1 A G 18: 82,423,866 (GRCm39) I137T possibly damaging Het
Gcm1 A T 9: 77,966,999 (GRCm39) K73* probably null Het
Gemin5 T C 11: 58,032,480 (GRCm39) N775D probably damaging Het
Gli3 C T 13: 15,788,435 (GRCm39) H147Y probably damaging Het
Gm10754 G T 10: 97,518,089 (GRCm39) probably benign Het
Gpr37 T C 6: 25,669,137 (GRCm39) D569G probably damaging Het
Grina T A 15: 76,133,289 (GRCm39) Y286N probably damaging Het
Gtf3c1 C A 7: 125,292,310 (GRCm39) probably null Het
Kcnc4 C T 3: 107,355,534 (GRCm39) V305M probably benign Het
Kntc1 T C 5: 123,916,338 (GRCm39) F724L probably benign Het
Kpnb1 T C 11: 97,069,136 (GRCm39) Y249C probably damaging Het
Krt6b T C 15: 101,586,809 (GRCm39) T269A probably benign Het
Lamc1 T C 1: 153,097,380 (GRCm39) K1555E probably damaging Het
Maneal T C 4: 124,755,650 (GRCm39) Y104C probably damaging Het
Map1b T C 13: 99,567,679 (GRCm39) T1681A unknown Het
Mettl17 T C 14: 52,128,160 (GRCm39) L272P probably benign Het
Mib2 T A 4: 155,741,456 (GRCm39) S357C probably benign Het
Mmp19 C A 10: 128,634,047 (GRCm39) T316K possibly damaging Het
Mroh9 C T 1: 162,854,078 (GRCm39) G774E probably damaging Het
Myh1 T C 11: 67,096,325 (GRCm39) probably benign Het
Ncor2 C A 5: 125,104,202 (GRCm39) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm39) T51S probably benign Het
Nsun3 A T 16: 62,555,732 (GRCm39) C265S probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nutm2 T A 13: 50,623,517 (GRCm39) N71K probably damaging Het
Or10a5 T G 7: 106,635,356 (GRCm39) L5R probably benign Het
Or5p73 C T 7: 108,065,167 (GRCm39) T212I probably benign Het
Orc3 T A 4: 34,607,228 (GRCm39) E34V possibly damaging Het
Pcdhb13 T A 18: 37,575,889 (GRCm39) L89Q probably damaging Het
Polr3a A T 14: 24,502,616 (GRCm39) V1241E probably null Het
Prpf39 C T 12: 65,100,088 (GRCm39) P135S probably damaging Het
Psrc1 T C 3: 108,292,309 (GRCm39) V34A probably benign Het
Rab27a G A 9: 72,989,684 (GRCm39) V52M probably benign Het
Rassf9 A G 10: 102,381,895 (GRCm39) T424A probably benign Het
Ripor3 G T 2: 167,842,297 (GRCm39) R61S possibly damaging Het
Ryr3 C T 2: 112,466,867 (GRCm39) probably benign Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Setbp1 C T 18: 78,826,516 (GRCm39) V1366M probably benign Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Tctn2 T C 5: 124,745,826 (GRCm39) noncoding transcript Het
Tmem45a A T 16: 56,631,965 (GRCm39) F218I possibly damaging Het
Tpte A T 8: 22,845,487 (GRCm39) R512S probably damaging Het
Trim37 T A 11: 87,020,585 (GRCm39) L22* probably null Het
Ttc6 A G 12: 57,783,916 (GRCm39) N1792D probably damaging Het
Ttn A G 2: 76,775,960 (GRCm39) M1694T probably damaging Het
Vmn1r181 T A 7: 23,684,137 (GRCm39) W201R probably damaging Het
Wdr74 C T 19: 8,715,592 (GRCm39) L198F possibly damaging Het
Zfp560 T C 9: 20,260,086 (GRCm39) T259A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCCTGCAAGGCAAACTCACTTTC -3'
(R):5'- GACTATGTGCCCTACACACAGAGC -3'

Sequencing Primer
(F):5'- CTCACTTTCCAAAAGTAGCATTAAGG -3'
(R):5'- GCGCCATCTAGTGGATAAACTG -3'
Posted On 2014-03-28