Mutagenetix > Incidental Mutation

Incidental Mutation 'R7202:Pcx'

560409

Institutional Source

Beutler Lab

Gene Symbol

Pcx

Ensembl Gene

ENSMUSG00000024892

Gene Name

pyruvate carboxylase

Synonyms

MMRRC Submission

045280-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4560500-4671780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4652361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 150 (M150L)

Ref Sequence

ENSEMBL: ENSMUSP00000063825 (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: M150L

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: M150L

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: M149L

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: M149L

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: M149L

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000225189

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,917,236 (GRCm39)	I1467T	probably damaging	Het
Abtb3	A	G	10: 85,223,629 (GRCm39)	E146G	unknown	Het
Adgrf3	T	A	5: 30,409,378 (GRCm39)	K38*	probably null	Het
Ahdc1	T	A	4: 132,789,198 (GRCm39)	C146*	probably null	Het
Ahnak	A	T	19: 8,995,163 (GRCm39)	K5482N	probably damaging	Het
Arhgap23	C	T	11: 97,342,819 (GRCm39)	A367V	possibly damaging	Het
Arvcf	T	C	16: 18,223,948 (GRCm39)	S960P	probably damaging	Het
Asb14	C	A	14: 26,622,394 (GRCm39)	P74Q	probably benign	Het
Atad5	T	C	11: 79,980,601 (GRCm39)	V2A	probably damaging	Het
Baz2a	A	G	10: 127,954,428 (GRCm39)	I691M	possibly damaging	Het
Brca2	A	G	5: 150,455,819 (GRCm39)	T187A	probably benign	Het
Calr4	T	A	4: 109,101,254 (GRCm39)	N152K	possibly damaging	Het
Ccnb2	C	T	9: 70,318,128 (GRCm39)	A215T	probably damaging	Het
Cdh16	C	T	8: 105,340,780 (GRCm39)	D140N	unknown	Het
Ces1g	T	C	8: 94,029,595 (GRCm39)	T546A	probably benign	Het
Cfap74	G	T	4: 155,510,654 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,155,959 (GRCm39)	Y88C	probably benign	Het
Col5a1	G	T	2: 27,842,390 (GRCm39)	D422Y	unknown	Het
Cyp2c66	A	T	19: 39,130,348 (GRCm39)	Y61F	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,158,688 (GRCm39)		probably null	Het
Dop1a	T	G	9: 86,386,220 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,954,834 (GRCm39)	F106L	probably damaging	Het
Gfy	T	C	7: 44,827,596 (GRCm39)	T167A	probably benign	Het
Gm6525	A	T	3: 84,082,341 (GRCm39)	R87S	probably benign	Het
Gramd1c	C	A	16: 43,879,584 (GRCm39)	A19S	possibly damaging	Het
Herc2	T	C	7: 55,781,034 (GRCm39)	V1233A	probably damaging	Het
Hibch	G	A	1: 52,892,874 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,027 (GRCm39)	S9C	probably benign	Het
Il17ra	A	G	6: 120,452,572 (GRCm39)	I252V	probably benign	Het
Ino80	A	T	2: 119,204,918 (GRCm39)	M1536K	probably benign	Het
Ipo11	A	T	13: 107,012,078 (GRCm39)	L568Q	probably damaging	Het
Kcnu1	T	G	8: 26,409,609 (GRCm39)		probably null	Het
Kdm5b	T	G	1: 134,552,497 (GRCm39)	S1158A	probably benign	Het
Kmt2a	T	C	9: 44,759,012 (GRCm39)	T946A	probably benign	Het
Kmt2e	A	T	5: 23,697,292 (GRCm39)		probably benign	Het
Krba1	G	A	6: 48,389,261 (GRCm39)	V594M	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lig1	C	T	7: 13,025,175 (GRCm39)	P227S	probably benign	Het
Lims2	T	A	18: 32,090,017 (GRCm39)	D255E	probably benign	Het
Marchf3	C	T	18: 56,909,161 (GRCm39)	C208Y	probably benign	Het
Mei1	A	G	15: 81,976,843 (GRCm39)	E142G		Het
Melk	G	T	4: 44,351,106 (GRCm39)	R549L	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myorg	T	C	4: 41,498,268 (GRCm39)	Y454C	probably damaging	Het
Nae1	T	C	8: 105,250,215 (GRCm39)	Y226C	possibly damaging	Het
Nap1l1	T	C	10: 111,326,964 (GRCm39)	F175S	probably damaging	Het
Ndn	T	C	7: 61,998,709 (GRCm39)	L185P	probably damaging	Het
Ndst3	T	A	3: 123,465,388 (GRCm39)	I195F	possibly damaging	Het
Ndufaf1	A	T	2: 119,488,907 (GRCm39)	S206T	probably benign	Het
Nek10	C	A	14: 14,836,171 (GRCm38)	H131N	probably benign	Het
Obsl1	T	A	1: 75,466,360 (GRCm39)	D1456V	possibly damaging	Het
Or10a2	A	G	7: 106,673,448 (GRCm39)	N138D	probably benign	Het
Or10ak7	C	T	4: 118,791,215 (GRCm39)	V277I	probably benign	Het
Or52s6	T	A	7: 103,092,292 (GRCm39)	T13S	probably benign	Het
Otog	C	T	7: 45,937,474 (GRCm39)	L1728F	probably damaging	Het
Pole	A	G	5: 110,444,973 (GRCm39)	D443G	possibly damaging	Het
Prr14	G	T	7: 127,075,648 (GRCm39)	R552L	probably damaging	Het
Rasgrf1	T	G	9: 89,899,125 (GRCm39)	S1156A	possibly damaging	Het
Rfc4	T	A	16: 22,946,359 (GRCm39)		probably benign	Het
Rfx5	G	T	3: 94,866,272 (GRCm39)	A524S	unknown	Het
Ryr3	G	A	2: 112,596,664 (GRCm39)	P2497S	probably damaging	Het
Scg3	T	C	9: 75,590,992 (GRCm39)	T6A	probably benign	Het
Slc26a9	A	T	1: 131,690,526 (GRCm39)	D510V	possibly damaging	Het
Stpg3	A	G	2: 25,104,586 (GRCm39)	F10L	probably damaging	Het
Tmc5	T	A	7: 118,239,179 (GRCm39)	H357Q	possibly damaging	Het
Tmem40	A	T	6: 115,707,420 (GRCm39)	L253H	probably damaging	Het
Tmie	A	G	9: 110,696,632 (GRCm39)	V83A	probably damaging	Het
Uck2	A	T	1: 167,054,084 (GRCm39)	I218N	probably damaging	Het
Vtn	A	G	11: 78,391,626 (GRCm39)	D310G	possibly damaging	Het
Wdr49	A	T	3: 75,240,580 (GRCm39)	S430T	probably benign	Het
Wtip	A	G	7: 33,832,087 (GRCm39)	V133A	probably benign	Het
Zbtb9	T	A	17: 27,193,666 (GRCm39)	V357E	probably damaging	Het
Zfp953	G	A	13: 67,491,706 (GRCm39)	T82M	probably benign	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
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
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'- ACCAGCAGAATCTGTGAACAAG -3'
(R):5'- TTGGAGAACTCATGCGCCTC -3'

Sequencing Primer
(F):5'- TGAGAGTAGATCCCAGCAAGG -3'
(R):5'- CTCGTGCAGGGAGCTGATG -3'

Posted On

2019-06-26