Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:Pccb'

564086

Institutional Source

Beutler Lab

Gene Symbol

Pccb

Ensembl Gene

ENSMUSG00000032527

Gene Name

propionyl Coenzyme A carboxylase, beta polypeptide

Synonyms

1300012P06Rik

MMRRC Submission

045314-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100864085-100916951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100913966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 84 (S84R)

Ref Sequence

ENSEMBL: ENSMUSP00000035116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000142676] [ENSMUST00000149322] [ENSMUST00000189498]

AlphaFold

Q99MN9

Predicted Effect

probably benign
Transcript: ENSMUST00000035116
AA Change: S84R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: S84R

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 benign
Transcript: ENSMUST00000142676

SMART Domains

Protein: ENSMUSP00000123421
Gene: ENSMUSG00000032527

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Carboxyl_trans	52	256	3.2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149322
AA Change: S84R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: S84R

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

possibly damaging
Transcript: ENSMUST00000189498
AA Change: S84R

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140354
Gene: ENSMUSG00000032527
AA Change: S84R

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Carboxyl_trans	59	102	2.8e-9	PFAM

Meta Mutation Damage Score

0.0743

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391 (GRCm39)	H199R	not run	Het
Ak9	A	G	10: 41,308,480 (GRCm39)	N1804S	unknown	Het
Akr1c21	C	A	13: 4,627,139 (GRCm39)	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,123,216 (GRCm39)	T30A	probably benign	Het
Alox15	T	C	11: 70,236,724 (GRCm39)	D447G	probably damaging	Het
Amigo2	T	C	15: 97,142,956 (GRCm39)	I489V	probably benign	Het
Ano9	A	T	7: 140,687,350 (GRCm39)	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,389,576 (GRCm39)	W583L	probably benign	Het
Atxn2	A	G	5: 121,916,084 (GRCm39)	E430G	probably damaging	Het
Brip1	T	C	11: 86,034,104 (GRCm39)	Y539C	possibly damaging	Het
C87436	T	A	6: 86,442,790 (GRCm39)	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868 (GRCm39)	Y227D	probably benign	Het
Ccn6	T	G	10: 39,031,031 (GRCm39)	N164T	probably benign	Het
Chd4	T	A	6: 125,083,555 (GRCm39)		probably null	Het
Chrna10	A	G	7: 101,761,293 (GRCm39)	C433R	probably benign	Het
Cntln	A	T	4: 85,036,710 (GRCm39)	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922 (GRCm39)	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,255 (GRCm39)	I222T	probably benign	Het
Dagla	A	T	19: 10,239,945 (GRCm39)		probably null	Het
Dcaf7	C	A	11: 105,938,669 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
E2f7	A	G	10: 110,602,164 (GRCm39)		probably null	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Glyctk	T	C	9: 106,032,661 (GRCm39)	T451A	probably damaging	Het
Hectd4	A	G	5: 121,452,944 (GRCm39)	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,637,600 (GRCm39)	C243F	unknown	Het
Hspg2	A	C	4: 137,247,257 (GRCm39)	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,618,728 (GRCm39)	L48F	probably benign	Het
Jazf1	C	A	6: 52,754,637 (GRCm39)	E146D	probably benign	Het
Katnb1	C	T	8: 95,822,125 (GRCm39)	Q284*	probably null	Het
Kctd18	G	T	1: 58,001,115 (GRCm39)	Y213*	probably null	Het
Klk1b26	T	C	7: 43,664,213 (GRCm39)	S23P	possibly damaging	Het
Krt88	T	C	15: 101,348,392 (GRCm39)	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,629,522 (GRCm39)	V623I	probably benign	Het
Map3k4	T	A	17: 12,490,955 (GRCm39)	M159L	probably benign	Het
Mast3	C	A	8: 71,242,326 (GRCm39)		probably null	Het
Mier1	G	A	4: 102,996,544 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,431,207 (GRCm39)	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,497,760 (GRCm39)	S20G	probably benign	Het
Mup10	A	T	4: 60,538,077 (GRCm39)	M4K	unknown	Het
Nlrp5	C	T	7: 23,116,816 (GRCm39)	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,176,001 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,913,767 (GRCm39)	T2A	probably damaging	Het
Or2a52	T	C	6: 43,144,744 (GRCm39)	F251L	probably damaging	Het
Or2t45	T	C	11: 58,669,822 (GRCm39)	Y290H	probably damaging	Het
Or4c103	T	C	2: 88,513,969 (GRCm39)	T36A	possibly damaging	Het
Or51aa2	C	T	7: 103,187,995 (GRCm39)	A149T	probably benign	Het
Or5af2	T	A	11: 58,708,366 (GRCm39)	C177*	probably null	Het
Or5ak22	A	G	2: 85,229,983 (GRCm39)	I298T	probably benign	Het
Otud1	C	A	2: 19,663,742 (GRCm39)	D290E	probably damaging	Het
Pank4	A	G	4: 155,055,377 (GRCm39)	N249S	probably benign	Het
Pemt	A	T	11: 59,862,081 (GRCm39)	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,970,856 (GRCm39)	I634T	possibly damaging	Het
Pias2	T	G	18: 77,207,811 (GRCm39)	I232R	probably damaging	Het
Plce1	A	G	19: 38,686,952 (GRCm39)	E620G	probably damaging	Het
Pramel17	A	T	4: 101,692,725 (GRCm39)	V425E	probably benign	Het
Ptpn13	G	A	5: 103,713,150 (GRCm39)	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,444,134 (GRCm39)	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,132,368 (GRCm39)	M296I	probably benign	Het
R3hdm2	C	T	10: 127,317,644 (GRCm39)	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,589,733 (GRCm39)	E258G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Senp8	T	C	9: 59,644,478 (GRCm39)	N226S	probably benign	Het
Six5	C	T	7: 18,828,901 (GRCm39)	R114C	probably damaging	Het
Slc10a1	T	C	12: 81,004,958 (GRCm39)	T195A	probably benign	Het
Slpi	G	T	2: 164,197,467 (GRCm39)	Q51K	probably benign	Het
Smarca4	T	C	9: 21,570,256 (GRCm39)	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,074,537 (GRCm39)	M225I	probably benign	Het
Tent5a	C	A	9: 85,208,770 (GRCm39)	G18C	probably benign	Het
Tnfrsf21	G	A	17: 43,348,558 (GRCm39)	V57I	probably benign	Het
Trim44	G	T	2: 102,177,313 (GRCm39)	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,703,633 (GRCm39)	I264V	probably damaging	Het
Xirp2	A	C	2: 67,343,826 (GRCm39)	E2022D	probably benign	Het
Zfp975	A	G	7: 42,311,036 (GRCm39)	*526R	probably null	Het
Zp1	A	G	19: 10,893,933 (GRCm39)	L424P	probably 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
R4574:Pccb	UTSW	9	100,867,252 (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
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'- ACTGAACTGGAGTTACACTGC -3'
(R):5'- GGAGCCTTTTACATTGGGGC -3'

Sequencing Primer
(F):5'- GTTACACTGCAGAGAATAAACAGC -3'
(R):5'- CCTTTTACATTGGGGCAAAGGC -3'

Posted On

2019-06-26