Incidental Mutation 'R3881:Mocs2'
ID 474433
Institutional Source Beutler Lab
Gene Symbol Mocs2
Ensembl Gene ENSMUSG00000015536
Gene Name molybdenum cofactor synthesis 2
Synonyms
MMRRC Submission 040795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3881 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 114954707-114965956 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 114955882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 10 (L10*)
Ref Sequence ENSEMBL: ENSMUSP00000138856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015680] [ENSMUST00000164737] [ENSMUST00000164871] [ENSMUST00000165022] [ENSMUST00000183407] [ENSMUST00000166104] [ENSMUST00000184214] [ENSMUST00000184245] [ENSMUST00000184335] [ENSMUST00000184781] [ENSMUST00000166176] [ENSMUST00000184672] [ENSMUST00000184046]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015680
SMART Domains Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:MoaE 49 161 7.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050131
Predicted Effect probably benign
Transcript: ENSMUST00000164737
SMART Domains Protein: ENSMUSP00000133069
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:MoaE 46 97 3.1e-12 PFAM
Pfam:MoaE 94 130 7.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164871
SMART Domains Protein: ENSMUSP00000131816
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
PDB:4AP8|D 38 75 1e-14 PDB
SCOP:d1fm0e_ 44 75 1e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165022
AA Change: L10*
SMART Domains Protein: ENSMUSP00000128965
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165669
Predicted Effect probably null
Transcript: ENSMUST00000183407
AA Change: L10*
SMART Domains Protein: ENSMUSP00000139011
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166104
AA Change: L10*
SMART Domains Protein: ENSMUSP00000129021
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184214
AA Change: L10*
SMART Domains Protein: ENSMUSP00000139285
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184245
AA Change: L10*
SMART Domains Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184335
AA Change: L10*
SMART Domains Protein: ENSMUSP00000139064
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184781
AA Change: L10*
SMART Domains Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536
AA Change: L10*

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184282
Predicted Effect probably benign
Transcript: ENSMUST00000166176
SMART Domains Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:MoaE 46 162 5.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184672
SMART Domains Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:MoaE 46 162 5.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184046
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. Based on experiments with the human molybdopterin synthase ortholog, they are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show inactivity of all molybdenum-dependent enzymes, slow weight gain, weakness, curly whiskers, hair growth and skin abnormalities, altered levels of purines, uric acid and S-sulfocysteine, bladder and kidney stone formation, increased neuronal apoptosis, and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik T G 19: 4,548,417 (GRCm39) K44T possibly damaging Het
4933402N03Rik T C 7: 130,740,823 (GRCm39) E131G probably benign Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Cep41 A G 6: 30,658,397 (GRCm39) S201P probably damaging Het
Cep95 A G 11: 106,697,118 (GRCm39) I257V probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cyfip2 A G 11: 46,099,162 (GRCm39) L716P probably damaging Het
Cyp2d34 T A 15: 82,502,818 (GRCm39) Q136L probably benign Het
Def6 T C 17: 28,439,189 (GRCm39) C267R probably damaging Het
Dgat2 G A 7: 98,818,950 (GRCm39) Q69* probably null Het
Dlgap1 T A 17: 71,093,810 (GRCm39) S710R probably damaging Het
Dnah10 T C 5: 124,850,095 (GRCm39) I1539T probably benign Het
Dnah2 T A 11: 69,342,173 (GRCm39) I2932F possibly damaging Het
Enpp2 A G 15: 54,783,088 (GRCm39) S76P probably damaging Het
Esr2 T C 12: 76,214,394 (GRCm39) D19G probably damaging Het
Fam13b A T 18: 34,595,112 (GRCm39) probably null Het
Fbxw14 A T 9: 109,100,262 (GRCm39) V464D possibly damaging Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Gm21961 A G 15: 64,886,716 (GRCm39) probably null Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hps5 A G 7: 46,421,420 (GRCm39) V648A possibly damaging Het
Ints4 A G 7: 97,165,464 (GRCm39) T517A possibly damaging Het
Itpr3 A G 17: 27,332,814 (GRCm39) N1860S probably benign Het
Itsn2 G A 12: 4,684,546 (GRCm39) probably benign Het
Jup A G 11: 100,269,207 (GRCm39) V402A probably benign Het
Letm2 C A 8: 26,083,884 (GRCm39) E116* probably null Het
Ly6c1 T C 15: 74,917,436 (GRCm39) T71A probably benign Het
Mcm3ap G A 10: 76,342,280 (GRCm39) S1591N probably benign Het
Mier2 C T 10: 79,384,584 (GRCm39) probably null Het
Myo6 A G 9: 80,171,538 (GRCm39) D513G probably damaging Het
Myoz2 T C 3: 122,807,369 (GRCm39) Y147C probably damaging Het
Nin C T 12: 70,089,315 (GRCm39) V1367M probably benign Het
Nr2f6 C T 8: 71,828,675 (GRCm39) A200T probably damaging Het
Obscn C T 11: 58,947,775 (GRCm39) C4418Y probably damaging Het
Or10ak9 A G 4: 118,726,550 (GRCm39) M191V probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or5g26 T A 2: 85,494,769 (GRCm39) H3L probably benign Het
Paxip1 C T 5: 27,953,837 (GRCm39) R953Q probably damaging Het
Pcdha1 A T 18: 37,064,454 (GRCm39) I373F possibly damaging Het
Pcdha7 G A 18: 37,108,432 (GRCm39) E486K probably benign Het
Recql5 G A 11: 115,784,780 (GRCm39) P849L probably benign Het
Recql5 G T 11: 115,784,781 (GRCm39) P849T probably benign Het
Rnf180 A T 13: 105,386,915 (GRCm39) M131K possibly damaging Het
Rplp1 A G 9: 61,821,704 (GRCm39) S3P probably benign Het
Rpp38 T A 2: 3,330,283 (GRCm39) R206S probably benign Het
Sdha G T 13: 74,487,311 (GRCm39) P159Q probably damaging Het
Shank2 T C 7: 143,959,121 (GRCm39) V199A probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Timm50 C A 7: 28,010,432 (GRCm39) A41S probably benign Het
Tmbim1 A G 1: 74,329,157 (GRCm39) probably benign Het
Tmprss11a C T 5: 86,593,664 (GRCm39) V29M possibly damaging Het
Ttc28 A T 5: 111,331,106 (GRCm39) H411L probably damaging Het
Ube4b A T 4: 149,449,861 (GRCm39) probably null Het
Zdhhc22 T A 12: 87,030,400 (GRCm39) M183L probably benign Het
Zfp106 A G 2: 120,362,630 (GRCm39) S830P probably benign Het
Other mutations in Mocs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1605:Mocs2 UTSW 13 114,961,120 (GRCm39) missense probably benign 0.03
R1623:Mocs2 UTSW 13 114,961,158 (GRCm39) missense probably benign 0.02
R3957:Mocs2 UTSW 13 114,961,803 (GRCm39) critical splice donor site probably null
R4015:Mocs2 UTSW 13 114,957,334 (GRCm39) splice site probably benign
R5765:Mocs2 UTSW 13 114,962,692 (GRCm39) critical splice acceptor site probably null
R5781:Mocs2 UTSW 13 114,957,455 (GRCm39) missense probably damaging 1.00
R6750:Mocs2 UTSW 13 114,962,784 (GRCm39) missense probably damaging 0.98
R6829:Mocs2 UTSW 13 114,955,980 (GRCm39) missense probably benign 0.01
R7157:Mocs2 UTSW 13 114,961,143 (GRCm39) missense probably benign 0.11
R7346:Mocs2 UTSW 13 114,964,710 (GRCm39) splice site probably null
R7428:Mocs2 UTSW 13 114,957,400 (GRCm39) missense probably benign 0.20
R7817:Mocs2 UTSW 13 114,957,382 (GRCm39) missense probably damaging 1.00
R8007:Mocs2 UTSW 13 114,957,409 (GRCm39) missense possibly damaging 0.57
R8836:Mocs2 UTSW 13 114,961,760 (GRCm39) missense possibly damaging 0.51
R8863:Mocs2 UTSW 13 114,962,815 (GRCm39) missense probably damaging 1.00
R9445:Mocs2 UTSW 13 114,961,879 (GRCm39) missense possibly damaging 0.82
Predicted Primers
Posted On 2017-04-14