Mutagenetix > Incidental Mutation

Incidental Mutation 'R8463:Pcca'

668166

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

067907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122771736-123128512 bp(+) (GRCm39)

Type of Mutation

splice site (89 bp from exon)

DNA Base Change (assembly)

A to G at 122922526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038374]

AlphaFold

Q91ZA3

Predicted Effect

probably null
Transcript: ENSMUST00000038374

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	58	167	2.1e-48	PFAM
Pfam:ATP-grasp_4	169	351	3.8e-15	PFAM
Pfam:RimK	170	372	5.6e-7	PFAM
Pfam:CPSase_L_D2	172	381	2.8e-87	PFAM
Pfam:ATP-grasp	181	351	9.8e-10	PFAM
Pfam:Dala_Dala_lig_C	192	349	7.7e-12	PFAM
Biotin_carb_C	393	501	4.27e-46	SMART
Pfam:Biotin_lipoyl	656	723	1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177312

Coding Region Coverage

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

Validation Efficiency

98% (64/65)

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 the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,192,909 (GRCm39)	I146F	probably damaging	Het
Adcy8	G	T	15: 64,792,874 (GRCm39)	D27E	probably benign	Het
Ahnak	A	G	19: 8,986,113 (GRCm39)	I2466V	probably benign	Het
BC005624	T	A	2: 30,871,817 (GRCm39)	E19V	possibly damaging	Het
Bnc2	A	T	4: 84,211,608 (GRCm39)	F279I	probably damaging	Het
Bub1	A	T	2: 127,659,353 (GRCm39)	L335M	probably benign	Het
Cdkn1c	G	A	7: 143,014,324 (GRCm39)	H41Y	possibly damaging	Het
Celsr1	G	A	15: 85,914,415 (GRCm39)	P1186L	probably damaging	Het
Cnot2	A	G	10: 116,353,236 (GRCm39)	L75S	probably benign	Het
Cntn6	A	T	6: 104,749,580 (GRCm39)	E338D	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dlg2	G	T	7: 91,617,441 (GRCm39)	M289I	probably benign	Het
Dzip1l	A	T	9: 99,519,875 (GRCm39)	D134V	possibly damaging	Het
Fam171b	A	G	2: 83,683,801 (GRCm39)	Y106C	probably damaging	Het
Fgd3	T	C	13: 49,420,081 (GRCm39)	K599E	possibly damaging	Het
Gabrr2	A	T	4: 33,084,375 (GRCm39)	I154F	probably damaging	Het
Gjd2	T	A	2: 113,842,053 (GRCm39)	E141D	probably benign	Het
Gmds	T	C	13: 32,003,906 (GRCm39)	N371S	probably benign	Het
Gp2	C	T	7: 119,053,554 (GRCm39)	A136T	probably damaging	Het
Gstm2	A	G	3: 107,893,672 (GRCm39)		probably null	Het
Hnmt	T	C	2: 23,938,836 (GRCm39)	M1V	probably null	Het
Hydin	T	C	8: 111,237,553 (GRCm39)	V1942A	probably benign	Het
Krt87	C	A	15: 101,332,506 (GRCm39)	A236S	probably benign	Het
Lama3	A	T	18: 12,582,896 (GRCm39)	H654L	probably damaging	Het
Lrp2	G	A	2: 69,322,250 (GRCm39)	T1893M	probably damaging	Het
Lyg1	A	T	1: 37,988,922 (GRCm39)	Y99*	probably null	Het
Mdga1	T	C	17: 30,068,703 (GRCm39)	D208G	probably damaging	Het
Mgarp	T	C	3: 51,296,348 (GRCm39)	E218G	probably damaging	Het
Mif4gd	T	A	11: 115,499,324 (GRCm39)	D186V	probably benign	Het
Mlec	T	C	5: 115,288,283 (GRCm39)	Y191C	probably damaging	Het
Mtus1	C	A	8: 41,536,271 (GRCm39)	V482L	probably benign	Het
Muc16	T	A	9: 18,570,435 (GRCm39)	T695S	unknown	Het
Muc4	A	T	16: 32,574,201 (GRCm39)	M760L	probably benign	Het
Mybl2	A	T	2: 162,916,638 (GRCm39)	S430C	probably damaging	Het
Nepn	A	G	10: 52,276,896 (GRCm39)	N211D	probably benign	Het
Nuggc	A	G	14: 65,851,011 (GRCm39)	T294A	probably damaging	Het
Or51k2	G	A	7: 103,595,834 (GRCm39)		probably null	Het
Or5w16	A	T	2: 87,577,437 (GRCm39)	E299V	probably benign	Het
Pcdhb13	T	G	18: 37,576,287 (GRCm39)	S222A	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plppr3	A	T	10: 79,703,397 (GRCm39)	V29E	probably damaging	Het
Plxna2	C	T	1: 194,326,354 (GRCm39)	P96L	probably damaging	Het
Pop4	A	T	7: 37,962,599 (GRCm39)	*222R	probably null	Het
Prss2	T	A	6: 41,498,739 (GRCm39)	M1K	probably null	Het
Prss3	C	A	6: 41,352,059 (GRCm39)	R68L	probably benign	Het
Recql5	G	A	11: 115,787,619 (GRCm39)	Q512*	probably null	Het
Rnf148	A	G	6: 23,654,801 (GRCm39)	I65T	probably benign	Het
Scgb1b19	G	A	7: 32,987,082 (GRCm39)	A78T	probably benign	Het
Sftpd	A	G	14: 40,897,583 (GRCm39)		probably null	Het
Shank1	A	G	7: 44,003,605 (GRCm39)	R1766G	possibly damaging	Het
Slc35e2	T	C	4: 155,694,615 (GRCm39)	L54P	probably damaging	Het
Smg6	A	G	11: 74,820,886 (GRCm39)	K386E	probably benign	Het
Sorcs1	A	G	19: 50,248,248 (GRCm39)	S393P	probably damaging	Het
Spen	A	G	4: 141,249,590 (GRCm39)	V66A	unknown	Het
Tpm1	G	T	9: 66,955,512 (GRCm39)	A45E	probably benign	Het
Trmt2a	T	C	16: 18,069,039 (GRCm39)	Y294H	probably damaging	Het
Txnl4b	T	C	8: 110,299,430 (GRCm39)	V130A	possibly damaging	Het
Vmn2r14	C	A	5: 109,369,340 (GRCm39)	V78L	probably benign	Het
Vmn2r27	A	G	6: 124,169,168 (GRCm39)	V654A	probably damaging	Het
Wee2	G	T	6: 40,420,914 (GRCm39)	M1I	probably null	Het
Xpnpep3	A	G	15: 81,332,672 (GRCm39)	K403R	probably benign	Het
Zranb1	A	G	7: 132,551,810 (GRCm39)	T154A	possibly damaging	Het

Other mutations in Pcca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Pcca	APN	14	122,820,041 (GRCm39)	missense	probably benign	0.22
IGL00906:Pcca	APN	14	122,927,545 (GRCm39)	missense	probably benign	0.34
IGL00975:Pcca	APN	14	123,114,312 (GRCm39)	missense	probably damaging	1.00
IGL01329:Pcca	APN	14	122,927,545 (GRCm39)	missense	possibly damaging	0.50
IGL01353:Pcca	APN	14	122,820,029 (GRCm39)	missense	probably damaging	0.98
IGL01672:Pcca	APN	14	122,927,557 (GRCm39)	missense	probably benign	0.02
IGL02621:Pcca	APN	14	122,922,391 (GRCm39)	missense	probably damaging	0.99
IGL02695:Pcca	APN	14	122,820,150 (GRCm39)	splice site	probably benign
IGL02749:Pcca	APN	14	122,771,800 (GRCm39)	missense	probably benign	0.00
IGL02971:Pcca	APN	14	123,126,945 (GRCm39)	missense	probably damaging	0.96
IGL03290:Pcca	APN	14	122,822,518 (GRCm39)	missense	possibly damaging	0.52
IGL03052:Pcca	UTSW	14	123,124,513 (GRCm39)	missense	probably benign
PIT4812001:Pcca	UTSW	14	123,027,794 (GRCm39)	missense	probably benign	0.00
R0549:Pcca	UTSW	14	122,875,789 (GRCm39)	splice site	probably benign
R0866:Pcca	UTSW	14	123,126,957 (GRCm39)	missense	possibly damaging	0.95
R1498:Pcca	UTSW	14	122,854,230 (GRCm39)	missense	probably damaging	1.00
R1749:Pcca	UTSW	14	122,938,542 (GRCm39)	missense	probably damaging	0.97
R2002:Pcca	UTSW	14	123,124,477 (GRCm39)	missense	probably benign	0.00
R2020:Pcca	UTSW	14	123,050,634 (GRCm39)	missense	possibly damaging	0.64
R2086:Pcca	UTSW	14	122,923,527 (GRCm39)	missense	probably damaging	0.99
R3780:Pcca	UTSW	14	122,922,297 (GRCm39)	missense	probably damaging	1.00
R5023:Pcca	UTSW	14	123,027,810 (GRCm39)	missense	probably damaging	1.00
R5643:Pcca	UTSW	14	123,124,481 (GRCm39)	missense	probably damaging	1.00
R5644:Pcca	UTSW	14	123,124,481 (GRCm39)	missense	probably damaging	1.00
R5943:Pcca	UTSW	14	122,896,188 (GRCm39)	missense	probably damaging	0.99
R5966:Pcca	UTSW	14	122,905,998 (GRCm39)	missense	probably damaging	0.96
R6295:Pcca	UTSW	14	122,896,187 (GRCm39)	missense	probably benign	0.10
R6317:Pcca	UTSW	14	122,820,035 (GRCm39)	missense	probably damaging	1.00
R6319:Pcca	UTSW	14	122,820,035 (GRCm39)	missense	probably damaging	1.00
R6361:Pcca	UTSW	14	122,875,794 (GRCm39)	missense	probably benign	0.07
R6989:Pcca	UTSW	14	122,887,700 (GRCm39)	missense	probably damaging	1.00
R7243:Pcca	UTSW	14	123,114,186 (GRCm39)	missense	probably benign
R7841:Pcca	UTSW	14	122,800,384 (GRCm39)	missense	probably benign	0.03
R8026:Pcca	UTSW	14	122,875,794 (GRCm39)	missense	probably benign	0.07
R8769:Pcca	UTSW	14	122,854,260 (GRCm39)	missense	probably benign	0.01
R8889:Pcca	UTSW	14	122,795,123 (GRCm39)	splice site	probably benign
R8956:Pcca	UTSW	14	122,975,324 (GRCm39)	missense	probably benign
R9287:Pcca	UTSW	14	122,854,178 (GRCm39)	missense	probably benign	0.00
R9336:Pcca	UTSW	14	122,887,738 (GRCm39)	missense	probably benign	0.04
R9447:Pcca	UTSW	14	122,854,290 (GRCm39)	missense	probably damaging	0.99
R9606:Pcca	UTSW	14	122,901,717 (GRCm39)	missense	probably damaging	1.00
RF024:Pcca	UTSW	14	122,922,310 (GRCm39)	missense	probably damaging	1.00
X0026:Pcca	UTSW	14	122,854,203 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- CATTACTGGCCTGGACTTAGTC -3'
(R):5'- CAGTGTAGAGCCTGTCTGTG -3'

Sequencing Primer
(F):5'- GTCCAAGAAATGATCCTTGTTGC -3'
(R):5'- CTGTGGAATTTTGAAGGACAAAGTC -3'

Posted On

2021-03-10