Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Pcca'

306217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

122534324-122891100 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122534388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 8 (T8S)

Ref Sequence

ENSEMBL: ENSMUSP00000120027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000135578] [ENSMUST00000154206]

AlphaFold

Q91ZA3

Predicted Effect

probably benign
Transcript: ENSMUST00000038374
AA Change: T8S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: T8S

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: ENSMUST00000135578
AA Change: T8S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123422
Gene: ENSMUSG00000041650
AA Change: T8S

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	58	102	6.1e-15	PFAM
Pfam:CPSase_L_D2	116	163	9.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148172

Predicted Effect

probably benign
Transcript: ENSMUST00000154206
AA Change: T8S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000120027
Gene: ENSMUSG00000041650
AA Change: T8S

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	43	128	5.7e-27	PFAM

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	C	5: 90,571,765	V240A	possibly damaging	Het
9230104M06Rik	T	C	12: 113,000,175	D61G	probably benign	Het
Ascc2	G	A	11: 4,640,481		probably null	Het
Atrn	G	T	2: 130,947,734		probably benign	Het
Atrn	C	T	2: 130,970,144	Q670*	probably null	Het
Calr	A	C	8: 84,844,488	W236G	probably damaging	Het
Camk2g	T	A	14: 20,766,016		probably null	Het
Cd101	G	T	3: 101,020,399	T122K	probably damaging	Het
Col4a3bp	T	A	13: 96,629,135	N469K	possibly damaging	Het
Cryl1	T	C	14: 57,303,724	T168A	probably benign	Het
Diaph3	A	G	14: 86,918,825	I684T	probably damaging	Het
Ednrb	A	T	14: 103,823,059	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,639,292	D3G	probably damaging	Het
Eny2	C	T	15: 44,429,635	R28C	possibly damaging	Het
Epsti1	A	G	14: 77,939,923	E181G	probably damaging	Het
Ezh2	A	G	6: 47,533,764	F598S	probably damaging	Het
Fat3	G	T	9: 16,006,711	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,638,147	I262F	probably benign	Het
Gm15448	A	G	7: 3,822,625	I415T	probably damaging	Het
Gpat4	A	T	8: 23,180,870	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,339,675	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,935,889	V36I	possibly damaging	Het
Hip1	T	C	5: 135,444,751	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,061,991	M1K	probably null	Het
Irx2	G	A	13: 72,631,310	D238N	probably damaging	Het
Kcnip4	T	A	5: 48,409,785		probably benign	Het
Lair1	G	A	7: 4,028,901	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,249,853	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,815,806	E639K	probably benign	Het
Mc4r	A	G	18: 66,859,662	S127P	probably damaging	Het
Mmp23	A	G	4: 155,651,532	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,826,591	S587P	possibly damaging	Het
Myh9	A	T	15: 77,807,986	Y124*	probably null	Het
Nek9	C	A	12: 85,305,507	A861S	probably benign	Het
Nup155	T	A	15: 8,134,076	Y576N	probably damaging	Het
Olfr1128	C	T	2: 87,544,657	V296M	probably damaging	Het
Pcdh15	A	G	10: 74,631,068	D1573G	probably benign	Het
Pdpr	T	A	8: 111,118,090	V373E	probably benign	Het
Pdzph1	A	T	17: 58,932,483	L950Q	possibly damaging	Het
Prss35	A	C	9: 86,756,244	K356Q	probably damaging	Het
Psg22	A	T	7: 18,723,019	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,427,704	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,563,145		probably benign	Het
Slc35b2	G	A	17: 45,566,567	V207I	probably benign	Het
Sparcl1	T	G	5: 104,092,880	E226A	possibly damaging	Het
Srms	C	A	2: 181,209,509	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,659,954	I44N	probably damaging	Het
Tmem236	C	T	2: 14,219,321	T307M	probably damaging	Het
Ush2a	C	T	1: 188,946,958	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,606,291	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,726,860	*121R	probably null	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
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
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
R9447:Pcca	UTSW	14	122616878	missense	probably damaging	0.99
R9606:Pcca	UTSW	14	122664305	missense	probably damaging	1.00
RF024:Pcca	UTSW	14	122684898	missense	probably damaging	1.00
X0026:Pcca	UTSW	14	122616791	missense	possibly damaging	0.51

Posted On

2015-04-16