Incidental Mutation 'R2235:Otc'
ID 240421
Institutional Source Beutler Lab
Gene Symbol Otc
Ensembl Gene ENSMUSG00000031173
Gene Name ornithine transcarbamylase
Synonyms
MMRRC Submission 040236-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2235 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 10118584-10187275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10169606 bp (GRCm39)
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: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,619,023 (GRCm39) V256A probably benign Het
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adcy2 A T 13: 68,816,611 (GRCm39) Y792N probably damaging Het
Alpk1 T C 3: 127,474,569 (GRCm39) K478R probably benign Het
Atad2b T G 12: 5,056,745 (GRCm39) F867C probably damaging Het
Bach1 A G 16: 87,517,001 (GRCm39) D514G probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Chrm4 A G 2: 91,758,875 (GRCm39) S428G probably benign Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cldn34b3 A T X: 75,310,830 (GRCm39) I133F probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Cts6 T A 13: 61,343,247 (GRCm39) I325F probably damaging Het
Dnah6 T C 6: 73,077,068 (GRCm39) D2347G probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
E2f4 T A 8: 106,025,283 (GRCm39) V121E probably damaging Het
Fhip1a A T 3: 85,568,408 (GRCm39) L1037Q probably damaging Het
Fndc11 A G 2: 180,864,067 (GRCm39) S291G possibly damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hyou1 C T 9: 44,300,388 (GRCm39) T855M probably benign Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kcnab1 T A 3: 65,226,888 (GRCm39) V189D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc49 A T 9: 60,505,440 (GRCm39) F538L possibly damaging Het
Ly6h A G 15: 75,437,038 (GRCm39) S113P probably benign Het
Mto1 A C 9: 78,364,846 (GRCm39) T362P possibly damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Or10a3 A G 7: 108,480,172 (GRCm39) F214L probably benign Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Osbpl6 T C 2: 76,417,113 (GRCm39) F577L probably damaging Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Pld3 G A 7: 27,240,532 (GRCm39) T136M probably benign Het
Prph2 A T 17: 47,222,092 (GRCm39) D157V probably damaging Het
Racgap1 A G 15: 99,524,417 (GRCm39) S357P probably benign Het
Ralgapa1 A T 12: 55,763,856 (GRCm39) H1403Q probably benign Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sel1l2 T C 2: 140,086,085 (GRCm39) Y502C probably damaging Het
Sis A T 3: 72,820,527 (GRCm39) F1412L probably benign Het
Slc4a11 T C 2: 130,527,544 (GRCm39) E617G probably benign Het
Smap1 T C 1: 23,898,139 (GRCm39) N99S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Sox4 C T 13: 29,136,613 (GRCm39) R131Q probably damaging Het
Spaca6 T C 17: 18,058,507 (GRCm39) probably null Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tpr T A 1: 150,317,843 (GRCm39) F2117Y probably benign Het
Traf5 T C 1: 191,738,806 (GRCm39) M125V probably damaging Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Ubp1 T G 9: 113,793,712 (GRCm39) S340R probably damaging Het
Vit T C 17: 78,912,867 (GRCm39) S267P probably benign Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Zfp990 T A 4: 145,264,461 (GRCm39) H486Q probably damaging Het
Zkscan6 T C 11: 65,719,098 (GRCm39) S373P probably benign Het
Other mutations in Otc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2233:Otc UTSW X 10,169,606 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTAGTAACTGTTTCATGGAAGTGGG -3'
(R):5'- TGCTGCTATCACAGACTCATG -3'

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