Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Pcx'

208777

Institutional Source

Beutler Lab

Gene Symbol

Pcx

Ensembl Gene

ENSMUSG00000024892

Gene Name

pyruvate carboxylase

Synonyms

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4560500-4671780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4671249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1157 (I1157T)

Ref Sequence

ENSEMBL: ENSMUSP00000153479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025823] [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000177696] [ENSMUST00000224675] [ENSMUST00000224726] [ENSMUST00000224707] [ENSMUST00000225896] [ENSMUST00000225476] [ENSMUST00000225264] [ENSMUST00000225375]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025823

SMART Domains

Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
transmembrane domain	112	134	N/A	INTRINSIC
Pfam:Abi	147	267	1.4e-19	PFAM
transmembrane domain	283	302	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068004
AA Change: I1158T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: I1158T

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: I1157T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: I1157T

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

probably benign
Transcript: ENSMUST00000177696

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF4554	274	719	5.3e-206	PFAM
low complexity region	720	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223788

Predicted Effect

probably benign
Transcript: ENSMUST00000224675

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224726
AA Change: I1157T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000224707

Predicted Effect

probably benign
Transcript: ENSMUST00000225896

Predicted Effect

probably benign
Transcript: ENSMUST00000225476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226012

Predicted Effect

probably benign
Transcript: ENSMUST00000225264

Predicted Effect

probably benign
Transcript: ENSMUST00000225375

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	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
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
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'- CTTCCATCCCAAGGCTTTGAAG -3'
(R):5'- AGGCCATTGCAGGTAGTGTG -3'

Sequencing Primer
(F):5'- CATCCCAAGGCTTTGAAGGATGTG -3'
(R):5'- CCATGGGACAGGACCTCAAG -3'

Posted On

2014-06-30