Mutagenetix > Incidental Mutation

Incidental Mutation 'R1402:Pcx'

188585

Institutional Source

Beutler Lab

Gene Symbol

Pcx

Ensembl Gene

ENSMUSG00000024892

Gene Name

pyruvate carboxylase

Synonyms

MMRRC Submission

039464-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4560500-4671780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4652058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 101 (D101G)

Ref Sequence

ENSEMBL: ENSMUSP00000152918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000224726] [ENSMUST00000225189]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068004
AA Change: D102G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: D102G

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:CPSase_L_chain	37	147	3.3e-45	PFAM
Pfam:ATP-grasp_4	149	334	3.9e-19	PFAM
Pfam:CPSase_L_D2	152	361	7.2e-77	PFAM
Pfam:Dala_Dala_lig_C	161	329	1.5e-11	PFAM
Biotin_carb_C	376	483	1.21e-50	SMART
low complexity region	513	541	N/A	INTRINSIC
Pfam:HMGL-like	564	838	8.2e-29	PFAM
Pfam:PYC_OADA	862	1062	1.4e-72	PFAM
Pfam:Biotin_lipoyl	1111	1178	1.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113825
AA Change: D101G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: D101G

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:CPSase_L_chain	36	146	1.1e-43	PFAM
Pfam:ATP-grasp_4	148	332	2.9e-19	PFAM
Pfam:CPSase_L_D2	151	360	4.2e-77	PFAM
Pfam:Dala_Dala_lig_C	158	328	7.9e-13	PFAM
Biotin_carb_C	375	482	1.21e-50	SMART
low complexity region	512	540	N/A	INTRINSIC
Pfam:HMGL-like	571	821	3.4e-28	PFAM
Pfam:PYC_OADA	861	1062	3.4e-69	PFAM
Pfam:Biotin_lipoyl	1110	1177	1.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224726
AA Change: D101G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225189
AA Change: D101G

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp8	T	A	7: 123,065,862 (GRCm39)	V219E	probably damaging	Het
Birc6	T	A	17: 75,004,528 (GRCm39)		probably benign	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Dlg5	T	C	14: 24,226,676 (GRCm39)	S409G	probably benign	Het
Ehmt2	C	T	17: 35,125,757 (GRCm39)	T607I	probably benign	Het
H2-T22	A	T	17: 36,351,161 (GRCm39)	I307N	possibly damaging	Het
Itih3	T	C	14: 30,630,665 (GRCm39)	D882G	probably damaging	Het
Kmt5c	G	T	7: 4,745,252 (GRCm39)	R81L	possibly damaging	Het
Mcm3ap	C	T	10: 76,313,748 (GRCm39)		probably benign	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nr1i2	A	G	16: 38,073,245 (GRCm39)	S244P	probably damaging	Het
Prkch	T	C	12: 73,632,163 (GRCm39)	V76A	probably damaging	Het
Skic3	A	G	13: 76,279,533 (GRCm39)	Y655C	probably damaging	Het
Thsd1	A	G	8: 22,749,384 (GRCm39)	K691E	possibly damaging	Het
Tmprss11e	G	A	5: 86,863,477 (GRCm39)	T196I	probably damaging	Het
Trappc13	A	G	13: 104,286,624 (GRCm39)	V211A	probably damaging	Het
Vav1	C	A	17: 57,610,849 (GRCm39)	L472I	probably benign	Het
Wdr25	G	A	12: 108,992,465 (GRCm39)	E459K	probably damaging	Het
Zdbf2	A	T	1: 63,342,786 (GRCm39)	E388D	possibly damaging	Het
Zfp663	T	C	2: 165,195,890 (GRCm39)	K110E	probably benign	Het
Zfp78	C	A	7: 6,381,618 (GRCm39)	H223N	probably damaging	Het

Other mutations in Pcx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Pcx	APN	19	4,670,965 (GRCm39)	missense	probably benign	0.02
IGL01339:Pcx	APN	19	4,670,263 (GRCm39)	splice site	probably null
IGL01373:Pcx	APN	19	4,670,263 (GRCm39)	splice site	probably null
IGL01704:Pcx	APN	19	4,671,088 (GRCm39)	missense	probably damaging	1.00
IGL02223:Pcx	APN	19	4,652,006 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Pcx	UTSW	19	4,653,157 (GRCm39)	missense	probably damaging	1.00
R0098:Pcx	UTSW	19	4,651,775 (GRCm39)	splice site	probably benign
R0098:Pcx	UTSW	19	4,651,775 (GRCm39)	splice site	probably benign
R0211:Pcx	UTSW	19	4,670,227 (GRCm39)	missense	probably damaging	1.00
R0211:Pcx	UTSW	19	4,670,227 (GRCm39)	missense	probably damaging	1.00
R0398:Pcx	UTSW	19	4,651,638 (GRCm39)	missense	probably benign	0.35
R0414:Pcx	UTSW	19	4,657,670 (GRCm39)	missense	possibly damaging	0.60
R1402:Pcx	UTSW	19	4,652,058 (GRCm39)	missense	possibly damaging	0.59
R1479:Pcx	UTSW	19	4,652,052 (GRCm39)	missense	probably damaging	1.00
R1543:Pcx	UTSW	19	4,652,251 (GRCm39)	missense	probably damaging	1.00
R1559:Pcx	UTSW	19	4,669,114 (GRCm39)	missense	probably damaging	1.00
R1607:Pcx	UTSW	19	4,653,187 (GRCm39)	missense	possibly damaging	0.89
R1833:Pcx	UTSW	19	4,669,132 (GRCm39)	missense	probably damaging	0.98
R1866:Pcx	UTSW	19	4,671,249 (GRCm39)	missense	possibly damaging	0.58
R2131:Pcx	UTSW	19	4,652,579 (GRCm39)	missense	probably benign	0.00
R2172:Pcx	UTSW	19	4,670,909 (GRCm39)	missense	probably benign	0.17
R2224:Pcx	UTSW	19	4,668,026 (GRCm39)	missense	possibly damaging	0.46
R2226:Pcx	UTSW	19	4,668,026 (GRCm39)	missense	possibly damaging	0.46
R2280:Pcx	UTSW	19	4,654,571 (GRCm39)	missense	probably damaging	1.00
R3950:Pcx	UTSW	19	4,667,995 (GRCm39)	missense	probably benign	0.00
R3952:Pcx	UTSW	19	4,667,995 (GRCm39)	missense	probably benign	0.00
R4205:Pcx	UTSW	19	4,669,194 (GRCm39)	missense	possibly damaging	0.95
R4409:Pcx	UTSW	19	4,660,031 (GRCm39)	missense	possibly damaging	0.65
R4670:Pcx	UTSW	19	4,669,916 (GRCm39)	missense	probably damaging	1.00
R4691:Pcx	UTSW	19	4,669,505 (GRCm39)	missense	probably damaging	0.99
R4728:Pcx	UTSW	19	4,653,124 (GRCm39)	missense	probably damaging	1.00
R4808:Pcx	UTSW	19	4,670,956 (GRCm39)	missense	probably benign	0.00
R5200:Pcx	UTSW	19	4,668,532 (GRCm39)	missense	probably damaging	1.00
R5454:Pcx	UTSW	19	4,652,504 (GRCm39)	missense	probably damaging	1.00
R5621:Pcx	UTSW	19	4,669,195 (GRCm39)	missense	possibly damaging	0.59
R5990:Pcx	UTSW	19	4,671,294 (GRCm39)	missense	probably damaging	1.00
R6519:Pcx	UTSW	19	4,652,239 (GRCm39)	missense	possibly damaging	0.64
R6526:Pcx	UTSW	19	4,654,523 (GRCm39)	missense	probably benign	0.44
R7202:Pcx	UTSW	19	4,652,361 (GRCm39)	missense	possibly damaging	0.47
R7423:Pcx	UTSW	19	4,671,206 (GRCm39)	missense	probably benign	0.00
R7473:Pcx	UTSW	19	4,669,589 (GRCm39)	nonsense	probably null
R7654:Pcx	UTSW	19	4,565,697 (GRCm39)	splice site	probably null
R7963:Pcx	UTSW	19	4,652,034 (GRCm39)	missense	probably damaging	1.00
R8272:Pcx	UTSW	19	4,651,758 (GRCm39)	missense	probably damaging	1.00
R8693:Pcx	UTSW	19	4,652,039 (GRCm39)	missense	probably damaging	1.00
R8781:Pcx	UTSW	19	4,670,980 (GRCm39)	missense	probably damaging	1.00
R8829:Pcx	UTSW	19	4,651,968 (GRCm39)	missense	probably damaging	1.00
R9084:Pcx	UTSW	19	4,669,868 (GRCm39)	missense	probably damaging	1.00
R9334:Pcx	UTSW	19	4,670,532 (GRCm39)	missense	probably benign	0.31
R9462:Pcx	UTSW	19	4,651,970 (GRCm39)	missense	probably benign	0.00
R9540:Pcx	UTSW	19	4,651,682 (GRCm39)	missense	probably benign
R9650:Pcx	UTSW	19	4,657,714 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcx	UTSW	19	4,669,101 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGGACCCAGGAGTCTAACTGTTCAC -3'
(R):5'- ATAGCCAGGATGCACCGCATCTAC -3'

Sequencing Primer
(F):5'- CACCCTGTCTGTCTTAGGTGAG -3'
(R):5'- CCATTTTCCTGCAAGGGGC -3'

Posted On

2014-05-09