Incidental Mutation 'IGL02302:Mccc2'
ID 287403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mccc2
Ensembl Gene ENSMUSG00000021646
Gene Name methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
Synonyms 4930552N12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02302
Quality Score
Status
Chromosome 13
Chromosomal Location 100085040-100152147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100090747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 462 (L462P)
Ref Sequence ENSEMBL: ENSMUSP00000022148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022148] [ENSMUST00000222083]
AlphaFold Q3ULD5
Predicted Effect probably damaging
Transcript: ENSMUST00000022148
AA Change: L462P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: L462P

DomainStartEndE-ValueType
Pfam:Carboxyl_trans 74 558 1.4e-155 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221034
Predicted Effect probably damaging
Transcript: ENSMUST00000222083
AA Change: L175P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223013
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,422,257 (GRCm39) Q211L possibly damaging Het
Abca14 T A 7: 119,917,968 (GRCm39) probably benign Het
Abcb10 A T 8: 124,685,411 (GRCm39) V543D possibly damaging Het
Ankrd17 G A 5: 90,431,057 (GRCm39) T909I probably benign Het
Arhgef3 A G 14: 27,084,799 (GRCm39) N76S probably benign Het
Bbx A T 16: 50,045,278 (GRCm39) C320S probably damaging Het
Castor2 G A 5: 134,164,482 (GRCm39) V148I possibly damaging Het
Cdh23 C A 10: 60,159,302 (GRCm39) V2159F possibly damaging Het
Cmtr2 G A 8: 110,948,136 (GRCm39) A149T probably damaging Het
Cntnap4 A G 8: 113,512,535 (GRCm39) probably benign Het
Col6a3 A T 1: 90,709,482 (GRCm39) F1905I unknown Het
Ddx60 A G 8: 62,428,866 (GRCm39) Y792C possibly damaging Het
Dennd2b A G 7: 109,124,538 (GRCm39) V1101A probably damaging Het
Dock4 T C 12: 40,775,776 (GRCm39) L573P probably damaging Het
Dop1b A G 16: 93,607,005 (GRCm39) I2103V probably benign Het
Ear1 T G 14: 44,056,504 (GRCm39) Q121H probably benign Het
Eprs1 T A 1: 185,119,321 (GRCm39) probably benign Het
Ero1a T C 14: 45,530,619 (GRCm39) K271R probably benign Het
Esyt1 A G 10: 128,348,236 (GRCm39) L884P probably damaging Het
F2r T C 13: 95,741,160 (GRCm39) N125S probably damaging Het
Fam217a T C 13: 35,095,144 (GRCm39) E357G probably damaging Het
Gabbr1 C T 17: 37,365,689 (GRCm39) R123W probably damaging Het
Gimap4 T G 6: 48,667,347 (GRCm39) V34G probably damaging Het
Gm3248 A T 14: 5,943,011 (GRCm38) V180E probably benign Het
Hecw2 A T 1: 53,972,407 (GRCm39) N204K probably damaging Het
Ighv1-84 T A 12: 115,944,549 (GRCm39) K42* probably null Het
Kcnh7 T A 2: 62,536,402 (GRCm39) Q1060L probably damaging Het
Kif3b T A 2: 153,158,868 (GRCm39) I223N probably damaging Het
Lama2 G A 10: 27,088,039 (GRCm39) P913S probably benign Het
Lgr4 A G 2: 109,832,841 (GRCm39) I334M probably damaging Het
Lrrc45 G T 11: 120,609,351 (GRCm39) E403D possibly damaging Het
Mfsd13b T C 7: 120,598,132 (GRCm39) V346A probably damaging Het
Muc6 T C 7: 141,227,763 (GRCm39) T1342A possibly damaging Het
Mxd3 T C 13: 55,477,091 (GRCm39) N56S probably benign Het
Niban2 A G 2: 32,811,135 (GRCm39) I382V probably benign Het
Ntn5 G T 7: 45,343,672 (GRCm39) R337L probably damaging Het
Nynrin A G 14: 56,105,962 (GRCm39) K894E probably benign Het
Or1j4 G T 2: 36,740,715 (GRCm39) G219V probably benign Het
Or2a25 T A 6: 42,889,272 (GRCm39) Y272N probably damaging Het
Or4f56 A C 2: 111,703,887 (GRCm39) S104R possibly damaging Het
Or7e168 A T 9: 19,719,981 (GRCm39) R122S probably damaging Het
Pappa2 T C 1: 158,542,571 (GRCm39) D1772G probably benign Het
Pcdh18 G T 3: 49,710,387 (GRCm39) F309L probably benign Het
Pcdhac2 G T 18: 37,279,006 (GRCm39) R662L probably damaging Het
Ppp5c G A 7: 16,742,555 (GRCm39) S261L possibly damaging Het
Qng1 G A 13: 58,529,749 (GRCm39) R288W probably damaging Het
Rc3h1 T C 1: 160,765,675 (GRCm39) probably benign Het
Rfx8 A C 1: 39,704,682 (GRCm39) S578A possibly damaging Het
Rhbdl3 T G 11: 80,244,507 (GRCm39) *405E probably null Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf139 G T 15: 58,770,606 (GRCm39) L210F probably damaging Het
Rragc A G 4: 123,814,879 (GRCm39) R192G possibly damaging Het
Ryr3 A T 2: 112,794,701 (GRCm39) V137E probably damaging Het
S100pbp A T 4: 129,076,234 (GRCm39) D30E probably damaging Het
Smchd1 A T 17: 71,665,128 (GRCm39) probably benign Het
Sppl3 T A 5: 115,220,390 (GRCm39) C101S probably benign Het
St8sia6 T C 2: 13,728,324 (GRCm39) T74A probably benign Het
Sult3a1 A G 10: 33,742,571 (GRCm39) N66S possibly damaging Het
Sv2b T A 7: 74,773,947 (GRCm39) K508M probably damaging Het
Terf1 T C 1: 15,903,626 (GRCm39) S275P probably damaging Het
Tmed8 G T 12: 87,220,990 (GRCm39) H199N probably damaging Het
Tubg2 A T 11: 101,046,971 (GRCm39) Q9L probably damaging Het
Ubxn4 C T 1: 128,183,848 (GRCm39) probably benign Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Zfp213 A G 17: 23,776,945 (GRCm39) S366P possibly damaging Het
Other mutations in Mccc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02073:Mccc2 APN 13 100,136,783 (GRCm39) missense probably benign
IGL02407:Mccc2 APN 13 100,127,816 (GRCm39) missense probably damaging 0.99
IGL02996:Mccc2 APN 13 100,097,487 (GRCm39) splice site probably benign
IGL03068:Mccc2 APN 13 100,100,319 (GRCm39) missense probably damaging 0.98
R0212:Mccc2 UTSW 13 100,091,163 (GRCm39) missense probably benign 0.14
R1915:Mccc2 UTSW 13 100,085,038 (GRCm39) splice site probably null
R3892:Mccc2 UTSW 13 100,104,241 (GRCm39) missense probably benign
R4823:Mccc2 UTSW 13 100,136,762 (GRCm39) missense probably benign 0.00
R6306:Mccc2 UTSW 13 100,130,085 (GRCm39) missense probably benign
R6441:Mccc2 UTSW 13 100,091,184 (GRCm39) missense probably damaging 1.00
R6914:Mccc2 UTSW 13 100,126,858 (GRCm39) missense probably damaging 1.00
R6952:Mccc2 UTSW 13 100,104,234 (GRCm39) missense probably benign 0.01
R7290:Mccc2 UTSW 13 100,091,207 (GRCm39) missense probably damaging 0.99
R7307:Mccc2 UTSW 13 100,125,108 (GRCm39) missense possibly damaging 0.95
R7319:Mccc2 UTSW 13 100,104,241 (GRCm39) missense probably benign
R7417:Mccc2 UTSW 13 100,108,285 (GRCm39) critical splice donor site probably null
R7443:Mccc2 UTSW 13 100,130,144 (GRCm39) missense possibly damaging 0.92
R8047:Mccc2 UTSW 13 100,091,181 (GRCm39) missense probably benign 0.00
R9658:Mccc2 UTSW 13 100,090,754 (GRCm39) missense probably damaging 1.00
RF017:Mccc2 UTSW 13 100,136,796 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16