Mutagenetix > Incidental Mutation

Incidental Mutation 'R6989:Pcca'

543165

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

045095-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6989 (G1)

Quality Score

208.009

Status

Not validated

Chromosome

Chromosomal Location

122771736-123128512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122887700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 102 (G102D)

Gene Model

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

AlphaFold

Q91ZA3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038374
AA Change: G221D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: G221D

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

SMART Domains

Protein: ENSMUSP00000123422
Gene: ENSMUSG00000041650

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

probably damaging
Transcript: ENSMUST00000177312
AA Change: G102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	C	T	11: 3,840,076 (GRCm39)	R107H	probably damaging	Het
4930438A08Rik	T	C	11: 58,178,228 (GRCm39)	V96A	possibly damaging	Het
Abcc2	A	G	19: 43,820,611 (GRCm39)	D1370G	probably damaging	Het
Abcc9	T	A	6: 142,634,707 (GRCm39)	N186Y	probably damaging	Het
Adcy7	T	C	8: 89,035,414 (GRCm39)	V106A	probably benign	Het
Adgra3	A	G	5: 50,164,226 (GRCm39)	F251S	probably damaging	Het
Akr1c6	T	A	13: 4,499,045 (GRCm39)	I33N	probably damaging	Het
Alk	A	C	17: 72,204,947 (GRCm39)	M1075R	probably benign	Het
Amh	A	G	10: 80,641,338 (GRCm39)	Q86R	probably benign	Het
Aox1	T	C	1: 58,124,611 (GRCm39)	Y951H	probably damaging	Het
Arhgap26	G	T	18: 39,232,682 (GRCm39)	R119L	probably damaging	Het
Arl8a	A	G	1: 135,074,735 (GRCm39)	K7R	probably benign	Het
Birc6	T	G	17: 74,937,984 (GRCm39)	S2638A	probably benign	Het
Ccdc162	T	G	10: 41,457,349 (GRCm39)	Q256H	probably damaging	Het
Cenpe	T	A	3: 134,940,888 (GRCm39)	L679Q	probably damaging	Het
Cpa5	T	A	6: 30,625,891 (GRCm39)	H203Q	probably benign	Het
Cpne9	A	T	6: 113,277,544 (GRCm39)	D421V	possibly damaging	Het
Cux1	A	T	5: 136,308,502 (GRCm39)	C1212*	probably null	Het
Dock9	G	A	14: 121,864,791 (GRCm39)	H736Y	probably damaging	Het
Dpp3	A	T	19: 4,971,195 (GRCm39)	V214E	probably damaging	Het
Dtx3	T	C	10: 127,028,746 (GRCm39)	E161G	probably benign	Het
Ect2	A	T	3: 27,156,637 (GRCm39)	Y774*	probably null	Het
Enpep	G	T	3: 129,074,599 (GRCm39)	P717H	probably damaging	Het
Erich3	A	T	3: 154,469,314 (GRCm39)		probably benign	Het
Fbp2	C	T	13: 63,005,991 (GRCm39)	A41T	probably damaging	Het
Fbxl21	T	C	13: 56,674,874 (GRCm39)	V75A	probably damaging	Het
Fkbp5	C	T	17: 28,634,919 (GRCm39)	D197N	probably benign	Het
Fsip2	A	G	2: 82,807,298 (GRCm39)	T1206A	probably benign	Het
Ggt7	A	G	2: 155,345,380 (GRCm39)	V156A	probably benign	Het
Gpi1	T	C	7: 33,901,945 (GRCm39)	K156R	probably damaging	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Grm7	G	A	6: 111,184,766 (GRCm39)	E366K	probably damaging	Het
Haao	T	C	17: 84,139,103 (GRCm39)	Q277R	probably damaging	Het
Lama1	T	C	17: 68,060,753 (GRCm39)	S694P		Het
Lrp10	A	G	14: 54,705,950 (GRCm39)	D380G	probably benign	Het
Lrp2	C	A	2: 69,302,799 (GRCm39)	D2977Y	probably damaging	Het
Map2	T	A	1: 66,454,065 (GRCm39)	M985K	probably benign	Het
Met	C	A	6: 17,535,927 (GRCm39)	N784K	possibly damaging	Het
Met	T	A	6: 17,535,928 (GRCm39)	Y65N	probably damaging	Het
Muc6	T	G	7: 141,226,246 (GRCm39)		probably benign	Het
Numbl	T	A	7: 26,980,265 (GRCm39)	W416R	probably damaging	Het
Nup160	G	A	2: 90,537,364 (GRCm39)	S746N	probably benign	Het
Pira13	T	A	7: 3,825,163 (GRCm39)	Y493F	possibly damaging	Het
Psmc2	T	A	5: 22,006,217 (GRCm39)	F243L	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rpn1	G	T	6: 88,076,285 (GRCm39)	V357L	probably benign	Het
Rtn3	A	G	19: 7,433,856 (GRCm39)	F712S	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,574 (GRCm39)	D54E	probably benign	Het
Scn5a	A	G	9: 119,315,395 (GRCm39)	I1771T	probably damaging	Het
Sec14l1	A	G	11: 117,047,220 (GRCm39)	I633V	probably damaging	Het
Slc17a6	T	C	7: 51,311,224 (GRCm39)	Y313H	possibly damaging	Het
Slc18a1	G	A	8: 69,491,514 (GRCm39)	T500I	probably benign	Het
Slx4	G	A	16: 3,813,702 (GRCm39)	A93V	probably damaging	Het
Stat4	T	C	1: 52,107,974 (GRCm39)	S148P	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trav3-3	C	A	14: 53,903,802 (GRCm39)	P40Q	possibly damaging	Het
Trpv6	A	T	6: 41,602,390 (GRCm39)	L332Q	probably damaging	Het
Ube2t	T	G	1: 134,897,033 (GRCm39)	V55G	probably damaging	Het
Ufm1	T	C	3: 53,765,402 (GRCm39)	K69E	probably damaging	Het
Utp20	T	C	10: 88,614,102 (GRCm39)	D1284G	probably benign	Het
Vil1	C	T	1: 74,463,113 (GRCm39)	T432I	probably damaging	Het
Vps13b	T	A	15: 35,448,727 (GRCm39)	I567K	probably benign	Het
Zfp236	A	T	18: 82,646,488 (GRCm39)	V1023D	probably damaging	Het
Zfp429	A	G	13: 67,538,080 (GRCm39)	Y455H	probably benign	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
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
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'- GCACATGTTTGCCTGCTATC -3'
(R):5'- ACCTTTCTGTGGTAGGGTAATTATC -3'

Sequencing Primer
(F):5'- ACATGTTTGCCTGCTATCTAAACTG -3'
(R):5'- CAGAAGGAAGATTTCTGCATAGTATC -3'

Posted On

2018-11-28