Mutagenetix > Incidental Mutations

Incidental Mutation 'R2020:Pcca'

223884

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

040029-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122534324-122891100 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122813222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 101 (M101K)

Ref Sequence

ENSEMBL: ENSMUSP00000135266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000110679] [ENSMUST00000152383]

AlphaFold

Q91ZA3

Predicted Effect

probably benign
Transcript: ENSMUST00000038374
AA Change: M621K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: M621K

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: ENSMUST00000110679

SMART Domains

Protein: ENSMUSP00000135487
Gene: ENSMUSG00000041625

Domain	Start	End	E-Value	Type
Pfam:AIG2	4	71	3.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128893

Predicted Effect

unknown
Transcript: ENSMUST00000132444
AA Change: M28K

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152383
AA Change: M101K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650
AA Change: M101K

Domain	Start	End	E-Value	Type
Pfam:SLT_beta	32	106	3.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156755

Predicted Effect

probably benign
Transcript: ENSMUST00000177312

Meta Mutation Damage Score

0.1782

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332		probably null	Het
Akap9	T	C	5: 3,961,967	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269		probably null	Het
Ccdc27	T	C	4: 154,033,313	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445		probably benign	Het
Chd7	G	A	4: 8,855,226	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181		probably benign	Het
Col20a1	G	A	2: 181,013,163		probably null	Het
Cped1	A	G	6: 22,143,964	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,612,003	F131L	probably damaging	Het
Dhx38	G	A	8: 109,556,869		probably benign	Het
Dido1	G	T	2: 180,659,585	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925	I555V	probably benign	Het
Eif2ak2	T	C	17: 78,863,963	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149	D46V	probably benign	Het
Fech	C	T	18: 64,478,727	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,644	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,733,896	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223		probably null	Het
Nlgn2	G	T	11: 69,828,441	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432	Y203C	possibly damaging	Het
Plekha6	A	G	1: 133,284,970	T671A	possibly damaging	Het
Prex2	G	A	1: 11,162,312	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521	V501I	probably benign	Het
Prom1	T	A	5: 44,011,253		probably benign	Het
Ptprd	A	G	4: 76,133,161	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057		probably null	Het
Rnf213	A	G	11: 119,461,918	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,696,001	L17P	probably damaging	Het
Sqor	T	C	2: 122,804,107		probably null	Het
Stx18	A	G	5: 38,135,244	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024		probably benign	Het
Ugdh	T	C	5: 65,416,925	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,844,169	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830	G163D	unknown	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
R2086:Pcca	UTSW	14	122686115	missense	probably damaging	0.99
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
R8026:Pcca	UTSW	14	122638382	missense	probably benign	0.07
R8463:Pcca	UTSW	14	122685114	splice site	probably null
R8769:Pcca	UTSW	14	122616848	missense	probably benign	0.01
R8889:Pcca	UTSW	14	122557711	splice site	probably benign
R8956:Pcca	UTSW	14	122737912	missense	probably benign
R9287:Pcca	UTSW	14	122616766	missense	probably benign	0.00
R9336:Pcca	UTSW	14	122650326	missense	probably benign	0.04
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'- AGGCTTTTGAAGAGCAGCGC -3'
(R):5'- TCAACACAGAAGCTTTACTCACATGTC -3'

Sequencing Primer
(F):5'- TGAAGAGCAGCGCCTTTG -3'
(R):5'- GTCCTGCTTCTCACACCAAGATG -3'

Posted On

2014-08-25