Incidental Mutation 'R7417:Mccc2'
ID 575405
Institutional Source Beutler Lab
Gene Symbol Mccc2
Ensembl Gene ENSMUSG00000021646
Gene Name methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
Synonyms 4930552N12Rik
MMRRC Submission 045495-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7417 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100085040-100152147 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 100108285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022148] [ENSMUST00000022148] [ENSMUST00000222083]
AlphaFold Q3ULD5
Predicted Effect probably null
Transcript: ENSMUST00000022148
SMART Domains Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646

DomainStartEndE-ValueType
Pfam:Carboxyl_trans 74 558 1.4e-155 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000022148
SMART Domains Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646

DomainStartEndE-ValueType
Pfam:Carboxyl_trans 74 558 1.4e-155 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000222083
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,460,057 (GRCm39) T213I probably damaging Het
Akr1b7 G A 6: 34,394,300 (GRCm39) probably null Het
Aldh6a1 T C 12: 84,488,556 (GRCm39) Q110R probably benign Het
Alg11 A T 8: 22,552,044 (GRCm39) T63S probably benign Het
Ankrd13b A G 11: 77,367,020 (GRCm39) Y271H probably damaging Het
Ano8 T A 8: 71,933,477 (GRCm39) D605V unknown Het
Best2 C T 8: 85,736,295 (GRCm39) probably null Het
Brca1 A G 11: 101,415,807 (GRCm39) S776P probably damaging Het
Capn7 T C 14: 31,092,663 (GRCm39) Y737H probably damaging Het
Cblc A T 7: 19,522,899 (GRCm39) S333T probably benign Het
Ccm2 T A 11: 6,543,091 (GRCm39) M257K probably benign Het
Cd320 T A 17: 34,066,530 (GRCm39) C103* probably null Het
Cd53 A G 3: 106,676,235 (GRCm39) F44S probably benign Het
Col9a2 G A 4: 120,911,489 (GRCm39) R610H not run Het
Cubn T C 2: 13,431,778 (GRCm39) I1272V probably benign Het
Cyp2j7 C T 4: 96,090,225 (GRCm39) probably null Het
Dmrt2 A T 19: 25,655,962 (GRCm39) R520S probably benign Het
Dnai3 A T 3: 145,798,835 (GRCm39) probably null Het
Drg2 A G 11: 60,345,506 (GRCm39) M1V probably null Het
Ect2 A G 3: 27,152,568 (GRCm39) S908P probably damaging Het
Eipr1 A G 12: 28,916,954 (GRCm39) T341A probably benign Het
Ell3 A C 2: 121,270,891 (GRCm39) I214R probably benign Het
Emsy A T 7: 98,264,693 (GRCm39) L568Q probably damaging Het
Foxd4 T C 19: 24,877,826 (GRCm39) T125A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Gcsam C A 16: 45,440,240 (GRCm39) H94Q probably damaging Het
Ginm1 T A 10: 7,649,844 (GRCm39) I150F probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hk2 G A 6: 82,720,326 (GRCm39) A205V probably damaging Het
Il3ra A T 14: 14,349,345 (GRCm38) H147L probably benign Het
Map3k6 T A 4: 132,975,707 (GRCm39) S732T probably benign Het
Masp2 A G 4: 148,690,178 (GRCm39) E229G probably benign Het
Mia3 A G 1: 183,108,508 (GRCm39) V359A Het
Mob1a A T 6: 83,309,492 (GRCm39) T80S probably benign Het
Msantd2 G A 9: 37,434,590 (GRCm39) G478S probably damaging Het
Mtf1 A G 4: 124,718,974 (GRCm39) E329G probably null Het
Myh9 T A 15: 77,648,065 (GRCm39) K1804* probably null Het
Ndst3 A G 3: 123,465,313 (GRCm39) W220R probably damaging Het
Nln A G 13: 104,173,478 (GRCm39) L576P probably damaging Het
Nlrc4 A G 17: 74,753,483 (GRCm39) M300T probably benign Het
Obscn G T 11: 59,020,403 (GRCm39) D880E possibly damaging Het
Oprd1 T C 4: 131,844,763 (GRCm39) T82A probably damaging Het
Or2n1d T A 17: 38,646,183 (GRCm39) I45N probably damaging Het
Or4f60 A C 2: 111,902,445 (GRCm39) V161G probably benign Het
Orc3 A G 4: 34,595,136 (GRCm39) C278R probably damaging Het
Pde4d T A 13: 109,769,322 (GRCm39) probably null Het
Pms1 T C 1: 53,236,231 (GRCm39) E683G probably benign Het
Prdm2 A T 4: 142,905,869 (GRCm39) Y73N probably damaging Het
Prkaa2 T C 4: 104,932,740 (GRCm39) Q36R probably benign Het
Psg22 A G 7: 18,456,891 (GRCm39) E258G probably damaging Het
Ptprf T C 4: 118,069,369 (GRCm39) D1566G probably damaging Het
Rfwd3 T A 8: 111,999,701 (GRCm39) Y759F probably benign Het
Ripor2 A G 13: 24,880,533 (GRCm39) D411G probably damaging Het
Ryr2 A C 13: 11,571,634 (GRCm39) probably null Het
Sdr42e1 T C 8: 118,389,490 (GRCm39) T384A probably benign Het
Sec1 A T 7: 45,334,149 (GRCm39) probably null Het
Sec16a A T 2: 26,311,409 (GRCm39) F616I Het
Sipa1l2 T C 8: 126,208,845 (GRCm39) D521G possibly damaging Het
Smc1b T A 15: 84,981,743 (GRCm39) Q759L probably benign Het
Snph A T 2: 151,442,263 (GRCm39) S57R probably damaging Het
Sqor A T 2: 122,629,450 (GRCm39) T103S probably benign Het
Srbd1 A G 17: 86,443,749 (GRCm39) V159A probably benign Het
Srsf2 A T 11: 116,743,727 (GRCm39) V10E probably damaging Het
Swap70 T A 7: 109,863,316 (GRCm39) probably null Het
Synm A C 7: 67,382,954 (GRCm39) *675G probably null Het
Tek A G 4: 94,699,582 (GRCm39) E320G probably benign Het
Tenm3 T C 8: 48,689,218 (GRCm39) D2123G probably damaging Het
Tmod4 A G 3: 95,033,174 (GRCm39) K56R possibly damaging Het
Top3b G A 16: 16,695,714 (GRCm39) probably benign Het
Tssc4 G T 7: 142,624,425 (GRCm39) E244D possibly damaging Het
Twnk G A 19: 44,999,003 (GRCm39) probably null Het
Ube4a A C 9: 44,868,011 (GRCm39) I45S probably benign Het
Unc79 A T 12: 103,055,017 (GRCm39) M954L possibly damaging Het
Vcpip1 A T 1: 9,816,540 (GRCm39) D614E probably benign Het
Vmn1r45 T A 6: 89,910,035 (GRCm39) I312L probably benign Het
Vmn1r77 A G 7: 11,775,611 (GRCm39) Y129C probably damaging Het
Zer1 A G 2: 29,992,834 (GRCm39) L600P probably damaging Het
Zfp266 T C 9: 20,412,232 (GRCm39) T114A probably benign Het
Zrsr2-ps1 T C 11: 22,924,662 (GRCm39) probably null Het
Other mutations in Mccc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02073:Mccc2 APN 13 100,136,783 (GRCm39) missense probably benign
IGL02302:Mccc2 APN 13 100,090,747 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTCTCACTTGAGACAAAGTTCC -3'
(R):5'- CCATCATTTGTACAGGAGTTGTGG -3'

Sequencing Primer
(F):5'- TCACTTGAGACAAAGTTCCACAATC -3'
(R):5'- ACTGGGGATAATAATCTCTCGC -3'
Posted On 2019-10-07