Mutagenetix > Incidental Mutation

Incidental Mutation 'R4574:Pccb'

342343

Institutional Source

Beutler Lab

Gene Symbol

Pccb

Ensembl Gene

ENSMUSG00000032527

Gene Name

propionyl Coenzyme A carboxylase, beta polypeptide

Synonyms

1300012P06Rik

MMRRC Submission

041797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100864085-100916951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100867252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 445 (S445G)

Ref Sequence

ENSEMBL: ENSMUSP00000035116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000149322]

AlphaFold

Q99MN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035116
AA Change: S445G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: S445G

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Carboxyl_trans	59	539	6.2e-197	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149322
AA Change: S408G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: S408G

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Carboxyl_trans	59	187	2.3e-45	PFAM
Pfam:Carboxyl_trans	183	502	2.7e-127	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149998

Meta Mutation Damage Score

0.2734

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Adamts9	G	A	6: 92,856,940 (GRCm39)	R319*	probably null	Het
Anapc1	G	T	2: 128,469,115 (GRCm39)	S1575R	probably damaging	Het
Appbp2	A	T	11: 85,100,764 (GRCm39)		probably null	Het
Bcas2	C	T	3: 103,081,666 (GRCm39)	P90S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd101	T	C	3: 100,920,469 (GRCm39)	N477D	probably benign	Het
Cdk12	A	G	11: 98,111,814 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,290,804 (GRCm39)	E634G	probably benign	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cpt1b	G	T	15: 89,308,247 (GRCm39)		probably null	Het
Ctf2	T	G	7: 127,318,556 (GRCm39)	T148P	possibly damaging	Het
Ddx23	G	A	15: 98,545,505 (GRCm39)	T601I	probably damaging	Het
Dlx6	G	T	6: 6,865,305 (GRCm39)		probably benign	Het
Dmrtb1	A	T	4: 107,534,265 (GRCm39)	N183K	possibly damaging	Het
Dnah11	A	G	12: 117,975,990 (GRCm39)		probably null	Het
Dnah5	C	T	15: 28,367,909 (GRCm39)	P2765S	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Fpr-rs6	T	A	17: 20,403,359 (GRCm39)	M1L	probably damaging	Het
Gm4841	T	C	18: 60,402,998 (GRCm39)	N365S	probably benign	Het
Gsdmc2	C	T	15: 63,699,872 (GRCm39)		probably null	Het
Irx5	G	A	8: 93,084,890 (GRCm39)	V27I	probably damaging	Het
Kmt2e	T	A	5: 23,697,405 (GRCm39)	V101D	possibly damaging	Het
Maip1	A	C	1: 57,452,404 (GRCm39)	K219Q	possibly damaging	Het
Mpp7	G	T	18: 7,353,228 (GRCm39)	R493S	probably benign	Het
Ms4a14	T	C	19: 11,281,335 (GRCm39)	T408A	probably benign	Het
Mthfr	A	G	4: 148,127,998 (GRCm39)	N117S	possibly damaging	Het
Mtres1	T	A	10: 43,409,006 (GRCm39)	S46C	probably damaging	Het
Myo5c	A	G	9: 75,176,893 (GRCm39)	I613V	probably benign	Het
Neurl1b	A	G	17: 26,650,860 (GRCm39)	Q44R	probably benign	Het
Nup54	T	A	5: 92,573,641 (GRCm39)	N187I	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5ak22	C	A	2: 85,230,370 (GRCm39)	C169F	probably damaging	Het
Pate2	C	A	9: 35,596,969 (GRCm39)		probably benign	Het
Pex3	G	A	10: 13,411,315 (GRCm39)	Q188*	probably null	Het
Pikfyve	T	A	1: 65,231,351 (GRCm39)	W74R	probably damaging	Het
Plcl2	T	C	17: 50,914,874 (GRCm39)	S628P	probably damaging	Het
Pnldc1	T	C	17: 13,111,669 (GRCm39)	H346R	probably benign	Het
Pom121l2	T	A	13: 22,168,572 (GRCm39)	C948S	probably benign	Het
Pspc1	A	T	14: 56,999,404 (GRCm39)	M284K	possibly damaging	Het
Ralgapa2	A	G	2: 146,277,919 (GRCm39)	L414S	probably damaging	Het
Rgs13	T	A	1: 144,016,583 (GRCm39)	K53N	probably damaging	Het
Rorc	T	C	3: 94,296,291 (GRCm39)	S163P	probably benign	Het
Rpl3l	A	C	17: 24,952,984 (GRCm39)	T315P	possibly damaging	Het
Rsph3b	A	G	17: 7,172,438 (GRCm39)	V487A	probably benign	Het
Rusc2	A	G	4: 43,416,080 (GRCm39)	E462G	probably damaging	Het
Sez6l	T	C	5: 112,576,344 (GRCm39)	T838A	probably damaging	Het
Slc22a14	A	G	9: 119,008,561 (GRCm39)	Y236H	probably damaging	Het
Sspo	G	A	6: 48,442,457 (GRCm39)	R1984H	probably damaging	Het
Steap3	G	T	1: 120,169,186 (GRCm39)	D370E	probably benign	Het
Sumf1	A	G	6: 108,085,393 (GRCm39)		probably benign	Het
Telo2	T	C	17: 25,320,647 (GRCm39)	E754G	probably damaging	Het
Tjp1	A	G	7: 64,972,353 (GRCm39)	F604L	probably damaging	Het
Trpm7	A	T	2: 126,639,131 (GRCm39)	D1734E	probably benign	Het
Tsfm	A	C	10: 126,864,242 (GRCm39)	Y158D	probably damaging	Het
Ubtf	T	C	11: 102,197,591 (GRCm39)		probably benign	Het
Upk3a	G	T	15: 84,904,752 (GRCm39)	V167F	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,939 (GRCm39)	S327L	probably benign	Het
Vps13c	T	A	9: 67,858,965 (GRCm39)	I2805N	probably damaging	Het
Zfp592	A	G	7: 80,673,534 (GRCm39)	D166G	possibly damaging	Het

Other mutations in Pccb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Pccb	APN	9	100,867,922 (GRCm39)	missense	probably damaging	1.00
IGL02101:Pccb	APN	9	100,869,894 (GRCm39)	missense	possibly damaging	0.53
IGL02149:Pccb	APN	9	100,867,243 (GRCm39)	missense	probably damaging	1.00
IGL02938:Pccb	APN	9	100,866,449 (GRCm39)	missense	probably benign	0.35
PIT4402001:Pccb	UTSW	9	100,877,645 (GRCm39)	missense	probably benign	0.01
R0446:Pccb	UTSW	9	100,864,850 (GRCm39)	missense	probably damaging	1.00
R2128:Pccb	UTSW	9	100,867,884 (GRCm39)	missense	probably damaging	1.00
R2292:Pccb	UTSW	9	100,876,685 (GRCm39)	missense	probably benign
R3056:Pccb	UTSW	9	100,912,250 (GRCm39)	missense	probably damaging	1.00
R4600:Pccb	UTSW	9	100,916,832 (GRCm39)	missense	probably benign
R5087:Pccb	UTSW	9	100,867,296 (GRCm39)	intron	probably benign
R5219:Pccb	UTSW	9	100,867,262 (GRCm39)	nonsense	probably null
R5586:Pccb	UTSW	9	100,867,856 (GRCm39)	missense	possibly damaging	0.87
R5724:Pccb	UTSW	9	100,869,900 (GRCm39)	missense	probably benign	0.02
R6813:Pccb	UTSW	9	100,905,268 (GRCm39)	missense	probably damaging	1.00
R6982:Pccb	UTSW	9	100,905,349 (GRCm39)	splice site	probably null
R7253:Pccb	UTSW	9	100,913,966 (GRCm39)	missense	probably benign	0.01
R7535:Pccb	UTSW	9	100,876,615 (GRCm39)	splice site	probably null
R7795:Pccb	UTSW	9	100,881,316 (GRCm39)	missense	probably damaging	1.00
R7822:Pccb	UTSW	9	100,909,137 (GRCm39)	missense	probably damaging	1.00
R8298:Pccb	UTSW	9	100,867,885 (GRCm39)	missense	probably damaging	1.00
R8809:Pccb	UTSW	9	100,867,220 (GRCm39)	nonsense	probably null
R8888:Pccb	UTSW	9	100,905,305 (GRCm39)	splice site	probably benign
R9115:Pccb	UTSW	9	100,869,908 (GRCm39)	missense	probably damaging	1.00
R9260:Pccb	UTSW	9	100,877,643 (GRCm39)	missense	probably benign	0.00
R9668:Pccb	UTSW	9	100,876,634 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TCTGCTCTGAAGTCACCCAC -3'
(R):5'- TGTCTATGGCACCAGTGTG -3'

Sequencing Primer
(F):5'- TCTGAAGTCACCCACGTGCC -3'
(R):5'- CACCAGTGTGCGCTATGAATG -3'

Posted On

2015-09-24