Mutagenetix > Incidental Mutation

Incidental Mutation 'R6914:Mccc2'

539249

Institutional Source

Beutler Lab

Gene Symbol

Mccc2

Ensembl Gene

ENSMUSG00000021646

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 2 (beta)

Synonyms

4930552N12Rik

MMRRC Submission

045035-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100085040-100152147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100126858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 137 (D137Y)

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: D137Y

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

SMART Domains

Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: D137Y

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,061,298 (GRCm39)	K17*	probably null	Het
Abca6	T	C	11: 110,081,064 (GRCm39)	I1183V	probably benign	Het
Adap2	A	G	11: 80,045,891 (GRCm39)	D57G	probably benign	Het
Atmin	G	T	8: 117,683,452 (GRCm39)	V371F	probably benign	Het
Cacna1h	G	T	17: 25,604,013 (GRCm39)	A1273E	probably benign	Het
Cblb	G	A	16: 51,867,793 (GRCm39)	E134K	probably damaging	Het
Ccdc158	A	G	5: 92,809,929 (GRCm39)	V193A	probably benign	Het
Cnot9	T	A	1: 74,558,154 (GRCm39)	V100E	probably damaging	Het
Cog2	T	A	8: 125,271,875 (GRCm39)	V463D	probably benign	Het
Cracd	A	T	5: 77,004,854 (GRCm39)	Q405L	unknown	Het
Crybg3	C	T	16: 59,360,183 (GRCm39)	R2500H	possibly damaging	Het
Csmd3	C	A	15: 47,874,534 (GRCm39)	R687S	possibly damaging	Het
Derl3	A	G	10: 75,730,050 (GRCm39)		probably null	Het
Dipk1c	A	C	18: 84,748,549 (GRCm39)	Y49S	possibly damaging	Het
Dlc1	T	C	8: 37,405,364 (GRCm39)	K142E	probably benign	Het
Dnai1	T	G	4: 41,625,176 (GRCm39)	M380R	probably benign	Het
Gas7	A	T	11: 67,550,977 (GRCm39)		probably null	Het
Gpt	C	A	15: 76,581,792 (GRCm39)	Q138K	probably benign	Het
Greb1	T	A	12: 16,757,903 (GRCm39)	E748V	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hecw1	A	C	13: 14,491,423 (GRCm39)	L523R	probably damaging	Het
Hhatl	G	A	9: 121,617,246 (GRCm39)	A329V	probably benign	Het
Homer3	C	T	8: 70,744,201 (GRCm39)	T276I	probably benign	Het
Igdcc4	G	A	9: 65,027,550 (GRCm39)	S204N	probably benign	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Nup42	T	A	5: 24,386,082 (GRCm39)	S205T	probably damaging	Het
Pde8b	T	A	13: 95,223,352 (GRCm39)	M301L	probably benign	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pom121	A	T	5: 135,407,011 (GRCm39)	F1175I	probably damaging	Het
Prom2	T	G	2: 127,372,295 (GRCm39)	I723L	possibly damaging	Het
Pth1r	C	T	9: 110,557,084 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,221 (GRCm39)	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 32,871,564 (GRCm39)	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,080,519 (GRCm39)	V906L	probably benign	Het
Sipa1l3	T	C	7: 29,085,516 (GRCm39)	T694A	probably damaging	Het
Slc26a2	A	C	18: 61,332,351 (GRCm39)	I360S	probably damaging	Het
Slc8a1	A	G	17: 81,715,549 (GRCm39)	L828P	probably damaging	Het
Spry1	T	A	3: 37,697,193 (GRCm39)	D145E	probably benign	Het
Stat6	A	T	10: 127,487,131 (GRCm39)	N213Y	probably damaging	Het
Tbx20	T	C	9: 24,636,779 (GRCm39)	H436R	probably benign	Het
Tle2	T	C	10: 81,422,190 (GRCm39)	Y411H	probably damaging	Het
Tmem45a	T	C	16: 56,646,145 (GRCm39)	N25S	probably benign	Het
Trip11	T	C	12: 101,812,879 (GRCm39)	N1485S	probably benign	Het
Trrap	T	A	5: 144,720,853 (GRCm39)	I230N	possibly damaging	Het
Vezt	A	T	10: 93,806,313 (GRCm39)	H699Q	probably benign	Het
Vmn1r43	T	A	6: 89,847,319 (GRCm39)	I56F	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
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
RF017:Mccc2	UTSW	13	100,136,796 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCACAGACTTCCACTCAG -3'
(R):5'- TTACATCCTGACTGCATGCC -3'

Sequencing Primer
(F):5'- GCCTTCCATTTTACCAGCTAAAACAG -3'
(R):5'- TCTGCTATCCTCATAGACAGGAG -3'

Posted On

2018-11-06