Mutagenetix > Incidental Mutations

Incidental Mutation 'R2086:Pcca'

230026

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

040091-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122534324-122891100 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122686115 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 404 (S404P)

Ref Sequence

ENSEMBL: ENSMUSP00000038763 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038374
AA Change: S404P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: S404P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226674

Meta Mutation Damage Score

0.2954

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476		probably benign	Het
Acap2	C	G	16: 31,110,945	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012	R302G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256	S295P	probably benign	Het
Cenpb	T	C	2: 131,178,597		probably benign	Het
Cntnap3	A	G	13: 64,794,262	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098		probably benign	Het
Csnk2a1	A	G	2: 152,254,281	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871	Q1296K	possibly damaging	Het
Doxl2	A	G	6: 48,977,602	E558G	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773		probably benign	Het
Exoc1	A	T	5: 76,532,846	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563		probably null	Het
Gc	T	C	5: 89,438,342	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706		noncoding transcript	Het
Golm1	G	A	13: 59,645,185	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281	V813A	probably damaging	Het
Itih1	C	T	14: 30,937,843	A279T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lama1	T	C	17: 67,817,623	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202		probably null	Het
Mfsd7a	C	T	5: 108,445,621	R117H	probably damaging	Het
Mgam	T	A	6: 40,761,028		probably null	Het
Mical2	A	C	7: 112,318,603	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256	D2715G	probably damaging	Het
Olfr154	A	C	2: 85,663,746	S229R	probably benign	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Pcdh10	T	C	3: 45,380,471	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318		probably null	Het
Ptdss1	A	G	13: 66,953,555	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984	I43V	probably null	Het
Pygm	G	A	19: 6,391,481		probably null	Het
Rab7	C	T	6: 88,012,318	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431		probably null	Het
Rergl	T	C	6: 139,494,834	T106A	probably benign	Het
Rnf17	T	G	14: 56,483,380	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969	M1V	probably null	Het
Rps6ka5	T	C	12: 100,619,615	T140A	possibly damaging	Het
Sbno2	T	A	10: 80,057,856	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946	S93W	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Spag1	T	C	15: 36,227,141	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ttc38	T	A	15: 85,838,727	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830	L932P	probably damaging	Het

Other mutations in Pcca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Pcca	APN	14	122582629	missense	probably benign	0.22
IGL00906:Pcca	APN	14	122690133	missense	probably benign	0.34
IGL00975:Pcca	APN	14	122876900	missense	probably damaging	1.00
IGL01329:Pcca	APN	14	122690133	missense	possibly damaging	0.50
IGL01353:Pcca	APN	14	122582617	missense	probably damaging	0.98
IGL01672:Pcca	APN	14	122690145	missense	probably benign	0.02
IGL02621:Pcca	APN	14	122684979	missense	probably damaging	0.99
IGL02695:Pcca	APN	14	122582738	splice site	probably benign
IGL02749:Pcca	APN	14	122534388	missense	probably benign	0.00
IGL02971:Pcca	APN	14	122889533	missense	probably damaging	0.96
IGL03290:Pcca	APN	14	122585106	missense	possibly damaging	0.52
IGL03052:Pcca	UTSW	14	122887101	missense	probably benign
PIT4812001:Pcca	UTSW	14	122790382	missense	probably benign	0.00
R0549:Pcca	UTSW	14	122638377	splice site	probably benign
R0866:Pcca	UTSW	14	122889545	missense	possibly damaging	0.95
R1498:Pcca	UTSW	14	122616818	missense	probably damaging	1.00
R1749:Pcca	UTSW	14	122701130	missense	probably damaging	0.97
R2002:Pcca	UTSW	14	122887065	missense	probably benign	0.00
R2020:Pcca	UTSW	14	122813222	missense	possibly damaging	0.64
R3780:Pcca	UTSW	14	122684885	missense	probably damaging	1.00
R5023:Pcca	UTSW	14	122790398	missense	probably damaging	1.00
R5643:Pcca	UTSW	14	122887069	missense	probably damaging	1.00
R5644:Pcca	UTSW	14	122887069	missense	probably damaging	1.00
R5943:Pcca	UTSW	14	122658776	missense	probably damaging	0.99
R5966:Pcca	UTSW	14	122668586	missense	probably damaging	0.96
R6295:Pcca	UTSW	14	122658775	missense	probably benign	0.10
R6317:Pcca	UTSW	14	122582623	missense	probably damaging	1.00
R6319:Pcca	UTSW	14	122582623	missense	probably damaging	1.00
R6361:Pcca	UTSW	14	122638382	missense	probably benign	0.07
R6989:Pcca	UTSW	14	122650288	missense	probably damaging	1.00
R7243:Pcca	UTSW	14	122876774	missense	probably benign
R7841:Pcca	UTSW	14	122562972	missense	probably benign	0.03
R7924:Pcca	UTSW	14	122562972	missense	probably benign	0.03
RF024:Pcca	UTSW	14	122684898	missense	probably damaging	1.00
X0026:Pcca	UTSW	14	122616791	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GCTAAACTCTGCTTGTGGTTC -3'
(R):5'- GAAATGACTCCCCATGAATTTCCC -3'

Sequencing Primer
(F):5'- CTAAACTCTGCTTGTGGTTCTGTGTG -3'
(R):5'- GACTCCCCATGAATTTCCCTTGTC -3'

Posted On

2014-09-18