Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122771736-123128512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123050634 bp (GRCm39)

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: 158,796,482 (GRCm39)		noncoding transcript	Het
Adam17	G	A	12: 21,399,876 (GRCm39)	R177C	probably damaging	Het
Ak7	G	A	12: 105,711,591 (GRCm39)		probably null	Het
Akap9	T	C	5: 4,011,967 (GRCm39)	V890A	probably damaging	Het
Alg6	A	G	4: 99,626,369 (GRCm39)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,429,375 (GRCm39)	A43S	probably benign	Het
Anxa2	C	A	9: 69,391,099 (GRCm39)	D162E	probably damaging	Het
Arap1	A	G	7: 101,050,725 (GRCm39)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,730,900 (GRCm39)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,762,891 (GRCm39)	T716S	unknown	Het
Atg2a	T	C	19: 6,300,299 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,770 (GRCm39)	I480V	probably null	Het
Cdipt	T	C	7: 126,576,105 (GRCm39)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 47,067,902 (GRCm39)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm39)	V2152I	probably benign	Het
Chd8	T	A	14: 52,452,698 (GRCm39)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,095,782 (GRCm39)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,309,577 (GRCm39)		probably benign	Het
Col20a1	G	A	2: 180,654,956 (GRCm39)		probably null	Het
Cped1	A	G	6: 22,143,963 (GRCm39)	I570V	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Ddx27	A	C	2: 166,875,691 (GRCm39)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,333,158 (GRCm39)	F131L	probably damaging	Het
Dhx38	G	A	8: 110,283,501 (GRCm39)		probably benign	Het
Dido1	G	T	2: 180,301,378 (GRCm39)	N2175K	unknown	Het
Dmxl1	T	A	18: 50,022,625 (GRCm39)	Y1654*	probably null	Het
Dock7	T	A	4: 98,847,338 (GRCm39)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm39)	I555V	probably benign	Het
Eif2ak2	T	C	17: 79,171,392 (GRCm39)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,315,209 (GRCm39)	D46V	probably benign	Het
Fcgbpl1	T	C	7: 27,855,019 (GRCm39)	S1882P	probably benign	Het
Fech	C	T	18: 64,611,798 (GRCm39)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,362 (GRCm39)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,643 (GRCm39)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,710,894 (GRCm39)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,445,947 (GRCm39)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,723,906 (GRCm39)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,424,585 (GRCm39)	L201*	probably null	Het
Ift70a1	A	G	2: 75,811,279 (GRCm39)	V268A	probably benign	Het
Il1rl2	C	A	1: 40,404,374 (GRCm39)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,545,903 (GRCm39)	R489W	probably damaging	Het
Itga10	G	A	3: 96,559,806 (GRCm39)	G487D	probably damaging	Het
Klk1b8	A	G	7: 43,448,640 (GRCm39)	N128D	probably benign	Het
Lgr6	G	A	1: 135,003,013 (GRCm39)	T79M	probably damaging	Het
Med6	T	C	12: 81,620,651 (GRCm39)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,469,060 (GRCm39)	L328P	probably damaging	Het
Mttp	A	G	3: 137,824,163 (GRCm39)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,473,690 (GRCm39)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,830,287 (GRCm39)		probably null	Het
Nlgn2	G	T	11: 69,719,267 (GRCm39)	N194K	probably damaging	Het
Or1q1	G	A	2: 36,887,664 (GRCm39)	V281M	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Or5b98	G	A	19: 12,931,696 (GRCm39)	V248I	possibly damaging	Het
Or5m13b	A	G	2: 85,754,087 (GRCm39)	I158M	probably benign	Het
Or8c16	A	G	9: 38,130,728 (GRCm39)	Y203C	possibly damaging	Het
Plekha6	A	G	1: 133,212,708 (GRCm39)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,232,536 (GRCm39)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,284,332 (GRCm39)	V501I	probably benign	Het
Prom1	T	A	5: 44,168,595 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,051,398 (GRCm39)	V41A	probably damaging	Het
Rab39	C	T	9: 53,597,698 (GRCm39)	G189E	possibly damaging	Het
Ret	T	C	6: 118,157,343 (GRCm39)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,596,153 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,352,744 (GRCm39)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,072,665 (GRCm39)	N336S	probably damaging	Het
Sag	G	A	1: 87,733,037 (GRCm39)	A2T	probably damaging	Het
Sco2	T	C	15: 89,256,063 (GRCm39)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,408,864 (GRCm39)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,781,377 (GRCm39)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,727,339 (GRCm39)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,586,013 (GRCm39)	L17P	probably damaging	Het
Sqor	T	C	2: 122,646,027 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,292,588 (GRCm39)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,607,732 (GRCm39)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,570,658 (GRCm39)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,060,765 (GRCm39)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,074,305 (GRCm39)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,270,384 (GRCm39)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,655,773 (GRCm39)	S751P	probably damaging	Het
Ttn	A	G	2: 76,657,368 (GRCm39)		probably benign	Het
Ugdh	T	C	5: 65,574,268 (GRCm39)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,578,094 (GRCm39)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,761,448 (GRCm39)	C636*	probably null	Het
Vmn2r59	A	C	7: 41,693,203 (GRCm39)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,702,242 (GRCm39)	G163D	unknown	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
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
R8463:Pcca	UTSW	14	122,922,526 (GRCm39)	splice site	probably null
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'- AGGCTTTTGAAGAGCAGCGC -3'
(R):5'- TCAACACAGAAGCTTTACTCACATGTC -3'

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

Posted On

2014-08-25