Mutagenetix > Incidental Mutation

Incidental Mutation 'R9658:Mccc2'

735561

Institutional Source

Beutler Lab

Gene Symbol

Mccc2

Ensembl Gene

ENSMUSG00000021646

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 2 (beta)

Synonyms

4930552N12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100085040-100152147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100090754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 460 (R460W)

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: R460W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: R460W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222083
AA Change: R173W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,600,401 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,325,634 (GRCm39)	I1521M	probably damaging	Het
Abcc3	A	G	11: 94,263,703 (GRCm39)	S268P	possibly damaging	Het
Adamts20	G	C	15: 94,249,626 (GRCm39)	P464A	probably damaging	Het
Apoa1	C	A	9: 46,141,280 (GRCm39)	D125E	probably benign	Het
Atp6v0a1	C	A	11: 100,909,414 (GRCm39)	Q48K	probably benign	Het
Bptf	T	C	11: 107,002,170 (GRCm39)	N314S	probably damaging	Het
Cdh20	T	C	1: 109,988,785 (GRCm39)	V229A	probably damaging	Het
Cfap46	G	A	7: 139,246,229 (GRCm39)	T378M		Het
Clca3b	T	A	3: 144,543,575 (GRCm39)	D418V	probably damaging	Het
Dennd4c	T	A	4: 86,754,625 (GRCm39)	L1545*	probably null	Het
Dnajc13	A	G	9: 104,115,728 (GRCm39)	V27A	probably benign	Het
Efcab3	A	G	11: 104,611,120 (GRCm39)	K321E	probably benign	Het
Eif2ak2	A	T	17: 79,183,632 (GRCm39)	D72E	probably benign	Het
Eif2ak4	T	C	2: 118,269,511 (GRCm39)	I862T	probably damaging	Het
Eif4g1	T	C	16: 20,502,863 (GRCm39)	I1022T	probably benign	Het
Enpp3	A	T	10: 24,649,802 (GRCm39)	*875R	probably null	Het
F11	T	C	8: 45,698,671 (GRCm39)	Y491C	probably damaging	Het
Fam98c	A	C	7: 28,852,206 (GRCm39)	W118G	probably damaging	Het
Fbxo43	A	T	15: 36,152,282 (GRCm39)	L509Q	probably damaging	Het
Fbxw5	A	G	2: 25,393,870 (GRCm39)	H366R	probably damaging	Het
Flt1	G	T	5: 147,525,377 (GRCm39)	N920K	probably damaging	Het
Git1	T	A	11: 77,390,581 (GRCm39)	F106I	probably damaging	Het
Glipr1l2	A	G	10: 111,942,868 (GRCm39)	E241G	probably damaging	Het
Gm2381	A	C	7: 42,469,729 (GRCm39)	C132G	probably damaging	Het
Gm49383	A	G	12: 69,239,628 (GRCm39)	I237T		Het
Gm7324	T	A	14: 43,952,282 (GRCm39)	D308E	probably benign	Het
Gpr17	A	G	18: 32,080,421 (GRCm39)	L214P	probably damaging	Het
Gtf3c1	A	T	7: 125,306,734 (GRCm39)	L39Q	probably damaging	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hcar2	T	C	5: 124,002,532 (GRCm39)	T324A	possibly damaging	Het
Ksr2	T	C	5: 117,885,425 (GRCm39)	S750P	probably damaging	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Map4k3	C	A	17: 80,961,306 (GRCm39)	M133I	probably benign	Het
Marf1	A	T	16: 13,958,087 (GRCm39)	L805Q	probably damaging	Het
Mgam	A	G	6: 40,721,311 (GRCm39)	D312G	possibly damaging	Het
Nadk2	A	T	15: 9,103,449 (GRCm39)	K360*	probably null	Het
Nalf1	T	C	8: 9,820,114 (GRCm39)	D302G	probably benign	Het
Nars2	A	G	7: 96,689,178 (GRCm39)	I367V	probably benign	Het
Nppb	T	C	4: 148,070,951 (GRCm39)	S109P	possibly damaging	Het
Odf2	G	A	2: 29,779,813 (GRCm39)	R15Q	probably benign	Het
Or4f59	C	A	2: 111,872,823 (GRCm39)	A185S	probably damaging	Het
Or51l4	C	T	7: 103,404,028 (GRCm39)	V255M	probably damaging	Het
Or5ac25	A	T	16: 59,182,106 (GRCm39)	H158Q	probably damaging	Het
Osbpl1a	A	T	18: 12,889,269 (GRCm39)	I949N	probably benign	Het
Pan3	T	C	5: 147,479,881 (GRCm39)	F55L	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Pdxk	T	C	10: 78,287,403 (GRCm39)	K53E	probably benign	Het
Pja2	A	G	17: 64,599,868 (GRCm39)	S539P	probably damaging	Het
Plscr1	T	A	9: 92,148,535 (GRCm39)	C158*	probably null	Het
Prdm14	T	C	1: 13,189,145 (GRCm39)	T400A	probably benign	Het
Rag1	C	T	2: 101,473,229 (GRCm39)	V638M	possibly damaging	Het
Ros1	A	G	10: 51,967,069 (GRCm39)	S1734P	probably damaging	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
Shisa9	A	T	16: 12,062,520 (GRCm39)	Q247L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc27a4	G	A	2: 29,701,301 (GRCm39)	R364Q	probably damaging	Het
Spag17	C	T	3: 99,934,932 (GRCm39)	P713S	possibly damaging	Het
Tbc1d4	T	A	14: 101,845,856 (GRCm39)	H14L	probably damaging	Het
Tmem144	T	A	3: 79,729,991 (GRCm39)	Y253F	probably damaging	Het
Tmem204	C	T	17: 25,299,322 (GRCm39)	G66R	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,942,424 (GRCm39)	V453E	probably damaging	Het
Tns1	G	C	1: 73,981,182 (GRCm39)	Q1061E	probably benign	Het
Tns1	G	T	1: 73,981,183 (GRCm39)	N1060K	probably benign	Het
Trav5-1	A	G	14: 52,860,428 (GRCm39)	K78E	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Uvssa	T	C	5: 33,568,333 (GRCm39)	C574R	probably damaging	Het
Veph1	G	A	3: 66,171,434 (GRCm39)	Q3*	probably null	Het
Vps13b	T	A	15: 35,623,774 (GRCm39)	D1230E	probably benign	Het
Xkr9	T	A	1: 13,771,318 (GRCm39)	I278N	probably damaging	Het
Zbed4	C	A	15: 88,664,742 (GRCm39)	A270E	probably benign	Het
Zfp366	A	T	13: 99,365,435 (GRCm39)	T199S	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
RF017:Mccc2	UTSW	13	100,136,796 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGACACACAGGTAGCTTG -3'
(R):5'- CGGAATGTGTGGCAGAGCATAC -3'

Sequencing Primer
(F):5'- ACACAGGTAGCTTGGGTGCTC -3'
(R):5'- ACTCCAGAGGGTCATGTCTAC -3'

Posted On

2022-11-14