Incidental Mutation 'RF012:Cad'
ID 603263
Institutional Source Beutler Lab
Gene Symbol Cad
Ensembl Gene ENSMUSG00000013629
Gene Name carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Synonyms 2410008J01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # RF012 (G1)
Quality Score 150.457
Status Validated
Chromosome 5
Chromosomal Location 31212124-31235823 bp(+) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) GT to G at 31217556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000013773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013773] [ENSMUST00000200953] [ENSMUST00000201182] [ENSMUST00000201838] [ENSMUST00000202795]
AlphaFold B2RQC6
Predicted Effect probably benign
Transcript: ENSMUST00000013773
SMART Domains Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 4.7e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 1.2e-15 PFAM
Pfam:CPSase_L_D2 514 718 1.8e-85 PFAM
Pfam:ATP-grasp 522 690 1.5e-9 PFAM
Pfam:Dala_Dala_lig_C 527 687 2.2e-10 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
Pfam:ATP-grasp_4 1044 1223 1.8e-23 PFAM
Pfam:CPSase_L_D2 1047 1250 3.1e-28 PFAM
Pfam:Dala_Dala_lig_C 1054 1242 2.3e-7 PFAM
Pfam:ATP-grasp 1055 1222 2.1e-12 PFAM
MGS 1327 1428 1.35e-7 SMART
Pfam:Amidohydro_1 1462 1730 7.4e-12 PFAM
low complexity region 1820 1839 N/A INTRINSIC
low complexity region 1864 1880 N/A INTRINSIC
Pfam:OTCace_N 1924 2065 1.9e-44 PFAM
Pfam:OTCace 2071 2221 7.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200953
SMART Domains Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 4.5e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:CPSase_L_D2 514 616 1.5e-34 PFAM
Pfam:Dala_Dala_lig_C 527 625 2.4e-7 PFAM
Pfam:CPSase_L_D2 614 655 4.9e-15 PFAM
CPSase_L_D3 735 858 9.7e-59 SMART
Pfam:ATP-grasp_4 981 1160 1.7e-23 PFAM
Pfam:CPSase_L_D2 984 1187 3e-28 PFAM
Pfam:Dala_Dala_lig_C 991 1179 2.3e-7 PFAM
Pfam:ATP-grasp 992 1159 2.1e-12 PFAM
MGS 1264 1365 1.35e-7 SMART
Pfam:Amidohydro_1 1399 1667 7.1e-12 PFAM
low complexity region 1757 1776 N/A INTRINSIC
low complexity region 1801 1817 N/A INTRINSIC
Pfam:OTCace_N 1861 2002 1.8e-44 PFAM
Pfam:OTCace 2008 2158 7.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201182
SMART Domains Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 4.5e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 1.1e-15 PFAM
Pfam:CPSase_L_D2 514 718 1.7e-85 PFAM
Pfam:ATP-grasp 522 690 1.4e-9 PFAM
Pfam:Dala_Dala_lig_C 527 687 2.1e-10 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
Pfam:ATP-grasp_4 1044 1223 1.7e-23 PFAM
Pfam:CPSase_L_D2 1047 1250 3e-28 PFAM
Pfam:Dala_Dala_lig_C 1054 1242 2.3e-7 PFAM
Pfam:ATP-grasp 1055 1222 2.1e-12 PFAM
MGS 1327 1428 1.35e-7 SMART
Pfam:Amidohydro_1 1462 1730 7.1e-12 PFAM
low complexity region 1820 1839 N/A INTRINSIC
low complexity region 1864 1880 N/A INTRINSIC
Pfam:OTCace_N 1949 1994 1.4e-11 PFAM
Pfam:OTCace 2000 2150 7.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201838
SMART Domains Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 6.3e-48 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 1.9e-16 PFAM
Pfam:CPSase_L_D2 514 718 3.7e-86 PFAM
Pfam:ATP-grasp 522 690 2.5e-10 PFAM
Pfam:Dala_Dala_lig_C 526 687 4.2e-11 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
SCOP:d1a9xa3 935 964 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202795
SMART Domains Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 1.9e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 5.9e-16 PFAM
Pfam:CPSase_L_D2 514 718 1.2e-85 PFAM
Pfam:ATP-grasp 522 690 7.3e-10 PFAM
Pfam:Dala_Dala_lig_C 527 687 1.3e-10 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
Pfam:ATP-grasp_4 1044 1223 8.9e-24 PFAM
Pfam:CPSase_L_D2 1047 1250 2.1e-28 PFAM
Pfam:Dala_Dala_lig_C 1054 1242 1.3e-7 PFAM
Pfam:ATP-grasp 1055 1222 1.1e-12 PFAM
MGS 1327 1428 1.35e-7 SMART
Pfam:Amidohydro_1 1462 1730 2.5e-11 PFAM
low complexity region 1820 1839 N/A INTRINSIC
low complexity region 1864 1880 N/A INTRINSIC
Pfam:OTCace_N 1970 2004 4.6e-11 PFAM
Pfam:OTCace 2010 2160 9.9e-37 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 89% (56/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,453,552 (GRCm39) L123Q probably damaging Het
AI837181 GCG GCGTCG 19: 5,475,255 (GRCm39) probably benign Het
Akr1e1 T A 13: 4,645,125 (GRCm39) N242I probably damaging Het
Ankrd7 G C 6: 18,869,274 (GRCm39) E194Q possibly damaging Het
Ano3 A G 2: 110,527,868 (GRCm39) F517L possibly damaging Het
Arhgef4 CAAA C 1: 34,763,565 (GRCm39) probably benign Het
Arid1a AGACGACGA AGACGA 4: 133,480,131 (GRCm39) probably benign Het
Atp2c2 G T 8: 120,472,253 (GRCm39) A436S possibly damaging Het
BC004004 T A 17: 29,501,782 (GRCm39) V107E probably benign Het
Begain CGCCGC CGCCGCAGCCGC 12: 108,999,353 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,112,909 (GRCm39) T122S probably benign Het
Clic6 A G 16: 92,327,697 (GRCm39) S501G possibly damaging Het
Col6a3 A C 1: 90,738,282 (GRCm39) L1079R probably damaging Het
Coro2a T C 4: 46,542,336 (GRCm39) K346E probably damaging Het
Ctsf A G 19: 4,908,694 (GRCm39) N325D probably benign Het
Dchs2 A G 3: 83,262,375 (GRCm39) E2881G probably benign Het
Dnah14 A G 1: 181,455,463 (GRCm39) T863A probably damaging Het
Dnai2 A T 11: 114,641,242 (GRCm39) I356F probably damaging Het
Dusp4 ACGGCGGCGGCGGC ACGGCGGCGGC 8: 35,274,953 (GRCm39) probably benign Het
Efhb T C 17: 53,720,545 (GRCm39) N647D probably damaging Het
Efhd2 CCG CCGACGGCG 4: 141,602,079 (GRCm39) probably benign Het
Eif3i A G 4: 129,485,872 (GRCm39) Y318H probably damaging Het
Fbxl5 T C 5: 43,930,847 (GRCm39) H80R probably damaging Het
Gab3 TCT TCTGCT X: 74,043,626 (GRCm39) probably benign Het
Gne G T 4: 44,060,045 (GRCm39) A147D probably damaging Het
Gpi1 A T 7: 33,901,902 (GRCm39) H538Q probably damaging Het
Itih2 T C 2: 10,122,214 (GRCm39) H229R possibly damaging Het
Kdm7a A G 6: 39,183,447 (GRCm39) V41A probably damaging Het
Krtap28-10 GCCACA GCCACACCCACA 1: 83,019,857 (GRCm39) probably benign Het
Lipa A T 19: 34,486,498 (GRCm39) S141R probably damaging Het
Medag G T 5: 149,335,459 (GRCm39) C6F probably benign Het
Nefh GGCCTCT GGCCTCTCCTGGGGACTTTGCCTCT 11: 4,891,055 (GRCm39) probably benign Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,030 (GRCm39) probably benign Het
Nefh GACTTGGCCTCACCTGGG GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG 11: 4,891,032 (GRCm39) probably benign Het
Opa1 A G 16: 29,432,784 (GRCm39) I482M probably damaging Het
Or12e14 A T 2: 87,677,103 (GRCm39) I163L probably benign Het
Pgf T C 12: 85,216,316 (GRCm39) probably null Het
Pkhd1l1 TTTT TTTTTTTTTTTATTT 15: 44,421,901 (GRCm39) probably benign Het
Pou2f1 G A 1: 165,740,800 (GRCm39) T134I unknown Het
Pramel32 T A 4: 88,546,006 (GRCm39) R445S probably damaging Het
Prss52 A G 14: 64,350,922 (GRCm39) S236G probably damaging Het
Rpsa A G 9: 119,960,105 (GRCm39) T223A probably benign Het
Shprh A G 10: 11,040,585 (GRCm39) N686S probably benign Het
Six3 CGG CGGTGG 17: 85,928,796 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Slc22a27 C T 19: 7,903,949 (GRCm39) G63S probably benign Het
Tmcc2 G T 1: 132,288,756 (GRCm39) N310K probably damaging Het
Tmem144 A T 3: 79,729,961 (GRCm39) L263Q probably damaging Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Troap T C 15: 98,973,281 (GRCm39) S16P probably benign Het
Ttn T C 2: 76,543,915 (GRCm39) T33024A probably benign Het
Usp2 A ACATGTGACCTGTTCTTCACTTACT 9: 44,000,427 (GRCm39) probably benign Het
Was CTCCTCCT C X: 7,952,470 (GRCm39) probably null Het
Zfp672 A G 11: 58,206,938 (GRCm39) V461A probably benign Het
Other mutations in Cad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Cad APN 5 31,218,828 (GRCm39) missense probably damaging 1.00
IGL00908:Cad APN 5 31,216,398 (GRCm39) missense possibly damaging 0.93
IGL01068:Cad APN 5 31,219,114 (GRCm39) splice site probably benign
IGL01638:Cad APN 5 31,224,958 (GRCm39) missense probably damaging 1.00
IGL02483:Cad APN 5 31,218,170 (GRCm39) critical splice acceptor site probably null
IGL02499:Cad APN 5 31,226,948 (GRCm39) missense probably damaging 1.00
IGL02691:Cad APN 5 31,212,638 (GRCm39) missense probably damaging 1.00
IGL03002:Cad APN 5 31,212,330 (GRCm39) missense probably benign 0.00
PIT4696001:Cad UTSW 5 31,229,438 (GRCm39) missense probably damaging 0.99
R0212:Cad UTSW 5 31,235,454 (GRCm39) missense probably damaging 1.00
R0317:Cad UTSW 5 31,229,665 (GRCm39) missense probably benign 0.01
R0335:Cad UTSW 5 31,231,329 (GRCm39) unclassified probably benign
R0401:Cad UTSW 5 31,231,330 (GRCm39) unclassified probably benign
R0445:Cad UTSW 5 31,230,053 (GRCm39) missense probably benign 0.08
R0494:Cad UTSW 5 31,234,856 (GRCm39) unclassified probably benign
R0532:Cad UTSW 5 31,219,531 (GRCm39) splice site probably benign
R0539:Cad UTSW 5 31,232,801 (GRCm39) splice site probably benign
R0578:Cad UTSW 5 31,216,120 (GRCm39) missense probably benign 0.01
R0590:Cad UTSW 5 31,219,575 (GRCm39) missense probably damaging 1.00
R0638:Cad UTSW 5 31,235,032 (GRCm39) missense probably damaging 0.98
R0831:Cad UTSW 5 31,224,944 (GRCm39) missense probably damaging 1.00
R1329:Cad UTSW 5 31,216,926 (GRCm39) missense probably damaging 1.00
R1513:Cad UTSW 5 31,226,106 (GRCm39) missense probably damaging 1.00
R1531:Cad UTSW 5 31,233,563 (GRCm39) missense probably benign 0.14
R1763:Cad UTSW 5 31,218,295 (GRCm39) missense probably damaging 1.00
R1785:Cad UTSW 5 31,215,416 (GRCm39) missense probably damaging 1.00
R1786:Cad UTSW 5 31,215,416 (GRCm39) missense probably damaging 1.00
R2131:Cad UTSW 5 31,215,416 (GRCm39) missense probably damaging 1.00
R2165:Cad UTSW 5 31,219,564 (GRCm39) missense probably damaging 1.00
R3103:Cad UTSW 5 31,219,018 (GRCm39) missense possibly damaging 0.95
R3113:Cad UTSW 5 31,231,481 (GRCm39) missense possibly damaging 0.50
R3762:Cad UTSW 5 31,232,890 (GRCm39) splice site probably null
R3847:Cad UTSW 5 31,218,994 (GRCm39) missense probably damaging 1.00
R3898:Cad UTSW 5 31,231,366 (GRCm39) missense probably benign 0.06
R3943:Cad UTSW 5 31,229,729 (GRCm39) critical splice donor site probably null
R4213:Cad UTSW 5 31,229,688 (GRCm39) missense probably benign 0.01
R4458:Cad UTSW 5 31,218,570 (GRCm39) missense probably damaging 1.00
R4562:Cad UTSW 5 31,215,477 (GRCm39) missense possibly damaging 0.82
R4629:Cad UTSW 5 31,227,639 (GRCm39) missense probably damaging 1.00
R4717:Cad UTSW 5 31,224,030 (GRCm39) critical splice acceptor site probably null
R4811:Cad UTSW 5 31,232,034 (GRCm39) missense probably benign 0.02
R5044:Cad UTSW 5 31,212,365 (GRCm39) missense probably benign 0.00
R5630:Cad UTSW 5 31,217,917 (GRCm39) missense probably damaging 1.00
R5660:Cad UTSW 5 31,234,191 (GRCm39) missense probably damaging 1.00
R6008:Cad UTSW 5 31,226,456 (GRCm39) missense probably damaging 1.00
R6029:Cad UTSW 5 31,212,327 (GRCm39) missense possibly damaging 0.65
R6073:Cad UTSW 5 31,219,906 (GRCm39) missense possibly damaging 0.84
R6240:Cad UTSW 5 31,230,322 (GRCm39) missense probably benign 0.00
R6260:Cad UTSW 5 31,224,144 (GRCm39) missense probably null
R7145:Cad UTSW 5 31,224,956 (GRCm39) missense possibly damaging 0.89
R7303:Cad UTSW 5 31,217,557 (GRCm39) critical splice donor site probably null
R7352:Cad UTSW 5 31,215,422 (GRCm39) missense probably damaging 1.00
R7382:Cad UTSW 5 31,233,173 (GRCm39) missense probably benign
R7387:Cad UTSW 5 31,219,284 (GRCm39) missense probably damaging 1.00
R7455:Cad UTSW 5 31,231,506 (GRCm39) missense probably damaging 0.99
R7596:Cad UTSW 5 31,226,392 (GRCm39) missense probably benign
R7627:Cad UTSW 5 31,217,508 (GRCm39) missense probably damaging 1.00
R7898:Cad UTSW 5 31,218,829 (GRCm39) missense probably damaging 1.00
R8022:Cad UTSW 5 31,226,150 (GRCm39) missense probably damaging 1.00
R8115:Cad UTSW 5 31,218,271 (GRCm39) missense possibly damaging 0.82
R8511:Cad UTSW 5 31,233,165 (GRCm39) missense probably benign 0.00
R8523:Cad UTSW 5 31,215,450 (GRCm39) missense probably damaging 0.98
R8690:Cad UTSW 5 31,232,500 (GRCm39) missense possibly damaging 0.58
R8697:Cad UTSW 5 31,231,945 (GRCm39) missense probably benign 0.06
R8698:Cad UTSW 5 31,234,819 (GRCm39) missense probably benign
R8699:Cad UTSW 5 31,233,605 (GRCm39) missense possibly damaging 0.80
R8803:Cad UTSW 5 31,226,908 (GRCm39) missense probably damaging 1.00
R9262:Cad UTSW 5 31,225,009 (GRCm39) missense probably null
R9272:Cad UTSW 5 31,218,576 (GRCm39) missense possibly damaging 0.91
R9287:Cad UTSW 5 31,230,000 (GRCm39) missense possibly damaging 0.67
R9314:Cad UTSW 5 31,234,988 (GRCm39) missense probably damaging 1.00
R9609:Cad UTSW 5 31,228,018 (GRCm39) critical splice donor site probably null
R9665:Cad UTSW 5 31,229,703 (GRCm39) missense probably benign 0.28
RF001:Cad UTSW 5 31,217,556 (GRCm39) critical splice donor site probably benign
X0021:Cad UTSW 5 31,225,475 (GRCm39) missense probably null 1.00
X0022:Cad UTSW 5 31,229,661 (GRCm39) missense probably damaging 0.99
Z1177:Cad UTSW 5 31,232,472 (GRCm39) missense probably benign 0.25
Z1177:Cad UTSW 5 31,225,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGCACAGCATTGAACCTC -3'
(R):5'- ACTTCCAGGCAAGCACAGAG -3'

Sequencing Primer
(F):5'- AGCATTGAACCTCAGTCCTC -3'
(R):5'- CACAGAGAGGGCGAGCGTC -3'
Posted On 2019-12-04