Mutagenetix > Incidental Mutations

Incidental Mutation 'R5644:Pcca'

441006

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

043292-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122534324-122891100 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122887069 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 684 (C684Y)

Ref Sequence

ENSEMBL: ENSMUSP00000038763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038075] [ENSMUST00000038374] [ENSMUST00000110679] [ENSMUST00000152383] [ENSMUST00000160401] [ENSMUST00000161322] [ENSMUST00000162164]

Predicted Effect

probably benign
Transcript: ENSMUST00000038075

SMART Domains

Protein: ENSMUSP00000037278
Gene: ENSMUSG00000041625

Domain	Start	End	E-Value	Type
Pfam:GGACT	4	135	3e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038374
AA Change: C684Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: C684Y

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

probably benign
Transcript: ENSMUST00000132444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140517

Predicted Effect

probably benign
Transcript: ENSMUST00000152383

SMART Domains

Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160401

SMART Domains

Protein: ENSMUSP00000124954
Gene: ENSMUSG00000041625

Domain	Start	End	E-Value	Type
Pfam:AIG2	4	118	7.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161322

Predicted Effect

probably benign
Transcript: ENSMUST00000162164

SMART Domains

Protein: ENSMUSP00000123721
Gene: ENSMUSG00000041625

Domain	Start	End	E-Value	Type
Pfam:AIG2	4	103	9.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177312

Meta Mutation Damage Score

0.2963

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,432,934	D805E	probably damaging	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384	V559F	probably damaging	Het
Apba2	A	G	7: 64,715,511	T346A	probably benign	Het
Arhgap10	C	T	8: 77,411,055	M302I	probably benign	Het
Asah1	G	T	8: 41,360,295	T27K	possibly damaging	Het
Bag2	A	G	1: 33,746,953	V96A	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
C4b	T	C	17: 34,742,417	I189M	probably benign	Het
Cacna1a	A	G	8: 84,462,777	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Ccar1	T	C	10: 62,771,978	N302S	probably benign	Het
Ccdc93	A	G	1: 121,483,336	H446R	probably benign	Het
Cct6b	A	T	11: 82,722,455	L420Q	probably benign	Het
Cemip	T	C	7: 83,989,184	T273A	probably benign	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cfap221	A	G	1: 119,932,802	L698P	probably damaging	Het
Cfap43	T	A	19: 47,795,675	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,383,601	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,615,694	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,238,873	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,540,979	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dpp8	G	A	9: 65,045,735	W231*	probably null	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Fgd6	T	A	10: 94,134,050	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,627,250	Y875N	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,559,312	D52G	probably damaging	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gpam	A	T	19: 55,088,899	D153E	probably benign	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,955,948	V297D	probably damaging	Het
Ighv1-85	A	T	12: 116,000,060	S107T	possibly damaging	Het
Kif12	T	A	4: 63,165,893	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,238,482	D660G	probably damaging	Het
Klf13	T	C	7: 63,891,560		probably benign	Het
Klhl41	A	G	2: 69,670,471	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lao1	T	A	4: 118,965,236		probably null	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lyst	A	T	13: 13,637,496	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,094,210	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mrgprb5	G	A	7: 48,168,207	T260I	probably benign	Het
Mybpc2	T	C	7: 44,507,053	T825A	probably benign	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Naalad2	G	T	9: 18,334,931	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,179,477	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973	W366R	probably null	Het
Nipbl	C	T	15: 8,358,907	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,558,568	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,392,750	N46D	probably benign	Het
Olfr1037	T	C	2: 86,085,159	N206S	probably damaging	Het
Olfr116	T	A	17: 37,624,432	I68F	probably benign	Het
Olfr1188	T	A	2: 88,559,505	M1K	probably null	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1443	A	T	19: 12,680,972	Y288F	probably damaging	Het
Olfr290	C	A	7: 84,916,119	F113L	probably benign	Het
Olfr482	A	T	7: 108,094,804	Y255*	probably null	Het
Olfr484	A	G	7: 108,124,651	F204S	probably benign	Het
Olfr791	A	T	10: 129,527,103	N292I	probably damaging	Het
Olfr813	T	A	10: 129,857,427	V303E	probably benign	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pdzd7	A	G	19: 45,040,180	S175P	probably benign	Het
Pgbd1	A	G	13: 21,423,152	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Pramef25	C	T	4: 143,948,804	G484D	probably benign	Het
Prkcd	C	A	14: 30,607,413	K23N	probably benign	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rad54l	C	T	4: 116,098,947	S561N	probably benign	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Rtl1	C	T	12: 109,591,579	M1275I	probably benign	Het
Ryr2	C	A	13: 11,595,582	E4119D	probably damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562	T8S	probably benign	Het
Slc22a30	T	C	19: 8,404,616	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,237,594		probably null	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Snap91	G	T	9: 86,790,153		probably null	Het
Srsf10	T	C	4: 135,863,820	S194P	possibly damaging	Het
St14	T	C	9: 31,106,510	M205V	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,028,959	D163V	probably benign	Het
Trim15	T	C	17: 36,866,821	E94G	probably damaging	Het
Trit1	T	C	4: 123,049,172	I279T	probably damaging	Het
Trpm8	T	A	1: 88,359,739	F815I	possibly damaging	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,416,861	D446E	probably benign	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,703,769	L550P	probably damaging	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
R5023:Pcca	UTSW	14	122790398	missense	probably damaging	1.00
R5643: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
R7924:Pcca	UTSW	14	122562972	missense	probably benign	0.03
R8026:Pcca	UTSW	14	122638382	missense	probably benign	0.07
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'- AATGGCTTTTCTCTGCTGGC -3'
(R):5'- GGAATTCCCCAGTCCCAATG -3'

Sequencing Primer
(F):5'- TGGCTCCTCAGATGCACTG -3'
(R):5'- GTCCCAATGTCCACCCAGG -3'

Posted On

2016-11-08