Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02149:Pccb'

281899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pccb

Ensembl Gene

ENSMUSG00000032527

Gene Name

propionyl Coenzyme A carboxylase, beta polypeptide

Synonyms

1300012P06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02149

Quality Score

Status

Chromosome

Chromosomal Location

100864085-100916951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100867243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 411 (H411Y)

Ref Sequence

ENSEMBL: ENSMUSP00000118006 (fasta)

Gene Model

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

AlphaFold

Q99MN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035116
AA Change: H448Y

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

SMART Domains

Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: H448Y

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: H411Y

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

SMART Domains

Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: H411Y

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	T	9: 70,610,713 (GRCm39)	H67L	probably damaging	Het
Adgrb1	C	T	15: 74,412,326 (GRCm39)	T435I	probably damaging	Het
Adgrd1	T	A	5: 129,256,325 (GRCm39)	F652Y	probably damaging	Het
Adgrl4	T	A	3: 151,205,991 (GRCm39)	F250Y	possibly damaging	Het
Aebp2	C	T	6: 140,588,010 (GRCm39)	A360V	probably benign	Het
AW551984	A	C	9: 39,504,220 (GRCm39)	M582R	probably benign	Het
B430306N03Rik	T	C	17: 48,624,020 (GRCm39)	V107A	probably benign	Het
Cage1	T	C	13: 38,206,505 (GRCm39)	N447D	probably damaging	Het
Col17a1	T	C	19: 47,657,071 (GRCm39)	D524G	probably benign	Het
Dpp6	A	T	5: 27,743,022 (GRCm39)	I218F	probably benign	Het
Ep300	T	G	15: 81,512,621 (GRCm39)		probably benign	Het
Ephb2	C	T	4: 136,421,225 (GRCm39)	C375Y	probably damaging	Het
Fastk	A	G	5: 24,649,051 (GRCm39)	V112A	probably damaging	Het
Fbxo11	T	A	17: 88,301,187 (GRCm39)	R775S	possibly damaging	Het
Fbxw20	A	G	9: 109,062,886 (GRCm39)		probably null	Het
Hamp2	G	T	7: 30,622,122 (GRCm39)	A50E	probably damaging	Het
Il22b	C	A	10: 118,130,902 (GRCm39)		probably benign	Het
Ints1	G	A	5: 139,737,715 (GRCm39)	R2139C	probably damaging	Het
Itgae	T	A	11: 72,994,720 (GRCm39)	V24E	probably benign	Het
Jakmip3	G	A	7: 138,609,075 (GRCm39)	V60M	possibly damaging	Het
Kcnk10	A	C	12: 98,485,099 (GRCm39)		probably benign	Het
Klra1	A	T	6: 130,352,293 (GRCm39)	C150S	probably damaging	Het
Lhx9	A	T	1: 138,759,172 (GRCm39)	V376E	probably damaging	Het
Mdm1	T	A	10: 117,983,970 (GRCm39)	F199I	probably damaging	Het
Nipal3	G	T	4: 135,194,163 (GRCm39)	T290K	possibly damaging	Het
Obsl1	C	T	1: 75,480,464 (GRCm39)	E387K	probably damaging	Het
Or8b43	A	G	9: 38,360,693 (GRCm39)	H175R	probably damaging	Het
Oxct1	A	G	15: 4,120,711 (GRCm39)	Y265C	probably damaging	Het
Pkp1	A	G	1: 135,814,485 (GRCm39)	S279P	probably benign	Het
Prdm14	C	A	1: 13,195,663 (GRCm39)	G133C	probably benign	Het
Prkaa2	A	T	4: 104,897,285 (GRCm39)	N309K	probably benign	Het
Shc2	T	C	10: 79,458,102 (GRCm39)	D527G	probably damaging	Het
Shkbp1	C	T	7: 27,042,064 (GRCm39)		probably benign	Het
Skil	T	C	3: 31,151,856 (GRCm39)	V126A	possibly damaging	Het
Slc25a36	A	T	9: 96,975,122 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,924 (GRCm39)	T423A	probably benign	Het
Spty2d1	A	G	7: 46,657,892 (GRCm39)		probably benign	Het
Stag1	A	G	9: 100,769,442 (GRCm39)	D519G	probably benign	Het
Tmprss2	G	T	16: 97,400,479 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,060,109 (GRCm39)	T759K	possibly damaging	Het
Trpc4ap	C	A	2: 155,481,467 (GRCm39)	A530S	probably damaging	Het
Ttn	A	T	2: 76,642,099 (GRCm39)	D11625E	probably damaging	Het
Ube4b	T	C	4: 149,483,141 (GRCm39)	I42M	possibly damaging	Het
Ubxn10	A	G	4: 138,448,584 (GRCm39)	S31P	probably benign	Het
Ubxn7	A	G	16: 32,194,088 (GRCm39)	Y220C	probably damaging	Het
Vmn1r234	A	G	17: 21,449,269 (GRCm39)	Y61C	probably benign	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
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
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

Posted On

2015-04-16