Incidental Mutation 'R7898:Cad'
ID 609808
Institutional Source Beutler Lab
Gene Symbol Cad
Ensembl Gene ENSMUSG00000013629
Gene Name carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Synonyms 2410008J01Rik
MMRRC Submission 045950-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7898 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 31212124-31235823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31218829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 550 (Y550C)
Ref Sequence ENSEMBL: ENSMUSP00000013773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013773] [ENSMUST00000200953] [ENSMUST00000201182] [ENSMUST00000201838] [ENSMUST00000202795]
AlphaFold B2RQC6
Predicted Effect probably damaging
Transcript: ENSMUST00000013773
AA Change: Y550C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: Y550C

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 damaging
Transcript: ENSMUST00000200953
AA Change: Y550C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: Y550C

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 damaging
Transcript: ENSMUST00000201182
AA Change: Y550C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: Y550C

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 damaging
Transcript: ENSMUST00000201838
AA Change: Y550C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: Y550C

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 damaging
Transcript: ENSMUST00000202795
AA Change: Y550C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: Y550C

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,255,275 (GRCm39) probably null Het
Afg2a T G 3: 37,474,620 (GRCm39) M44R probably benign Het
Ankef1 C A 2: 136,395,618 (GRCm39) N649K probably benign Het
Arl5b T A 2: 15,079,869 (GRCm39) S147T probably damaging Het
Arnt2 A T 7: 83,918,155 (GRCm39) probably null Het
Ash1l A G 3: 88,890,932 (GRCm39) E937G possibly damaging Het
Asxl1 T G 2: 153,241,854 (GRCm39) S802R possibly damaging Het
Cacna1h T A 17: 25,611,250 (GRCm39) H516L probably damaging Het
Cdo1 A G 18: 46,861,157 (GRCm39) I18T probably benign Het
Cfap251 A T 5: 123,460,517 (GRCm39) I1160F probably damaging Het
Chd2 A G 7: 73,169,223 (GRCm39) probably null Het
Dbf4 A G 5: 8,458,232 (GRCm39) probably null Het
Dcdc2a A T 13: 25,286,361 (GRCm39) R132W possibly damaging Het
Dnah10 T C 5: 124,859,425 (GRCm39) S2131P probably damaging Het
Eef2k A G 7: 120,494,441 (GRCm39) Y599C probably damaging Het
Eno2 C T 6: 124,744,225 (GRCm39) probably null Het
Fam124b T A 1: 80,191,512 (GRCm39) probably benign Het
Fezf2 A G 14: 12,342,701 (GRCm38) I388T possibly damaging Het
Gbp11 T C 5: 105,472,798 (GRCm39) N542S probably benign Het
Gdpd1 T A 11: 86,932,639 (GRCm39) I229F probably damaging Het
Gria1 T A 11: 57,133,591 (GRCm39) V490E probably damaging Het
Grm8 G A 6: 27,762,422 (GRCm39) R268C probably damaging Het
Hectd4 T A 5: 121,469,880 (GRCm39) S2592T probably benign Het
Herpud1 C T 8: 95,118,828 (GRCm39) T194I probably benign Het
Hspa1b T C 17: 35,177,167 (GRCm39) T273A probably benign Het
Iftap T A 2: 101,416,747 (GRCm39) K67N probably benign Het
Ighm T A 12: 113,384,873 (GRCm39) K327* probably null Het
Igkv3-4 A T 6: 70,649,297 (GRCm39) I99F probably damaging Het
Iqca1l T C 5: 24,758,643 (GRCm39) E117G probably damaging Het
Isl2 C A 9: 55,449,723 (GRCm39) S97R probably benign Het
Klhl12 A T 1: 134,386,219 (GRCm39) I4F probably benign Het
Lgalsl2 G A 7: 5,362,441 (GRCm39) R24H probably benign Het
Lrp2 T C 2: 69,271,710 (GRCm39) E4074G probably benign Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Mettl23 T C 11: 116,736,679 (GRCm39) probably benign Het
Mettl24 A G 10: 40,686,478 (GRCm39) E285G probably benign Het
Mis18bp1 A G 12: 65,196,246 (GRCm39) L506P probably benign Het
Mup18 G T 4: 61,590,925 (GRCm39) probably null Het
Myom1 T C 17: 71,352,747 (GRCm39) L357P probably benign Het
Nkx2-9 G A 12: 56,659,031 (GRCm39) A61V probably benign Het
Or52n5 C T 7: 104,588,573 (GRCm39) A280V probably damaging Het
Pbx1 A T 1: 168,012,616 (GRCm39) M340K probably benign Het
Pcdhb17 A T 18: 37,618,233 (GRCm39) N8Y probably benign Het
Pex13 C A 11: 23,600,929 (GRCm39) probably null Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plxnb1 A G 9: 108,943,408 (GRCm39) R1884G probably damaging Het
Polq T A 16: 36,865,245 (GRCm39) V699E probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prr14l A T 5: 32,987,310 (GRCm39) H728Q probably benign Het
Prss12 T C 3: 123,300,145 (GRCm39) V752A possibly damaging Het
Prss56 A G 1: 87,111,921 (GRCm39) S51G probably benign Het
Pwp2 G A 10: 78,009,240 (GRCm39) R854W probably damaging Het
Rhobtb2 C T 14: 70,033,746 (GRCm39) C493Y probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rusf1 C A 7: 127,897,177 (GRCm39) A27S probably benign Het
Scap A G 9: 110,213,811 (GRCm39) N1258S possibly damaging Het
Sec31a C T 5: 100,547,336 (GRCm39) G218R probably damaging Het
Siglec15 A T 18: 78,086,914 (GRCm39) M315K probably benign Het
Slc17a6 G A 7: 51,308,573 (GRCm39) probably null Het
Smchd1 T C 17: 71,684,813 (GRCm39) probably null Het
Spag4 A T 2: 155,911,244 (GRCm39) D393V probably damaging Het
Sulf1 A G 1: 12,875,518 (GRCm39) N176S probably damaging Het
Tmem9 T A 1: 135,955,125 (GRCm39) probably null Het
Tnpo3 T C 6: 29,565,223 (GRCm39) I577V probably benign Het
Tti1 A C 2: 157,835,390 (GRCm39) I956S probably benign Het
Wdr81 T C 11: 75,344,725 (GRCm39) R181G probably benign Het
Zfp462 T A 4: 55,012,995 (GRCm39) C1654S probably damaging Het
Zfp74 A T 7: 29,635,380 (GRCm39) C109* probably null Het
Znrf4 A G 17: 56,818,681 (GRCm39) C209R probably damaging Het
Zzef1 T G 11: 72,687,373 (GRCm39) L84R probably damaging 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
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
RF012: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'- CCATTGAACTGACTGAGGACC -3'
(R):5'- TTACGCAGTTGCCATAGGC -3'

Sequencing Primer
(F):5'- ATCGGAGAGCATGTCGCC -3'
(R):5'- GCCATAGGCGTCTCTCAC -3'
Posted On 2019-12-20