Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Pcx'

481986

Institutional Source

Beutler Lab

Gene Symbol

Pcx

Ensembl Gene

ENSMUSG00000024892

Gene Name

pyruvate carboxylase

Synonyms

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5990 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

4510472-4621752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4621266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1172 (D1172G)

Ref Sequence

ENSEMBL: ENSMUSP00000153479 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000068004
AA Change: D1173G

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

SMART Domains

Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: D1173G

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

probably damaging
Transcript: ENSMUST00000113825
AA Change: D1172G

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

SMART Domains

Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: D1172G

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

probably benign
Transcript: ENSMUST00000224707

Predicted Effect

probably damaging
Transcript: ENSMUST00000224726
AA Change: D1172G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225285

Predicted Effect

probably benign
Transcript: ENSMUST00000225375

Predicted Effect

probably benign
Transcript: ENSMUST00000225476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225509

Predicted Effect

probably benign
Transcript: ENSMUST00000225896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226012

Meta Mutation Damage Score

0.9518

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	Het

Other mutations in Pcx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Pcx	APN	19	4620937	missense	probably benign	0.02
IGL01339:Pcx	APN	19	4620235	splice site	probably null
IGL01373:Pcx	APN	19	4620235	splice site	probably null
IGL01704:Pcx	APN	19	4621060	missense	probably damaging	1.00
IGL02223:Pcx	APN	19	4601978	missense	probably damaging	1.00
PIT4151001:Pcx	UTSW	19	4603129	missense	probably damaging	1.00
R0098:Pcx	UTSW	19	4601747	splice site	probably benign
R0098:Pcx	UTSW	19	4601747	splice site	probably benign
R0211:Pcx	UTSW	19	4620199	missense	probably damaging	1.00
R0211:Pcx	UTSW	19	4620199	missense	probably damaging	1.00
R0398:Pcx	UTSW	19	4601610	missense	probably benign	0.35
R0414:Pcx	UTSW	19	4607642	missense	possibly damaging	0.60
R1402:Pcx	UTSW	19	4602030	missense	possibly damaging	0.59
R1402:Pcx	UTSW	19	4602030	missense	possibly damaging	0.59
R1479:Pcx	UTSW	19	4602024	missense	probably damaging	1.00
R1543:Pcx	UTSW	19	4602223	missense	probably damaging	1.00
R1559:Pcx	UTSW	19	4619086	missense	probably damaging	1.00
R1607:Pcx	UTSW	19	4603159	missense	possibly damaging	0.89
R1833:Pcx	UTSW	19	4619104	missense	probably damaging	0.98
R1866:Pcx	UTSW	19	4621221	missense	possibly damaging	0.58
R2131:Pcx	UTSW	19	4602551	missense	probably benign	0.00
R2172:Pcx	UTSW	19	4620881	missense	probably benign	0.17
R2224:Pcx	UTSW	19	4617998	missense	possibly damaging	0.46
R2226:Pcx	UTSW	19	4617998	missense	possibly damaging	0.46
R2280:Pcx	UTSW	19	4604543	missense	probably damaging	1.00
R3950:Pcx	UTSW	19	4617967	missense	probably benign	0.00
R3952:Pcx	UTSW	19	4617967	missense	probably benign	0.00
R4205:Pcx	UTSW	19	4619166	missense	possibly damaging	0.95
R4409:Pcx	UTSW	19	4610003	missense	possibly damaging	0.65
R4670:Pcx	UTSW	19	4619888	missense	probably damaging	1.00
R4691:Pcx	UTSW	19	4619477	missense	probably damaging	0.99
R4728:Pcx	UTSW	19	4603096	missense	probably damaging	1.00
R4808:Pcx	UTSW	19	4620928	missense	probably benign	0.00
R5200:Pcx	UTSW	19	4618504	missense	probably damaging	1.00
R5454:Pcx	UTSW	19	4602476	missense	probably damaging	1.00
R5621:Pcx	UTSW	19	4619167	missense	possibly damaging	0.59
R6519:Pcx	UTSW	19	4602211	missense	possibly damaging	0.64
R6526:Pcx	UTSW	19	4604495	missense	probably benign	0.44
R7202:Pcx	UTSW	19	4602333	missense	possibly damaging	0.47
R7423:Pcx	UTSW	19	4621178	missense	probably benign	0.00
R7473:Pcx	UTSW	19	4619561	nonsense	probably null
R7654:Pcx	UTSW	19	4515669	splice site	probably null
R7963:Pcx	UTSW	19	4602006	missense	probably damaging	1.00
R8272:Pcx	UTSW	19	4601730	missense	probably damaging	1.00
R8693:Pcx	UTSW	19	4602011	missense	probably damaging	1.00
R8781:Pcx	UTSW	19	4620952	missense	probably damaging	1.00
R8829:Pcx	UTSW	19	4601940	missense	probably damaging	1.00
R9084:Pcx	UTSW	19	4619840	missense	probably damaging	1.00
R9334:Pcx	UTSW	19	4620504	missense	probably benign	0.31
R9462:Pcx	UTSW	19	4601942	missense	probably benign	0.00
R9540:Pcx	UTSW	19	4601654	missense	probably benign
R9650:Pcx	UTSW	19	4607686	missense	probably damaging	1.00
Z1176:Pcx	UTSW	19	4619073	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTCCATCCCAAGGCTTTGAAGG -3'
(R):5'- AGGCCATTGCAGGTAGTGTG -3'

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

Posted On

2017-06-26