Mutagenetix > Incidental Mutation

Incidental Mutation 'R6952:Mccc2'

543298

Institutional Source

Beutler Lab

Gene Symbol

Mccc2

Ensembl Gene

ENSMUSG00000021646

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 2 (beta)

Synonyms

4930552N12Rik

MMRRC Submission

045064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100085040-100152147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100104234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 305 (E305G)

Ref Sequence

ENSEMBL: ENSMUSP00000022148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022148] [ENSMUST00000222083]

AlphaFold

Q3ULD5

Predicted Effect

probably benign
Transcript: ENSMUST00000022148
AA Change: E305G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: E305G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222083

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,368,484 (GRCm39)		probably null	Het
Acap1	C	A	11: 69,776,343 (GRCm39)	V219L	probably benign	Het
Arpp21	G	A	9: 111,955,550 (GRCm39)	P530S	probably damaging	Het
Atp6v1b1	T	C	6: 83,731,792 (GRCm39)	V224A	probably damaging	Het
Brd3	T	C	2: 27,344,371 (GRCm39)	D453G	probably damaging	Het
Btbd10	A	T	7: 112,951,150 (GRCm39)		probably null	Het
Ccdc148	T	C	2: 58,713,657 (GRCm39)	H498R	probably damaging	Het
Cga	A	T	4: 34,905,171 (GRCm39)	Y65F	possibly damaging	Het
Chd7	A	T	4: 8,856,797 (GRCm39)	H136L	probably damaging	Het
Chit1	T	C	1: 134,071,022 (GRCm39)	Y34H	probably damaging	Het
Cimap2	C	G	4: 106,467,596 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnhd1	T	G	7: 105,362,895 (GRCm39)	V3819G	probably damaging	Het
Dsg3	A	T	18: 20,658,216 (GRCm39)	I276F	possibly damaging	Het
Dusp1	T	C	17: 26,726,577 (GRCm39)	S162G	probably benign	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Gga2	C	A	7: 121,598,111 (GRCm39)	A328S	probably benign	Het
Gpr183	A	G	14: 122,191,897 (GRCm39)	I208T	possibly damaging	Het
Haspin	T	C	11: 73,026,971 (GRCm39)	D706G	possibly damaging	Het
Hdac5	T	C	11: 102,095,786 (GRCm39)	I338V	probably benign	Het
Ik	C	T	18: 36,886,613 (GRCm39)	R362C	probably damaging	Het
Kdm4c	T	G	4: 74,275,587 (GRCm39)	C754W	probably damaging	Het
Limk1	T	A	5: 134,699,332 (GRCm39)	I142F	possibly damaging	Het
Mdm1	A	G	10: 118,003,962 (GRCm39)	D639G	probably damaging	Het
Mefv	T	G	16: 3,528,744 (GRCm39)	T566P	probably damaging	Het
Mep1b	G	A	18: 21,221,727 (GRCm39)	V226I	probably benign	Het
Mgmt	T	C	7: 136,553,064 (GRCm39)	M19T	probably benign	Het
Mrgpra6	A	T	7: 46,835,693 (GRCm39)	S243T	probably benign	Het
Myh7	C	T	14: 55,229,197 (GRCm39)	R169Q	probably damaging	Het
Myo1b	T	C	1: 51,801,668 (GRCm39)	I917V	probably damaging	Het
Or4a80	A	T	2: 89,582,971 (GRCm39)	M67K	possibly damaging	Het
Phlpp1	T	C	1: 106,100,209 (GRCm39)	L159P	probably benign	Het
Plekhh3	T	C	11: 101,056,482 (GRCm39)	E371G	probably damaging	Het
Rps6ka2	C	A	17: 7,495,377 (GRCm39)	D21E	probably benign	Het
Slc47a1	T	A	11: 61,235,280 (GRCm39)	M518L	probably benign	Het
Slitrk6	T	C	14: 110,987,974 (GRCm39)	T578A	probably benign	Het
Syne2	A	T	12: 75,974,205 (GRCm39)	K1133N	possibly damaging	Het
Taco1	T	C	11: 105,963,942 (GRCm39)	S234P	probably benign	Het
Trpv4	G	A	5: 114,771,263 (GRCm39)	S422F	probably damaging	Het
Tvp23b	T	A	11: 62,775,952 (GRCm39)	D97E	possibly damaging	Het
Vmn1r37	A	T	6: 66,708,523 (GRCm39)	I13L	probably benign	Het
Vrk2	T	A	11: 26,485,597 (GRCm39)	K130N	probably damaging	Het
Wdfy4	C	T	14: 32,681,923 (GRCm39)	R3016Q	probably damaging	Het
Zfp383	T	C	7: 29,614,380 (GRCm39)	S212P	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCTCTCCTGGATGTCAC -3'
(R):5'- ACTCTGCAGAAAGTCTGGGG -3'

Sequencing Primer
(F):5'- GGATGTCACCACTCCTTACTAAG -3'
(R):5'- GACCACTATGCTTTGGACGAC -3'

Posted On

2018-11-28