Incidental Mutation 'R5130:Dhodh'
ID 394955
Institutional Source Beutler Lab
Gene Symbol Dhodh
Ensembl Gene ENSMUSG00000031730
Gene Name dihydroorotate dehydrogenase
Synonyms 2810417D19Rik
MMRRC Submission 042718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5130 (G1)
Quality Score 160
Status Validated
Chromosome 8
Chromosomal Location 110319876-110335330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110322388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 237 (L237Q)
Ref Sequence ENSEMBL: ENSMUSP00000115934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123605] [ENSMUST00000143900] [ENSMUST00000150804]
AlphaFold O35435
Predicted Effect possibly damaging
Transcript: ENSMUST00000069058
AA Change: L237Q

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070303
Gene: ENSMUSG00000031730
AA Change: L237Q

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DHO_dh 77 377 1.1e-116 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123605
AA Change: L237Q

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: L237Q

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 possibly damaging
Transcript: ENSMUST00000143900
AA Change: L237Q

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117980
Gene: ENSMUSG00000031730
AA Change: L237Q

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DHO_dh 77 277 1.8e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142106
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
Meta Mutation Damage Score 0.1024 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 96% (51/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T C 1: 161,780,184 (GRCm39) N110S possibly damaging Het
Acss3 T C 10: 106,840,586 (GRCm39) I392V possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arhgef11 A G 3: 87,633,321 (GRCm39) H696R possibly damaging Het
Baiap3 G T 17: 25,464,316 (GRCm39) D847E probably benign Het
Cdc27 T C 11: 104,425,600 (GRCm39) K72R probably benign Het
Cry2 T C 2: 92,254,944 (GRCm39) E137G probably benign Het
Dscam A T 16: 96,620,979 (GRCm39) N576K probably benign Het
Eng A G 2: 32,571,518 (GRCm39) N636S probably damaging Het
Ephx2 A T 14: 66,345,511 (GRCm39) I151K probably damaging Het
Fahd1 A G 17: 25,068,733 (GRCm39) C115R probably damaging Het
Fer1l4 T A 2: 155,891,386 (GRCm39) I143F possibly damaging Het
Iqgap3 C A 3: 88,016,161 (GRCm39) N981K probably damaging Het
Kcna5 T C 6: 126,511,496 (GRCm39) I211V probably benign Het
Mcm9 A T 10: 53,506,495 (GRCm39) V14E possibly damaging Het
Mlh1 A G 9: 111,058,906 (GRCm39) probably null Het
Mylk A G 16: 34,809,367 (GRCm39) K1775E probably damaging Het
Myo18b T C 5: 113,021,769 (GRCm39) D541G probably benign Het
Ncapd2 A T 6: 125,146,887 (GRCm39) M1233K possibly damaging Het
Nf2 A T 11: 4,779,862 (GRCm39) probably benign Het
Nova2 C T 7: 18,660,069 (GRCm39) T22I unknown Het
Or3a1d A T 11: 74,237,993 (GRCm39) M19K probably damaging Het
Or7g28 T A 9: 19,272,369 (GRCm39) Y94F possibly damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcdha2 A T 18: 37,073,722 (GRCm39) N451I probably damaging Het
Pcdhb12 T A 18: 37,568,877 (GRCm39) F8I probably benign Het
Pdzph1 A C 17: 59,229,604 (GRCm39) L1018W probably damaging Het
Prdm9 T C 17: 15,764,729 (GRCm39) R684G probably benign Het
Rabep1 T A 11: 70,795,557 (GRCm39) V261E probably damaging Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Samd9l A T 6: 3,374,548 (GRCm39) D904E possibly damaging Het
Siah3 A T 14: 75,763,381 (GRCm39) K211* probably null Het
Slc5a8 T A 10: 88,762,077 (GRCm39) N572K probably benign Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Sowahb T A 5: 93,190,630 (GRCm39) K696N possibly damaging Het
St7l A T 3: 104,803,080 (GRCm39) H330L probably damaging Het
Tnrc6c T A 11: 117,629,176 (GRCm39) probably null Het
Ttc28 G T 5: 111,040,722 (GRCm39) V37F probably benign Het
Uaca C A 9: 60,787,510 (GRCm39) Q1409K probably damaging Het
V1rd19 T A 7: 23,702,537 (GRCm39) M1K probably null Het
Vmn1r225 A G 17: 20,723,047 (GRCm39) R163G possibly damaging Het
Wdr87-ps T C 7: 29,228,699 (GRCm39) noncoding transcript Het
Zc3h3 C A 15: 75,651,139 (GRCm39) V694L probably damaging Het
Zfp442 G T 2: 150,251,530 (GRCm39) T123K possibly damaging Het
Zmym1 A T 4: 126,942,451 (GRCm39) S646T 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
R5215:Dhodh UTSW 8 110,332,975 (GRCm39) unclassified probably benign
R5880:Dhodh UTSW 8 110,321,409 (GRCm39) missense 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'- GTTATCCCAGCAGGCAATAGAC -3'
(R):5'- ATGTTCCTTTGCCAGCCTAG -3'

Sequencing Primer
(F):5'- TAGACAATGAAAGCCGCCCCTG -3'
(R):5'- TACCTTTTCAGGACCACTAAGGAG -3'
Posted On 2016-06-21