Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Pccb'

585960

Institutional Source

Beutler Lab

Gene Symbol

Pccb

Ensembl Gene

ENSMUSG00000032527

Gene Name

propionyl Coenzyme A carboxylase, beta polypeptide

Synonyms

1300012P06Rik

MMRRC Submission

045607-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100864085-100916951 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 100876615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118006 (fasta)

Gene Model

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

AlphaFold

Q99MN9

Predicted Effect

probably null
Transcript: ENSMUST00000035116

SMART Domains

Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527

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 null
Transcript: ENSMUST00000149322

SMART Domains

Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,837,463 (GRCm39)	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,652,067 (GRCm39)	T415A	probably benign	Het
Akt3	A	T	1: 176,924,600 (GRCm39)	V165D	probably damaging	Het
Cbr2	T	A	11: 120,620,628 (GRCm39)	I219F	probably damaging	Het
Cdh20	T	A	1: 104,902,768 (GRCm39)	D486E	probably damaging	Het
Cenpe	A	G	3: 134,949,523 (GRCm39)	S103G	possibly damaging	Het
Chd4	T	A	6: 125,105,836 (GRCm39)	S1818T	probably benign	Het
Chst5	T	C	8: 112,616,795 (GRCm39)	D275G	probably damaging	Het
Clca3a1	A	G	3: 144,724,328 (GRCm39)	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,058,716 (GRCm39)	Y239H	probably benign	Het
Czib	T	G	4: 107,752,097 (GRCm39)	S159A	probably benign	Het
Ddx25	A	G	9: 35,454,951 (GRCm39)	F446L	possibly damaging	Het
Dgkb	T	C	12: 38,186,646 (GRCm39)	L265P	probably damaging	Het
Dis3	A	G	14: 99,327,415 (GRCm39)	S363P	probably benign	Het
Disp3	T	C	4: 148,327,323 (GRCm39)	E1187G	probably damaging	Het
Dop1b	G	A	16: 93,603,249 (GRCm39)	G2061R	probably damaging	Het
Dsp	T	C	13: 38,376,765 (GRCm39)	S1517P	probably benign	Het
Epg5	T	A	18: 78,076,141 (GRCm39)	V2513E	probably benign	Het
Fryl	T	A	5: 73,255,539 (GRCm39)	T831S	probably benign	Het
Gm6309	A	T	5: 146,105,100 (GRCm39)	V271D	probably damaging	Het
H2-M2	G	T	17: 37,793,528 (GRCm39)	S159R	probably benign	Het
Helq	A	G	5: 100,937,999 (GRCm39)		probably null	Het
Herc1	G	C	9: 66,382,135 (GRCm39)	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 106,245,755 (GRCm39)	I87F	probably damaging	Het
Ice2	A	G	9: 69,339,360 (GRCm39)	N959S	probably damaging	Het
Ifi47	T	A	11: 48,987,452 (GRCm39)	D406E	probably damaging	Het
Ifit3	T	G	19: 34,565,280 (GRCm39)	S275R	probably damaging	Het
Insl5	C	A	4: 102,875,395 (GRCm39)	K118N	probably damaging	Het
Irf7	A	T	7: 140,844,550 (GRCm39)	F158I	probably benign	Het
Kat2b	T	C	17: 53,931,431 (GRCm39)	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,619,746 (GRCm39)	N102Y	probably damaging	Het
Krt13	C	T	11: 100,008,824 (GRCm39)	G410S	unknown	Het
Larp6	A	T	9: 60,631,437 (GRCm39)	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,392,683 (GRCm39)	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Mysm1	T	C	4: 94,840,452 (GRCm39)	N655D	probably benign	Het
Nbas	T	A	12: 13,329,390 (GRCm39)	S112T	probably damaging	Het
Neb	A	G	2: 52,055,115 (GRCm39)		probably null	Het
Noxred1	G	A	12: 87,280,206 (GRCm39)	A42V	probably benign	Het
Olfm5	G	A	7: 103,803,444 (GRCm39)	P340S	possibly damaging	Het
Or11h4	G	A	14: 50,974,122 (GRCm39)	P166S	probably benign	Het
Or2l5	T	C	16: 19,333,544 (GRCm39)	T281A	probably damaging	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Or5m8	T	A	2: 85,822,245 (GRCm39)	V28E	probably benign	Het
Or9i1b	A	G	19: 13,896,449 (GRCm39)	K22E	probably benign	Het
Pnn	T	A	12: 59,118,923 (GRCm39)	V502E	probably benign	Het
Pole2	A	T	12: 69,269,203 (GRCm39)	I98K	probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 28,838,484 (GRCm39)	K111E	probably benign	Het
Rbbp6	G	A	7: 122,589,366 (GRCm39)	M351I	probably benign	Het
Rgs19	T	G	2: 181,333,101 (GRCm39)	H53P	probably damaging	Het
Rin1	A	T	19: 5,102,564 (GRCm39)	T369S	probably benign	Het
Rnaset2b	G	A	17: 7,259,138 (GRCm39)	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,683,899 (GRCm39)	P379S	probably damaging	Het
Sbno1	A	G	5: 124,551,342 (GRCm39)	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,747,325 (GRCm39)	L29Q	unknown	Het
Slc16a14	T	C	1: 84,890,843 (GRCm39)	Y154C	probably damaging	Het
Slc22a29	A	G	19: 8,147,342 (GRCm39)	F340S	probably damaging	Het
Slc6a4	T	G	11: 76,905,976 (GRCm39)	I259S	possibly damaging	Het
Smarca4	G	A	9: 21,558,921 (GRCm39)	V651I	possibly damaging	Het
Susd5	C	T	9: 113,893,108 (GRCm39)	A62V	possibly damaging	Het
Syt1	T	A	10: 108,463,283 (GRCm39)		probably null	Het
Taf10	T	C	7: 105,390,117 (GRCm39)	I218T	probably benign	Het
Tas1r1	C	A	4: 152,112,819 (GRCm39)	V745F	probably benign	Het
Tas2r125	C	A	6: 132,887,287 (GRCm39)	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,430,523 (GRCm39)	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,624 (GRCm39)	Q1184*	probably null	Het
Treml2	T	A	17: 48,609,847 (GRCm39)	V93D	probably damaging	Het
Trim11	G	A	11: 58,872,891 (GRCm39)	E192K	probably damaging	Het
Trim43a	A	G	9: 88,470,201 (GRCm39)	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,588 (GRCm39)	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960 (GRCm39)	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,623,305 (GRCm39)	S235G	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp36	A	T	11: 118,152,872 (GRCm39)	S1084T	possibly damaging	Het
Vps39	T	A	2: 120,155,176 (GRCm39)	N550I	probably damaging	Het
Wdr47	A	G	3: 108,537,027 (GRCm39)	I572V	probably benign	Het
Zfp112	A	T	7: 23,826,135 (GRCm39)	Y705F	probably damaging	Het
Zfp282	A	G	6: 47,881,878 (GRCm39)	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487 (GRCm39)	D524G	probably benign	Het
Zfp90	A	T	8: 107,150,900 (GRCm39)	K204N	possibly damaging	Het
Zmym2	T	C	14: 57,194,536 (GRCm39)	S1265P	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
R7253:Pccb	UTSW	9	100,913,966 (GRCm39)	missense	probably benign	0.01
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'- GAGCTCTCATGACGTCACAG -3'
(R):5'- AGGTCTGCCTAGTGACATGGTG -3'

Sequencing Primer
(F):5'- TCTCATGACGTCACAGCCACC -3'
(R):5'- TGAGGACACATTACACAGTCAG -3'

Posted On

2019-10-18