Mutagenetix > Incidental Mutation

Incidental Mutation 'RF017:Mccc2'

603637

Institutional Source

Beutler Lab

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 #

RF017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100085040-100152147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100136796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 53 (V53G)

Ref Sequence

ENSEMBL: ENSMUSP00000022148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022148] [ENSMUST00000221344]

AlphaFold

Q3ULD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022148
AA Change: V53G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: V53G

Domain	Start	End	E-Value	Type
Pfam:Carboxyl_trans	74	558	1.4e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221344

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

100% (29/29)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	ACCACC	ACCACCACC	4: 132,790,062 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
AY358078	T	TAGGATAATGA	14: 52,043,050 (GRCm39)		probably null	Het
Ccdc170	CCA	CCAGCA	10: 4,511,024 (GRCm39)		probably benign	Het
Cfap251	AAGAGGAGGAAGAGGAGGGGGAGAAGGAG	AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,391,953 (GRCm39)		probably benign	Het
Cntrl	C	A	2: 35,065,201 (GRCm39)	D2168E	probably damaging	Het
Dab1	C	A	4: 104,570,849 (GRCm39)	R195S	probably benign	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT	9: 20,821,422 (GRCm39)		probably null	Het
Elp6	A	T	9: 110,148,777 (GRCm39)	H222L	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Fgf22	A	G	10: 79,592,680 (GRCm39)	H125R	probably benign	Het
Galnt18	G	A	7: 111,198,221 (GRCm39)	R180C	probably damaging	Het
Garin5a	GTCTGAGGGAGGA	GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA	7: 44,149,949 (GRCm39)		probably null	Het
Garin5a	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,149,955 (GRCm39)		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,106 (GRCm39)		probably null	Het
Gpsm1	C	A	2: 26,214,884 (GRCm39)	H288Q	probably damaging	Het
Ipo7	A	G	7: 109,648,001 (GRCm39)	I628V	probably benign	Het
Irag2	GCACATTG	GCACATTGATCACATTG	6: 145,119,510 (GRCm39)		probably benign	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Krtap28-10	CACAGC	CACAGCAACAGC	1: 83,019,859 (GRCm39)		probably benign	Het
Krtap28-10	CCACCACAGCCACAG	CCACCACAGCCACAGTCACCACAGCCACAG	1: 83,019,987 (GRCm39)		probably benign	Het
Krtap4-2	CAGCAGGGGCGGCA	C	11: 99,525,543 (GRCm39)		probably null	Het
Krtap4-9	TGCTGTGTGTCCAGCTGCTGCAG	TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG	11: 99,676,225 (GRCm39)		probably benign	Het
Larp4b	G	T	13: 9,173,946 (GRCm39)	G30V	probably benign	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA	2: 121,136,789 (GRCm39)		probably benign	Het
Meiosin	T	C	7: 18,836,354 (GRCm39)	N291S	unknown	Het
Mug1	T	A	6: 121,861,533 (GRCm39)	Y1332N	probably damaging	Het
Nalf2	GCCGCC	GCCGCCACCGCC	X: 98,864,971 (GRCm39)		probably benign	Het
Ndnf	A	G	6: 65,681,313 (GRCm39)	T531A	probably damaging	Het
Ntsr2	T	G	12: 16,709,766 (GRCm39)	V349G	probably damaging	Het
Or2g25	A	T	17: 37,970,672 (GRCm39)	I184N	probably damaging	Het
P2ry14	A	T	3: 59,022,467 (GRCm39)	I331N	probably benign	Het
Pcdha11	T	C	18: 37,138,577 (GRCm39)	S69P	possibly damaging	Het
Ptp4a2	A	G	4: 129,733,237 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,741,446 (GRCm39)	D2353G	probably benign	Het
Rasa2	GCC	GCCCCC	9: 96,513,521 (GRCm39)		probably benign	Het
Raver2	A	T	4: 100,960,195 (GRCm39)	D225V	probably damaging	Het
Rph3a	A	T	5: 121,100,562 (GRCm39)		probably null	Het
Sin3a	T	A	9: 57,034,610 (GRCm39)	V1261E	possibly damaging	Het
Slc12a9	T	A	5: 137,323,812 (GRCm39)	I368F	probably damaging	Het
Spaca1	CTCGC	CTCGCTGTCGC	4: 34,049,853 (GRCm39)		probably benign	Het
Spata31h1	AA	AACTGTCA	10: 82,126,826 (GRCm39)		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG	17: 78,984,717 (GRCm39)		probably null	Het
Ush2a	A	C	1: 187,995,666 (GRCm39)	T146P	probably damaging	Het
Usp37	A	G	1: 74,509,849 (GRCm39)	L440P	probably damaging	Het
Xpnpep1	T	A	19: 53,020,491 (GRCm39)	I24L	probably benign	Het

Other mutations in Mccc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GAGAATCTTACTTTGTAGCTGCG -3'
(R):5'- ATCTCTGGCCACACTCTCAG -3'

Sequencing Primer
(F):5'- AGCTGCGAGTTTCACAGTG -3'
(R):5'- CCATAAGTGGGAGTCCGGAGTTAC -3'

Posted On

2019-12-04