Mutagenetix > Incidental Mutation

Incidental Mutation 'R5023:Pcca'

391165

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

042614-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122534324-122891100 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122790398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 73 (N73D)

Ref Sequence

ENSEMBL: ENSMUSP00000135266 (fasta)

Gene Model

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

AlphaFold

Q91ZA3

Predicted Effect

probably benign
Transcript: ENSMUST00000038374
AA Change: N593D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: N593D

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

noncoding transcript
Transcript: ENSMUST00000128893

Predicted Effect

probably benign
Transcript: ENSMUST00000132444

Predicted Effect

probably damaging
Transcript: ENSMUST00000152383
AA Change: N73D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650
AA Change: N73D

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

0.1309

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (127/129)

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: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,166,755	H739Q	probably benign	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Abca8b	A	G	11: 109,974,988		probably null	Het
Adam1b	C	T	5: 121,501,159	V608M	probably damaging	Het
Ank2	A	G	3: 126,941,871		probably benign	Het
Ankrd17	A	C	5: 90,282,868	L1019R	probably damaging	Het
Arih1	T	C	9: 59,486,232	N39S	unknown	Het
Best3	G	A	10: 116,988,742	V38I	probably benign	Het
Bicc1	A	G	10: 70,947,883	S393P	possibly damaging	Het
C1d	T	A	11: 17,266,674	N135K	probably benign	Het
Cage1	G	T	13: 38,011,411	S778*	probably null	Het
Capn7	T	A	14: 31,352,426	V262E	probably damaging	Het
Ccdc190	A	G	1: 169,933,087	R95G	probably damaging	Het
Cd163	C	T	6: 124,325,288	T937I	probably damaging	Het
Cdh18	G	A	15: 23,259,666	S194N	probably damaging	Het
Clec4b2	A	T	6: 123,200,956	S77C	probably null	Het
Ctsw	T	A	19: 5,466,049	D237V	probably damaging	Het
Cyp2c68	G	A	19: 39,712,507	T289I	probably benign	Het
Cyp4f39	A	G	17: 32,481,104	Y133C	probably damaging	Het
Dlg5	T	C	14: 24,136,622	E1847G	probably damaging	Het
Dnah7a	C	A	1: 53,647,248	E248*	probably null	Het
Eef2kmt	T	A	16: 5,247,599	D248V	probably damaging	Het
Ewsr1	T	C	11: 5,088,054	T113A	possibly damaging	Het
Fbxo4	A	G	15: 3,977,756		probably null	Het
Fbxo43	A	T	15: 36,162,929	M44K	probably benign	Het
Fchsd1	A	G	18: 37,964,810	I340T	possibly damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Gfm1	T	C	3: 67,473,544	V664A	probably damaging	Het
Glp2r	T	C	11: 67,741,032	T121A	possibly damaging	Het
Gm10803	A	C	2: 93,564,172	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241	G327E	probably damaging	Het
Gm5155	A	T	7: 17,902,706	D236V	probably damaging	Het
Gm7030	A	G	17: 36,109,415		probably benign	Het
Gnb2	G	A	5: 137,529,940		probably null	Het
Gpc4	G	A	X: 52,074,563	R148C	probably damaging	Het
Gpx5	C	T	13: 21,288,745	V140I	probably damaging	Het
Gtpbp1	A	T	15: 79,719,221	Q637L	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hhat	A	T	1: 192,727,339	L138Q	probably damaging	Het
Hipk1	G	T	3: 103,777,507	T264N	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587	A144S	probably damaging	Het
Hook3	TAGAG	TAG	8: 26,032,019		probably null	Het
Ifi204	G	A	1: 173,751,740	T513I	possibly damaging	Het
Ino80b	G	T	6: 83,125,042	S26R	probably damaging	Het
Ints9	T	A	14: 64,980,228	L68H	probably damaging	Het
Isx	C	T	8: 74,892,714	T178I	probably benign	Het
Kel	A	G	6: 41,688,111	L255P	probably damaging	Het
Klf11	T	A	12: 24,655,359	S271T	probably benign	Het
Klhl20	A	C	1: 161,109,220		probably null	Het
Lama2	G	A	10: 27,190,504	T1127I	probably damaging	Het
Larp1b	T	A	3: 41,033,985	N81K	possibly damaging	Het
Lsm11	T	C	11: 45,944,839	D25G	probably damaging	Het
Map3k20	T	A	2: 72,402,345		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Milr1	A	G	11: 106,766,965	D131G	possibly damaging	Het
Mybpc1	T	G	10: 88,543,774	D635A	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Ndufa7	A	G	17: 33,824,603		probably benign	Het
Ndufs3	C	A	2: 90,898,660	A161S	probably benign	Het
Neo1	T	C	9: 58,990,271	D134G	probably damaging	Het
Nme4	G	A	17: 26,093,668	T129I	probably benign	Het
Npffr2	A	T	5: 89,582,687	T159S	probably benign	Het
Nup153	A	T	13: 46,681,109		probably benign	Het
Olfr139	T	A	11: 74,045,055	D73V	probably damaging	Het
Olfr616	A	C	7: 103,565,171	M36R	possibly damaging	Het
Pate2	T	C	9: 35,686,111		probably benign	Het
Pip5k1c	G	A	10: 81,310,889		probably null	Het
Pkhd1l1	A	T	15: 44,528,191	H1551L	probably benign	Het
Pkhd1l1	G	A	15: 44,582,227	M3768I	probably benign	Het
Ppa2	A	G	3: 133,370,434	M275V	probably benign	Het
Ptpn23	G	A	9: 110,388,556	T744I	probably benign	Het
Ptprv	A	T	1: 135,124,506		noncoding transcript	Het
Rad17	A	T	13: 100,645,063	H75Q	possibly damaging	Het
Rbm44	T	C	1: 91,169,098		probably null	Het
Rbpj	C	T	5: 53,649,415	R201W	probably damaging	Het
Rbpjl	C	A	2: 164,410,289	L215I	probably damaging	Het
Ror1	A	G	4: 100,425,932	E398G	probably benign	Het
Scamp3	T	A	3: 89,182,293		probably benign	Het
Selenot	CATGTATG	CATGTATGTATG	3: 58,588,453		probably null	Het
Siglec15	A	G	18: 78,048,675	C104R	probably damaging	Het
Sis	T	C	3: 72,934,122	I787V	probably benign	Het
Slc17a8	T	C	10: 89,576,560	D521G	probably benign	Het
Slc7a10	T	A	7: 35,197,355	M172K	possibly damaging	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Slitrk3	T	C	3: 73,050,648	T264A	probably benign	Het
Smg8	A	C	11: 87,086,137	V206G	probably damaging	Het
Smg9	A	G	7: 24,405,872	K137R	possibly damaging	Het
Srrm2	C	A	17: 23,819,317		probably benign	Het
Sult2a2	T	A	7: 13,734,860	Y84N	possibly damaging	Het
Syngr2	A	T	11: 117,812,510	I34F	probably benign	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Tead4	T	C	6: 128,294,171		probably benign	Het
Tex36	A	T	7: 133,595,290	C33S	probably benign	Het
Timm21	C	A	18: 84,949,414	V112L	possibly damaging	Het
Tmem240	T	A	4: 155,739,674	L92Q	probably damaging	Het
Tmem268	C	G	4: 63,568,540	S100C	probably damaging	Het
Tmod3	G	A	9: 75,511,206	P183S	probably damaging	Het
Trappc10	G	T	10: 78,217,160	F260L	possibly damaging	Het
Trim16	A	T	11: 62,836,812	Y233F	probably benign	Het
Trmt112	T	C	19: 6,910,753	V91A	probably benign	Het
Ttc3	A	G	16: 94,429,359	E450G	probably benign	Het
Ttk	A	G	9: 83,863,541	D647G	probably damaging	Het
Ubash3b	A	G	9: 41,037,459	C187R	possibly damaging	Het
Vmn1r29	T	A	6: 58,308,067	Y257*	probably null	Het
Vmn1r33	T	C	6: 66,612,105	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vps16	A	G	2: 130,439,452	S235G	probably benign	Het
Vwde	T	C	6: 13,192,642	I421V	possibly damaging	Het
Xiap	T	C	X: 42,094,465	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380	T385A	probably benign	Het
Zbtb11	A	G	16: 56,006,065	Y819C	probably damaging	Het
Zfp112	A	G	7: 24,126,484	T624A	probably damaging	Het
Zfp592	A	G	7: 81,024,347	D353G	probably damaging	Het
Zfp62	T	A	11: 49,215,729	S216T	probably damaging	Het
Zfp677	A	T	17: 21,397,794	H371L	probably damaging	Het
Zfp780b	T	C	7: 27,963,448	K561E	possibly damaging	Het
Zfp936	G	A	7: 43,187,257	D31N	probably damaging	Het
Znfx1	T	C	2: 167,039,826	Y217C	probably damaging	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	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
R2086:Pcca	UTSW	14	122686115	missense	probably damaging	0.99
R3780:Pcca	UTSW	14	122684885	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

Predicted Primers

PCR Primer
(F):5'- TTCATGGCTGCAGCAGTAAAC -3'
(R):5'- GCTCCAAATTCCCTAGTATAACAAG -3'

Sequencing Primer
(F):5'- CATGACAGGTTGTTTGGAAGCCATC -3'
(R):5'- GTATTAGCCACATAGAGAAGG -3'

Posted On

2016-06-06