Incidental Mutation 'R3957:Mocs2'
ID 310779
Institutional Source Beutler Lab
Gene Symbol Mocs2
Ensembl Gene ENSMUSG00000015536
Gene Name molybdenum cofactor synthesis 2
Synonyms
MMRRC Submission 040931-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3957 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 114954707-114965956 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 114961803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015680] [ENSMUST00000164737] [ENSMUST00000164871] [ENSMUST00000165022] [ENSMUST00000166104] [ENSMUST00000184672] [ENSMUST00000166176] [ENSMUST00000184781] [ENSMUST00000183407] [ENSMUST00000184046] [ENSMUST00000184335] [ENSMUST00000184214] [ENSMUST00000184245]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015680
AA Change: Y95N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536
AA Change: Y95N

DomainStartEndE-ValueType
Pfam:MoaE 49 161 7.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050131
Predicted Effect probably null
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 benign
Transcript: ENSMUST00000165022
SMART Domains Protein: ENSMUSP00000128965
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165669
Predicted Effect probably benign
Transcript: ENSMUST00000166104
SMART Domains Protein: ENSMUSP00000129021
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184672
AA Change: Y95N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536
AA Change: Y95N

DomainStartEndE-ValueType
Pfam:MoaE 46 162 5.8e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166176
AA Change: Y95N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536
AA Change: Y95N

DomainStartEndE-ValueType
Pfam:MoaE 46 162 5.8e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170985
Predicted Effect probably benign
Transcript: ENSMUST00000184781
SMART Domains Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183407
SMART Domains Protein: ENSMUSP00000139011
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184046
Predicted Effect probably benign
Transcript: ENSMUST00000184335
SMART Domains Protein: ENSMUSP00000139064
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184214
SMART Domains Protein: ENSMUSP00000139285
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184245
SMART Domains Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536

DomainStartEndE-ValueType
Pfam:ThiS 9 88 1.1e-19 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Acsm4 A T 7: 119,302,588 (GRCm39) M238L possibly damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Atp13a5 T A 16: 29,117,012 (GRCm39) I579L probably benign Het
Canx A G 11: 50,199,210 (GRCm39) V153A probably damaging Het
Cdan1 A G 2: 120,556,113 (GRCm39) Y718H probably damaging Het
Cdan1 G A 2: 120,561,501 (GRCm39) probably benign Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Dach1 T C 14: 98,077,545 (GRCm39) T561A probably damaging Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dhx29 C T 13: 113,067,455 (GRCm39) A112V probably benign Het
Fanca G A 8: 124,043,102 (GRCm39) R95C probably benign Het
Fat4 C A 3: 39,036,495 (GRCm39) N3382K probably benign Het
Fkbp15 A C 4: 62,252,489 (GRCm39) F290L probably benign Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Ighv3-4 T A 12: 114,217,300 (GRCm39) Q97L probably damaging Het
Igkv15-103 A T 6: 68,414,903 (GRCm39) Y114F probably benign Het
Kera G A 10: 97,448,707 (GRCm39) R309H probably benign Het
Kif1a T A 1: 92,953,416 (GRCm39) H1256L probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lmx1b T C 2: 33,459,106 (GRCm39) E149G probably damaging Het
Me2 A G 18: 73,914,203 (GRCm39) F443L probably damaging Het
Med12l T A 3: 58,980,589 (GRCm39) S307R probably damaging Het
Mettl25b T C 3: 87,834,135 (GRCm39) K116R possibly damaging Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5d43 A G 2: 88,105,348 (GRCm39) F15S probably damaging Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Pan2 C T 10: 128,151,046 (GRCm39) R806C probably damaging Het
Plod3 A T 5: 137,023,046 (GRCm39) H616L probably damaging Het
Plxnb3 T C X: 72,814,826 (GRCm39) V1789A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tdrkh A G 3: 94,335,556 (GRCm39) N383S probably damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Trub1 G A 19: 57,473,798 (GRCm39) A239T possibly damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Unc13b A G 4: 43,256,834 (GRCm39) Y3962C probably damaging Het
Usp3 T C 9: 66,469,873 (GRCm39) T83A probably benign Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Zmym6 T C 4: 127,017,089 (GRCm39) S957P possibly damaging Het
Zmynd8 T C 2: 165,654,395 (GRCm39) T722A probably damaging 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
R3881:Mocs2 UTSW 13 114,955,882 (GRCm39) nonsense 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 PCR Primer
(F):5'- ATGCTGTCAGGAAGCTTGCTTAG -3'
(R):5'- TCAAGGTGAATGCTGGACGC -3'

Sequencing Primer
(F):5'- ATCATCTTGGAGCAATTCTTGTTTG -3'
(R):5'- TGGACGCACTCTCCACTG -3'
Posted On 2015-04-29