Incidental Mutation 'R9701:Urod'
ID 729558
Institutional Source Beutler Lab
Gene Symbol Urod
Ensembl Gene ENSMUSG00000028684
Gene Name uroporphyrinogen decarboxylase
Synonyms Uro-d
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116847162-116851610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116849778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 207 (V207M)
Ref Sequence ENSEMBL: ENSMUSP00000030446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000044823] [ENSMUST00000050067] [ENSMUST00000130273]
AlphaFold P70697
Predicted Effect probably damaging
Transcript: ENSMUST00000030446
AA Change: V207M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
AA Change: V207M

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,786,054 (GRCm39) D673G probably benign Het
Alg8 T A 7: 97,027,486 (GRCm39) V118E possibly damaging Het
Ap4e1 T C 2: 126,875,563 (GRCm39) V218A probably benign Het
Armc12 A T 17: 28,751,375 (GRCm39) D123V probably damaging Het
Bltp3b G A 10: 89,615,755 (GRCm39) V133I probably benign Het
Bms1 T A 6: 118,368,147 (GRCm39) K1039I probably damaging Het
Col4a2 A G 8: 11,493,104 (GRCm39) N1299S probably benign Het
Cux1 T C 5: 136,343,169 (GRCm39) D405G probably damaging Het
Cwf19l2 A T 9: 3,430,454 (GRCm39) Q262L probably damaging Het
Dclk3 A G 9: 111,298,244 (GRCm39) D596G probably damaging Het
Dnah7a A T 1: 53,561,388 (GRCm39) C2090S probably benign Het
Dock7 T C 4: 98,846,384 (GRCm39) D1749G unknown Het
Dock9 A T 14: 121,876,983 (GRCm39) C463S probably benign Het
Dyrk1b G A 7: 27,885,838 (GRCm39) R548Q probably damaging Het
Egr1 T C 18: 34,995,674 (GRCm39) F152S probably damaging Het
Eln C A 5: 134,744,559 (GRCm39) A479S unknown Het
Gm973 T A 1: 59,566,032 (GRCm39) W84R possibly damaging Het
Gnpat A G 8: 125,613,678 (GRCm39) K642E probably benign Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
Gpx6 A T 13: 21,501,777 (GRCm39) Q133L probably benign Het
Gzmn T C 14: 56,405,310 (GRCm39) Y58C probably benign Het
Hcfc2 G T 10: 82,574,269 (GRCm39) G148* probably null Het
Hspa5 C T 2: 34,664,649 (GRCm39) R368* probably null Het
Igkv3-10 T C 6: 70,550,001 (GRCm39) V49A probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A T 10: 67,060,745 (GRCm39) I852F possibly damaging Het
Lhx5 T A 5: 120,572,663 (GRCm39) V94E possibly damaging Het
Map1s C T 8: 71,369,712 (GRCm39) T928I possibly damaging Het
Mib1 T A 18: 10,798,494 (GRCm39) L785H probably damaging Het
Mrgpra6 C T 7: 46,835,533 (GRCm39) R296K probably benign Het
Mrpl9 A G 3: 94,351,892 (GRCm39) probably null Het
Mutyh A G 4: 116,676,485 (GRCm39) S486G probably benign Het
Naa15 T A 3: 51,349,370 (GRCm39) Y96* probably null Het
Nlrp1a T C 11: 70,987,946 (GRCm39) S1175G probably benign Het
Nup153 A T 13: 46,840,211 (GRCm39) D1132E probably benign Het
Nxf1 G A 19: 8,739,772 (GRCm39) G42D probably damaging Het
Or13j1 C A 4: 43,705,793 (GRCm39) M258I probably benign Het
Plekhg6 C T 6: 125,347,602 (GRCm39) V451I probably benign Het
Prkab1 T C 5: 116,162,274 (GRCm39) E12G probably benign Het
Ptprd A G 4: 75,916,896 (GRCm39) Y752H probably damaging Het
Rbm12 A G 2: 155,938,166 (GRCm39) I702T probably benign Het
Rnf212 A G 5: 108,922,738 (GRCm39) probably null Het
Sall3 C A 18: 81,017,443 (GRCm39) A162S probably benign Het
Sec24d T C 3: 123,063,321 (GRCm39) S13P probably damaging Het
Serpina16 T C 12: 103,638,873 (GRCm39) Q238R probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 T A 4: 112,111,094 (GRCm39) V73E probably damaging Het
Slc6a20a T A 9: 123,489,585 (GRCm39) T153S probably damaging Het
Slc6a6 T C 6: 91,700,478 (GRCm39) Y69H probably damaging Het
Sorl1 A G 9: 42,003,766 (GRCm39) Y177H probably damaging Het
Srbd1 T C 17: 86,433,559 (GRCm39) Y346C probably damaging Het
Syne2 A G 12: 76,037,197 (GRCm39) E3792G probably damaging Het
Tg C G 15: 66,637,991 (GRCm39) T2268S probably benign Het
Thbs1 A G 2: 117,950,716 (GRCm39) N721S probably benign Het
Treh A G 9: 44,594,648 (GRCm39) Y275C probably damaging Het
Trpv5 G T 6: 41,651,594 (GRCm39) H195N possibly damaging Het
Tshz1 A G 18: 84,032,579 (GRCm39) S610P possibly damaging Het
Ttll4 A G 1: 74,720,482 (GRCm39) N499S probably benign Het
Ttn G T 2: 76,748,927 (GRCm39) H4041N probably benign Het
Ubtf A G 11: 102,199,718 (GRCm39) probably null Het
Vegfa G A 17: 46,342,713 (GRCm39) P35L probably damaging Het
Zc3h7b C T 15: 81,676,505 (GRCm39) P749L probably damaging 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
R0650:Urod UTSW 4 116,848,473 (GRCm39) missense probably benign 0.25
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
Predicted Primers PCR Primer
(F):5'- CAGTCTCAGGAAGGGCTAAGAATC -3'
(R):5'- ACAAGGGATCCTGTGTCTGC -3'

Sequencing Primer
(F):5'- TCAGGGGTCGCATATCAGATCTC -3'
(R):5'- GGATCCTGTGTCTGCCGTCC -3'
Posted On 2022-10-06