Incidental Mutation 'R2268:Dhodh'
ID 242238
Institutional Source Beutler Lab
Gene Symbol Dhodh
Ensembl Gene ENSMUSG00000031730
Gene Name dihydroorotate dehydrogenase
Synonyms 2810417D19Rik
MMRRC Submission 040268-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2268 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110319876-110335330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110321306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 360 (F360S)
Ref Sequence ENSEMBL: ENSMUSP00000115934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123605] [ENSMUST00000143900] [ENSMUST00000150804]
AlphaFold O35435
Predicted Effect possibly damaging
Transcript: ENSMUST00000123605
AA Change: F360S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: F360S

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
Meta Mutation Damage Score 0.4691 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,496 (GRCm38) M217K probably damaging Het
Adam34 C T 8: 44,103,647 (GRCm39) R666H probably benign Het
Adap2 G T 11: 80,056,552 (GRCm39) Q188H probably damaging Het
Adgrb3 T C 1: 25,150,898 (GRCm39) T872A possibly damaging Het
Ahnak A G 19: 8,987,938 (GRCm39) K3074R possibly damaging Het
Ano7 A T 1: 93,308,161 (GRCm39) D64V possibly damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Arl13a A G X: 133,106,162 (GRCm39) Q236R possibly damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Atn1 C G 6: 124,723,203 (GRCm39) probably benign Het
Ccser1 C T 6: 61,547,827 (GRCm39) T118M probably damaging Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Col17a1 G A 19: 47,638,550 (GRCm39) P1173S probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp4f17 G T 17: 32,736,928 (GRCm39) V87F probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dynap C T 18: 70,374,218 (GRCm39) A103T probably benign Het
Edem2 G A 2: 155,544,137 (GRCm39) P538S probably benign Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Erich6 A T 3: 58,526,260 (GRCm39) S581T probably benign Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Fzd9 A G 5: 135,279,148 (GRCm39) S246P probably damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 A G 1: 150,500,349 (GRCm39) probably benign Het
Hps3 G A 3: 20,067,099 (GRCm39) probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Irs2 T C 8: 11,057,586 (GRCm39) E282G probably damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kif14 T A 1: 136,447,486 (GRCm39) C1430* probably null Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lamb1 A T 12: 31,377,644 (GRCm39) I1630F probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Myoc C T 1: 162,476,625 (GRCm39) T443M probably damaging Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Opcml T C 9: 28,814,651 (GRCm39) I301T possibly damaging Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or8b1 T A 9: 38,399,504 (GRCm39) Y60N probably damaging Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Rdh7 A G 10: 127,720,530 (GRCm39) S281P probably benign Het
Rps17 C T 7: 80,994,746 (GRCm39) R5H probably benign Het
Scgb1b2 T A 7: 30,991,201 (GRCm39) probably benign Het
Skic3 T G 13: 76,260,393 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Snap23 A G 2: 120,429,793 (GRCm39) T213A probably benign Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
St8sia5 T C 18: 77,320,526 (GRCm39) S93P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbc1d22b A G 17: 29,818,828 (GRCm39) H394R probably damaging Het
Tbx5 A T 5: 119,983,174 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vangl1 A T 3: 102,104,160 (GRCm39) Y7N probably damaging Het
Vav2 A T 2: 27,182,667 (GRCm39) probably null Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r15 A G 5: 109,441,073 (GRCm39) Y262H probably benign Het
Vmn2r76 T C 7: 85,879,707 (GRCm39) M198V probably benign Het
Zfp831 A C 2: 174,486,034 (GRCm39) R236S probably benign 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
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
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'- GGTGCAGCAAAGAAAATCTTCCC -3'
(R):5'- TTCAGATATGTGTGGAGCCCC -3'

Sequencing Primer
(F):5'- CCACCCTGCCATCAGTG -3'
(R):5'- ATATGTGTGGAGCCCCGGTTC -3'
Posted On 2014-10-16