Incidental Mutation 'R0650:Urod'
ID 62194
Institutional Source Beutler Lab
Gene Symbol Urod
Ensembl Gene ENSMUSG00000028684
Gene Name uroporphyrinogen decarboxylase
Synonyms Uro-d
MMRRC Submission 038835-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0650 (G1)
Quality Score 153
Status Validated
Chromosome 4
Chromosomal Location 116847162-116851610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116848473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 300 (T300A)
Ref Sequence ENSEMBL: ENSMUSP00000030446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000044823] [ENSMUST00000050067] [ENSMUST00000130273]
AlphaFold P70697
Predicted Effect probably benign
Transcript: ENSMUST00000030446
AA Change: T300A

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
AA Change: T300A

DomainStartEndE-ValueType
Pfam:URO-D 14 360 2.4e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044823
SMART Domains Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948

DomainStartEndE-ValueType
low complexity region 35 56 N/A INTRINSIC
low complexity region 119 182 N/A INTRINSIC
low complexity region 692 708 N/A INTRINSIC
low complexity region 982 995 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050067
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861

DomainStartEndE-ValueType
low complexity region 26 41 N/A INTRINSIC
low complexity region 68 81 N/A INTRINSIC
APC10 237 391 6.75e-23 SMART
HECTc 514 857 1.27e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127635
Predicted Effect probably benign
Transcript: ENSMUST00000130273
SMART Domains Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684

DomainStartEndE-ValueType
Pfam:URO-D 1 64 1.2e-18 PFAM
Pfam:URO-D 60 120 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139209
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: This gene encodes an enzyme that catalyzes the conversion of uroporphyrinogen-III to coproporphyrinogen-III, an intermediate step in heme biosynthesis. Homozygous knockout mice for this gene exhibit embryonic lethality. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous inactivation of this loci results in embryonic lethality. Though heterozygous mutant mice are overtly normal, they are susceptible to hepatic iron loading and porphyria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N15Rik A G X: 68,989,391 (GRCm39) S96G unknown Het
4930447C04Rik T C 12: 72,956,830 (GRCm39) D120G probably damaging Het
Actmap A T 7: 26,902,072 (GRCm39) H233L probably damaging Het
Adgrg5 T A 8: 95,660,785 (GRCm39) probably null Het
Afg3l2 G T 18: 67,548,627 (GRCm39) H534Q possibly damaging Het
Ankar G A 1: 72,695,380 (GRCm39) probably benign Het
Arid2 T A 15: 96,299,930 (GRCm39) F1814L possibly damaging Het
Asb15 C T 6: 24,566,163 (GRCm39) A372V probably damaging Het
Atg16l1 A T 1: 87,709,421 (GRCm39) D403V possibly damaging Het
Bnc2 T C 4: 84,211,433 (GRCm39) D407G probably benign Het
Ccdc121 T C 5: 31,643,312 (GRCm39) probably benign Het
Cdan1 A G 2: 120,556,526 (GRCm39) V633A probably benign Het
Cfap46 T C 7: 139,185,571 (GRCm39) Y2482C unknown Het
Chd8 T C 14: 52,439,761 (GRCm39) E964G probably benign Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Depdc1b A G 13: 108,460,443 (GRCm39) N18D probably damaging Het
Fis1 T A 5: 136,991,048 (GRCm39) V4E probably damaging Het
Gba2 T A 4: 43,570,424 (GRCm39) probably null Het
Gm2381 C T 7: 42,469,504 (GRCm39) G207R probably damaging Het
Gpr89 T A 3: 96,804,640 (GRCm39) probably benign Het
Gtf2i A G 5: 134,290,691 (GRCm39) probably benign Het
Herc2 T G 7: 55,762,958 (GRCm39) S896A probably damaging Het
Huwe1 T C X: 150,659,309 (GRCm39) S921P probably damaging Het
Iqgap1 T A 7: 80,386,143 (GRCm39) K936I probably damaging Het
Kcna4 T A 2: 107,125,927 (GRCm39) Y220* probably null Het
Krt18 A G 15: 101,937,920 (GRCm39) D139G possibly damaging Het
Krt87 T C 15: 101,384,921 (GRCm39) N392D probably damaging Het
L3mbtl4 G A 17: 69,081,286 (GRCm39) C558Y probably damaging Het
Lamc2 T A 1: 153,019,622 (GRCm39) I440F possibly damaging Het
Lrrc28 T C 7: 67,267,833 (GRCm39) N98S probably damaging Het
Lrrk1 G A 7: 65,942,084 (GRCm39) A718V probably damaging Het
Mrgprx2 T C 7: 48,132,666 (GRCm39) I51V probably damaging Het
Myt1 A T 2: 181,424,408 (GRCm39) R25* probably null Het
Npdc1 C T 2: 25,298,021 (GRCm39) T199I probably benign Het
Nup98 T A 7: 101,801,660 (GRCm39) Y755F probably damaging Het
Or51q1c A G 7: 103,652,446 (GRCm39) probably null Het
Or5p69 T A 7: 107,966,996 (GRCm39) C100S probably damaging Het
Or5p76 G T 7: 108,122,289 (GRCm39) N289K probably damaging Het
Or8g22 T A 9: 38,957,996 (GRCm39) M240L probably benign Het
Osgin1 A T 8: 120,172,211 (GRCm39) Y335F probably damaging Het
Pde10a A T 17: 9,161,797 (GRCm39) I493F probably damaging Het
Pdgfrb A G 18: 61,212,780 (GRCm39) I895V probably benign Het
Peg10 T TCCCCANNANNNN 6: 4,756,475 (GRCm39) probably benign Het
Pidd1 A T 7: 141,020,726 (GRCm39) L457* probably null Het
Pik3c2a A G 7: 115,945,482 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plcg1 C T 2: 160,595,283 (GRCm39) probably benign Het
Prr13 A C 15: 102,370,650 (GRCm39) *138C probably null Het
Prrc2b T C 2: 32,119,267 (GRCm39) probably benign Het
Psph T C 5: 129,868,633 (GRCm39) probably benign Het
Ripor1 A G 8: 106,344,746 (GRCm39) probably benign Het
Scg3 A G 9: 75,576,617 (GRCm39) S253P probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgk1 A G 10: 21,758,556 (GRCm39) N7D probably damaging Het
Skor2 T C 18: 76,964,255 (GRCm39) F940L probably benign Het
Slbp T C 5: 33,802,833 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Susd5 A T 9: 113,911,603 (GRCm39) H171L possibly damaging Het
Sybu T C 15: 44,536,664 (GRCm39) E354G probably benign Het
Synpo T C 18: 60,735,412 (GRCm39) N845D possibly damaging Het
Tdrd6 A T 17: 43,939,050 (GRCm39) I666N probably damaging Het
Tm9sf4 T C 2: 153,029,285 (GRCm39) I111T probably benign Het
Tnc T C 4: 63,926,971 (GRCm39) T852A probably benign Het
Tnfrsf10b T A 14: 70,013,625 (GRCm39) I185K probably damaging Het
Tnks1bp1 A G 2: 84,892,974 (GRCm39) E305G possibly damaging Het
Tnrc6b T C 15: 80,668,959 (GRCm39) V22A probably benign Het
Ttn A T 2: 76,598,956 (GRCm39) F19319Y probably damaging Het
Ubr5 T C 15: 38,031,051 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,627 (GRCm39) Q191L probably benign Het
Vmn1r213 A G 13: 23,195,564 (GRCm39) probably benign Het
Znfx1 G A 2: 166,889,574 (GRCm39) Q723* probably null Het
Other mutations in Urod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Urod APN 4 116,847,581 (GRCm39) missense probably damaging 1.00
IGL02174:Urod APN 4 116,847,479 (GRCm39) unclassified probably benign
P0042:Urod UTSW 4 116,850,143 (GRCm39) missense probably damaging 1.00
R3755:Urod UTSW 4 116,850,601 (GRCm39) missense probably damaging 1.00
R4230:Urod UTSW 4 116,849,880 (GRCm39) missense probably benign 0.39
R4731:Urod UTSW 4 116,848,870 (GRCm39) missense possibly damaging 0.91
R4732:Urod UTSW 4 116,848,870 (GRCm39) missense possibly damaging 0.91
R4733:Urod UTSW 4 116,848,870 (GRCm39) missense possibly damaging 0.91
R5277:Urod UTSW 4 116,847,482 (GRCm39) unclassified probably benign
R7080:Urod UTSW 4 116,849,838 (GRCm39) missense probably damaging 1.00
R8730:Urod UTSW 4 116,850,729 (GRCm39) intron probably benign
R9701:Urod UTSW 4 116,849,778 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGACAGACAAATGGACAGCCAC -3'
(R):5'- GCTATGAGGTAGTTGGACTTGACTGGA -3'

Sequencing Primer
(F):5'- AATGTCCTGCTTTCTTAGAGTTTAC -3'
(R):5'- ACTTGACTGGACAGTGGCTC -3'
Posted On 2013-07-30