Mutagenetix > Incidental Mutation

Incidental Mutation 'R8047:Mccc2'

618830

Institutional Source

Beutler Lab

Gene Symbol

Mccc2

Ensembl Gene

ENSMUSG00000021646

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 2 (beta)

Synonyms

4930552N12Rik

MMRRC Submission

067484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100085040-100152147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100091181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 439 (V439I)

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: V439I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: V439I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222083
AA Change: V152I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,427,817 (GRCm39)	T157I	possibly damaging	Het
Cd200l2	T	C	16: 45,340,829 (GRCm39)	I245V	probably benign	Het
Cdh22	G	A	2: 165,012,687 (GRCm39)	R133W	probably damaging	Het
Cep152	A	T	2: 125,406,247 (GRCm39)	N1428K	probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Coch	G	A	12: 51,650,496 (GRCm39)		probably null	Het
D6Ertd527e	G	T	6: 87,088,454 (GRCm39)	V206F	unknown	Het
Dnaaf9	A	T	2: 130,617,019 (GRCm39)	V439E	probably damaging	Het
Dock3	T	C	9: 106,870,208 (GRCm39)	I625M	possibly damaging	Het
Dpy19l4	A	G	4: 11,317,139 (GRCm39)	S20P	probably benign	Het
Eef1e1	T	C	13: 38,830,222 (GRCm39)	Q150R	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Engase	T	C	11: 118,377,282 (GRCm39)	S526P	probably benign	Het
Fbxo40	T	A	16: 36,790,231 (GRCm39)	D293V	probably damaging	Het
Gipc3	T	A	10: 81,177,132 (GRCm39)	N146I	probably damaging	Het
Gm11569	T	C	11: 99,689,616 (GRCm39)	T28A	unknown	Het
Gm43302	T	C	5: 105,422,623 (GRCm39)	I470V	possibly damaging	Het
Gpihbp1	A	G	15: 75,469,627 (GRCm39)	Q114R	possibly damaging	Het
Grhl2	T	A	15: 37,336,465 (GRCm39)	M454K	probably benign	Het
Gsap	A	T	5: 21,462,866 (GRCm39)		probably null	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Kif1b	C	A	4: 149,299,379 (GRCm39)	V1010L	probably damaging	Het
Krt8	A	T	15: 101,912,406 (GRCm39)	I90N	probably damaging	Het
Lrrc69	A	T	4: 14,773,726 (GRCm39)	I110N	probably benign	Het
Lta	T	C	17: 35,423,011 (GRCm39)	Y104C	probably damaging	Het
Madd	A	G	2: 91,009,546 (GRCm39)	Y13H	probably damaging	Het
Mecom	T	A	3: 30,292,404 (GRCm39)	D35V		Het
Msra	C	T	14: 64,522,612 (GRCm39)	A76T	probably damaging	Het
Myo18b	G	T	5: 112,871,681 (GRCm39)	D2133E	possibly damaging	Het
Ncapd2	C	T	6: 125,166,762 (GRCm39)	V31M	probably damaging	Het
Npc1	A	G	18: 12,346,374 (GRCm39)	V274A	probably benign	Het
Or5m11b	T	C	2: 85,806,271 (GRCm39)	I228T	possibly damaging	Het
Patz1	C	T	11: 3,256,283 (GRCm39)	P523L	probably benign	Het
Pbx2	T	C	17: 34,814,262 (GRCm39)	S350P	probably benign	Het
Plk4	T	C	3: 40,760,187 (GRCm39)	I361T	probably benign	Het
Ppat	G	T	5: 77,073,557 (GRCm39)	N122K	probably damaging	Het
Prss23	T	A	7: 89,159,136 (GRCm39)	Q311L	probably damaging	Het
Psg26	G	T	7: 18,212,474 (GRCm39)	Q294K	possibly damaging	Het
Rab3il1	G	T	19: 10,011,166 (GRCm39)	R285L	probably benign	Het
Radil	A	G	5: 142,480,695 (GRCm39)	C587R	probably damaging	Het
Rd3	A	T	1: 191,709,620 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,927,221 (GRCm39)	L504P	probably damaging	Het
Rmc1	C	T	18: 12,313,586 (GRCm39)	T233M	possibly damaging	Het
Selenov	A	C	7: 27,990,108 (GRCm39)	L132R	probably benign	Het
Spag16	A	T	1: 69,882,155 (GRCm39)	D49V	probably damaging	Het
Ston2	C	T	12: 91,608,617 (GRCm39)	V828I	probably damaging	Het
Tiam1	A	G	16: 89,694,672 (GRCm39)	S262P	probably benign	Het
Tlnrd1	A	T	7: 83,532,069 (GRCm39)	S121T	probably damaging	Het
Unc13c	T	A	9: 73,719,636 (GRCm39)	K1011*	probably null	Het
Vmn2r89	T	A	14: 51,692,549 (GRCm39)	D117E	probably benign	Het
Zbtb7c	A	C	18: 76,270,221 (GRCm39)	N103T	probably damaging	Het
Zfp764	T	C	7: 127,005,412 (GRCm39)	E75G	probably damaging	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
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'- GTCATTTTACACCCCAAACCTGG -3'
(R):5'- CAGTACCTTGGTGGGATTGAC -3'

Sequencing Primer
(F):5'- TAGACATGACCCTCTGGAGTAGC -3'
(R):5'- GATTGACTTCTGTATGTGCATCCGC -3'

Posted On

2020-01-23