Incidental Mutation 'R5880:Dhodh'
ID 490495
Institutional Source Beutler Lab
Gene Symbol Dhodh
Ensembl Gene ENSMUSG00000031730
Gene Name dihydroorotate dehydrogenase
Synonyms 2810417D19Rik
MMRRC Submission 043235-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5880 (G1)
Quality Score 168
Status Not validated
Chromosome 8
Chromosomal Location 110319876-110335330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110321409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 326 (T326S)
Ref Sequence ENSEMBL: ENSMUSP00000115934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123605] [ENSMUST00000143900] [ENSMUST00000150804]
AlphaFold O35435
Predicted Effect probably benign
Transcript: ENSMUST00000069058
AA Change: T326S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070303
Gene: ENSMUSG00000031730
AA Change: T326S

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DHO_dh 77 377 1.1e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123605
AA Change: T326S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: T326S

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DHO_dh 77 377 2e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125779
Predicted Effect probably benign
Transcript: ENSMUST00000133353
SMART Domains Protein: ENSMUSP00000114190
Gene: ENSMUSG00000031730

DomainStartEndE-ValueType
Pfam:DHO_dh 8 85 2.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142106
Predicted Effect probably benign
Transcript: ENSMUST00000143900
SMART Domains Protein: ENSMUSP00000117980
Gene: ENSMUSG00000031730

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DHO_dh 77 277 1.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150804
SMART Domains Protein: ENSMUSP00000115549
Gene: ENSMUSG00000031730

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:DHO_dh 75 162 7.2e-32 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 93.4%
  • 20x: 74.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 G A 18: 74,937,072 (GRCm39) V319M probably damaging Het
Actrt2 T A 4: 154,751,747 (GRCm39) T130S probably benign Het
Ap1g2 A G 14: 55,340,157 (GRCm39) S392P probably damaging Het
Cby2 C T 14: 75,821,243 (GRCm39) V119I probably benign Het
Cdh23 T A 10: 60,220,713 (GRCm39) N1344Y probably damaging Het
Cyp4x1 A T 4: 114,965,918 (GRCm39) H469Q possibly damaging Het
Ebf3 T G 7: 136,800,367 (GRCm39) N529T probably benign Het
Echdc2 A C 4: 108,030,097 (GRCm39) I133L possibly damaging Het
Fbn2 A T 18: 58,156,354 (GRCm39) C2488* probably null Het
Fndc3b T A 3: 27,483,052 (GRCm39) T1049S probably damaging Het
Igsf10 T C 3: 59,238,252 (GRCm39) Y643C probably damaging Het
Il15ra A G 2: 11,735,426 (GRCm39) *104W probably null Het
Iqgap3 T A 3: 88,024,509 (GRCm39) S628R possibly damaging Het
Lrp1b C T 2: 41,231,826 (GRCm39) V1215M probably benign Het
Mmp20 G A 9: 7,655,002 (GRCm39) R370Q probably benign Het
Or10al4 T C 17: 38,037,545 (GRCm39) V219A probably benign Het
Or4d5 A T 9: 40,012,543 (GRCm39) M81K possibly damaging Het
Or4k6 A G 14: 50,476,172 (GRCm39) S57P possibly damaging Het
Patj A T 4: 98,299,382 (GRCm39) H168L probably damaging Het
Peak1 A T 9: 56,114,894 (GRCm39) I319N probably damaging Het
Rgs20 A T 1: 4,994,104 (GRCm39) C93S probably damaging Het
Sh3tc2 A T 18: 62,106,382 (GRCm39) H137L probably benign Het
Sycp2 A G 2: 178,016,263 (GRCm39) V733A possibly damaging Het
Tet3 G C 6: 83,347,532 (GRCm39) P1154R probably damaging Het
Other mutations in Dhodh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02386:Dhodh APN 8 110,321,396 (GRCm39) missense probably damaging 1.00
IGL02514:Dhodh APN 8 110,332,896 (GRCm39) nonsense probably null
R2268:Dhodh UTSW 8 110,321,306 (GRCm39) missense possibly damaging 0.94
R3405:Dhodh UTSW 8 110,330,107 (GRCm39) nonsense probably null
R3406:Dhodh UTSW 8 110,330,107 (GRCm39) nonsense probably null
R3875:Dhodh UTSW 8 110,321,592 (GRCm39) missense probably null 0.01
R4694:Dhodh UTSW 8 110,333,048 (GRCm39) missense probably damaging 1.00
R4709:Dhodh UTSW 8 110,328,170 (GRCm39) splice site probably null
R5130:Dhodh UTSW 8 110,322,388 (GRCm39) missense possibly damaging 0.75
R5215:Dhodh UTSW 8 110,332,975 (GRCm39) unclassified probably benign
R8120:Dhodh UTSW 8 110,328,057 (GRCm39) missense probably benign 0.05
R8359:Dhodh UTSW 8 110,333,038 (GRCm39) missense probably benign 0.04
R8827:Dhodh UTSW 8 110,334,928 (GRCm39) intron probably benign
R9040:Dhodh UTSW 8 110,328,781 (GRCm39) critical splice donor site probably benign
R9082:Dhodh UTSW 8 110,322,734 (GRCm39) missense probably damaging 1.00
R9531:Dhodh UTSW 8 110,321,623 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACTGACGACAAGTGTCAC -3'
(R):5'- AGACGATCCGGGAGATGTAC -3'

Sequencing Primer
(F):5'- CGTCTCAAGCTGCATCCAG -3'
(R):5'- GATGTACGCCCTCACCCAAGG -3'
Posted On 2017-10-20