Incidental Mutation 'R2233:Otc'
ID 240216
Institutional Source Beutler Lab
Gene Symbol Otc
Ensembl Gene ENSMUSG00000031173
Gene Name ornithine transcarbamylase
Synonyms
MMRRC Submission 040234-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock # R2233 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 10252305-10321024 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10303367 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 216 (Q216R)
Ref Sequence ENSEMBL: ENSMUSP00000111190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049910] [ENSMUST00000115528]
AlphaFold P11725
Predicted Effect probably benign
Transcript: ENSMUST00000049910
AA Change: Q216R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056152
Gene: ENSMUSG00000031173
AA Change: Q216R

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:OTCace_N 40 181 1.6e-44 PFAM
Pfam:OTCace 187 341 9.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115528
AA Change: Q216R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111190
Gene: ENSMUSG00000031173
AA Change: Q216R

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:OTCace_N 40 182 3.3e-42 PFAM
Pfam:OTCace 187 340 1.1e-43 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
PHENOTYPE: Hemizygous males and homozygous females for spontaneous mutations exhibit small size, paucity of hair, wrinkled skin, orotic acidurea with bladder stones, hyperammonemia, reduced plasma arginine and citrulline, and loss of brain cholinergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,545,512 I360V probably benign Het
Adarb1 A G 10: 77,317,349 V322A probably damaging Het
Atad2b T G 12: 5,006,745 F867C probably damaging Het
Ccdc24 T C 4: 117,869,916 K79R possibly damaging Het
Cfap44 A G 16: 44,451,525 I1214V probably benign Het
Chrm4 A G 2: 91,928,530 S428G probably benign Het
Chrnb1 A T 11: 69,795,602 I64N probably damaging Het
Crh A T 3: 19,693,932 M182K probably damaging Het
Dazap1 A G 10: 80,277,599 K110E possibly damaging Het
Dhx16 T C 17: 35,887,886 C737R probably damaging Het
Dst A G 1: 34,274,262 E6384G probably damaging Het
Dync1i2 C T 2: 71,249,420 Q419* probably null Het
E2f4 T A 8: 105,298,651 V121E probably damaging Het
Enah G A 1: 181,921,972 P415L probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fezf1 T C 6: 23,246,003 T388A probably damaging Het
Gimap6 T A 6: 48,704,484 H72L possibly damaging Het
Gm11149 A G 9: 49,562,146 probably benign Het
Gm12695 C T 4: 96,724,029 R499Q probably damaging Het
Grhl1 A G 12: 24,608,511 D385G probably damaging Het
Hyou1 C T 9: 44,389,091 T855M probably benign Het
Igf1r T A 7: 68,212,080 N1129K probably damaging Het
Iglon5 T C 7: 43,480,638 E34G probably damaging Het
Kcnab1 T A 3: 65,319,467 V189D probably damaging Het
Kifap3 T A 1: 163,856,065 D438E probably benign Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Lrrc41 G A 4: 116,096,385 R756Q possibly damaging Het
Lrrc49 A T 9: 60,598,157 F538L possibly damaging Het
Nphp3 G A 9: 104,037,376 R1052H probably benign Het
Nynrin G A 14: 55,872,067 V1544I possibly damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1154 G A 2: 87,903,475 S67F probably damaging Het
Olfr1346 T C 7: 6,474,442 S111P possibly damaging Het
Osbpl6 T C 2: 76,586,769 F577L probably damaging Het
Ppp1r12a A G 10: 108,198,919 I108M possibly damaging Het
Prl7a1 C A 13: 27,642,419 probably null Het
Prss16 T C 13: 22,009,409 D72G possibly damaging Het
Qrsl1 T C 10: 43,896,096 K33E probably benign Het
Rabepk A T 2: 34,795,234 I58N possibly damaging Het
Ralgapa1 A T 12: 55,717,071 H1403Q probably benign Het
Rhobtb3 C A 13: 75,872,365 C606F possibly damaging Het
Rnf216 G A 5: 143,090,926 H68Y probably benign Het
Scap T C 9: 110,381,593 C998R probably damaging Het
Scgb1b27 T C 7: 34,021,824 Y46H probably damaging Het
Sel1l2 T C 2: 140,244,165 Y502C probably damaging Het
Sf3a2 G T 10: 80,802,829 A95S probably benign Het
Sis A T 3: 72,913,194 F1412L probably benign Het
Slc25a29 A T 12: 108,835,661 C9S possibly damaging Het
Snap91 T C 9: 86,798,571 T427A probably benign Het
St3gal6 A G 16: 58,473,534 F211L probably damaging Het
Stab1 G A 14: 31,161,880 S240F probably benign Het
Sun3 T A 11: 9,023,371 K109* probably null Het
Syne1 T C 10: 5,041,484 N8410S probably benign Het
Tbx18 G T 9: 87,724,350 S247R probably damaging Het
Tenm3 T C 8: 48,276,169 I1601V probably benign Het
Tmem135 T C 7: 89,154,074 N297S probably damaging Het
Tnk1 C T 11: 69,855,191 probably null Het
Txnl4b A G 8: 109,568,919 probably benign Het
Uck1 T C 2: 32,258,303 D167G probably damaging Het
Vmn2r124 A T 17: 18,049,665 H61L possibly damaging Het
Xylt2 C T 11: 94,669,996 V239M possibly damaging Het
Zmpste24 T C 4: 121,097,965 D12G probably benign Het
Zscan25 A G 5: 145,283,692 Y99C probably damaging Het
Other mutations in Otc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2235:Otc UTSW X 10303367 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCTAGTAACTGTTTCATGGAAGTGG -3'
(R):5'- CTCATGGAATAAAAGGCATCAGC -3'

Sequencing Primer
(F):5'- AAGTGGGTTCCCTCCCC -3'
(R):5'- TCAGCCAAGACTAGTTTCCACTG -3'
Posted On 2014-10-15