Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122771736-123128512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122923527 bp (GRCm39)

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]

AlphaFold

Q91ZA3

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: 124,917,767 (GRCm39)	M53T	unknown	Het
Abcb11	T	A	2: 69,089,820 (GRCm39)		probably benign	Het
Acap2	C	G	16: 30,929,763 (GRCm39)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,146,249 (GRCm39)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,954,536 (GRCm39)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,241,944 (GRCm39)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,171,116 (GRCm39)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,734,834 (GRCm39)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,468,304 (GRCm39)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,623,810 (GRCm39)	V37D	probably damaging	Het
Cacna1d	T	C	14: 29,769,314 (GRCm39)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,148,570 (GRCm39)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,349 (GRCm39)	E256G	probably damaging	Het
Cd5	A	G	19: 10,700,620 (GRCm39)	S295P	probably benign	Het
Cenpb	T	C	2: 131,020,517 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 64,942,076 (GRCm39)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,644,786 (GRCm39)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm39)		probably benign	Het
Csnk2a1	A	G	2: 152,096,201 (GRCm39)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,011,733 (GRCm39)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,981,116 (GRCm39)	Q98L	probably null	Het
Dnah11	G	T	12: 118,077,606 (GRCm39)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Eid2b	C	T	7: 27,977,198 (GRCm39)		probably benign	Het
Exoc1	A	T	5: 76,680,693 (GRCm39)	K28*	probably null	Het
Fam114a1	A	G	5: 65,137,402 (GRCm39)	D115G	probably benign	Het
Fam151a	A	T	4: 106,592,760 (GRCm39)		probably null	Het
Gc	T	C	5: 89,586,201 (GRCm39)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 86,926,094 (GRCm39)	Y284H	probably benign	Het
Gm21957	T	A	7: 124,818,878 (GRCm39)		noncoding transcript	Het
Golm1	G	A	13: 59,792,999 (GRCm39)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm39)	V813A	probably damaging	Het
Itih1	C	T	14: 30,659,800 (GRCm39)	A279T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	T	C	17: 68,124,618 (GRCm39)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,657,887 (GRCm39)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,472,642 (GRCm39)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,228,729 (GRCm39)	K316R	probably benign	Het
Mapre3	A	C	5: 31,020,546 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,737,962 (GRCm39)		probably null	Het
Mical2	A	C	7: 111,917,810 (GRCm39)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,711,248 (GRCm39)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nodal	A	T	10: 61,259,077 (GRCm39)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,009,683 (GRCm39)	S537P	probably damaging	Het
Obox6	A	G	7: 15,567,532 (GRCm39)	L305S	probably damaging	Het
Obscn	T	C	11: 58,969,082 (GRCm39)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,494,090 (GRCm39)	S229R	probably benign	Het
Pcdh10	T	C	3: 45,334,906 (GRCm39)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,516,044 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,101,619 (GRCm39)	N72S	probably benign	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Pygm	G	A	19: 6,441,511 (GRCm39)		probably null	Het
Rab7	C	T	6: 87,989,300 (GRCm39)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,009,431 (GRCm39)		probably null	Het
Rergl	T	C	6: 139,471,832 (GRCm39)	T106A	probably benign	Het
Rnf17	T	G	14: 56,720,837 (GRCm39)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,633,126 (GRCm39)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,600,280 (GRCm39)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,585,874 (GRCm39)	T140A	possibly damaging	Het
Sbno2	T	A	10: 79,893,690 (GRCm39)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,641,521 (GRCm39)	I68N	probably damaging	Het
Slc35a5	A	G	16: 44,964,628 (GRCm39)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,651,772 (GRCm39)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,593,487 (GRCm39)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Spag1	T	C	15: 36,227,287 (GRCm39)	L648P	probably damaging	Het
Tagap1	T	C	17: 7,224,102 (GRCm39)	D198G	probably benign	Het
Tedc2	T	C	17: 24,436,874 (GRCm39)	E287G	probably damaging	Het
Tjp1	C	A	7: 64,962,669 (GRCm39)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ttc38	T	A	15: 85,722,928 (GRCm39)	D125E	probably benign	Het
Uggt1	C	T	1: 36,231,495 (GRCm39)	R490Q	probably null	Het
Uroc1	T	G	6: 90,321,096 (GRCm39)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,997,455 (GRCm39)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,896,949 (GRCm39)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,857,571 (GRCm39)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm39)	L932P	probably damaging	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
R2020:Pcca	UTSW	14	123,050,634 (GRCm39)	missense	possibly damaging	0.64
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'- GCTAAACTCTGCTTGTGGTTC -3'
(R):5'- GAAATGACTCCCCATGAATTTCCC -3'

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

Posted On

2014-09-18