Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Pck2'

507671

Institutional Source

Beutler Lab

Gene Symbol

Pck2

Ensembl Gene

ENSMUSG00000040618

Gene Name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Synonyms

1810010O14Rik, 9130022B02Rik

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55777721-55787477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55780081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 110 (I110N)

Ref Sequence

ENSEMBL: ENSMUSP00000038555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048781] [ENSMUST00000226352] [ENSMUST00000226519] [ENSMUST00000228240]

AlphaFold

Q8BH04

Predicted Effect

probably damaging
Transcript: ENSMUST00000048781
AA Change: I110N

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

SMART Domains

Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: I110N

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:PEPCK	73	664	1.9e-276	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226295

Predicted Effect

probably damaging
Transcript: ENSMUST00000226352
AA Change: I83N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226514

Predicted Effect

probably damaging
Transcript: ENSMUST00000226519
AA Change: I83N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228240
AA Change: I75N

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226664

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,874 (GRCm39)	D364E	probably benign	Het
Adra2c	C	T	5: 35,437,423 (GRCm39)	T65I	probably damaging	Het
Agap2	T	A	10: 126,925,229 (GRCm39)		probably null	Het
Ager	T	C	17: 34,817,728 (GRCm39)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,621,736 (GRCm39)	I288M	probably benign	Het
Arhgap45	A	T	10: 79,862,068 (GRCm39)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm39)	Y426C	probably damaging	Het
Azi2	C	T	9: 117,878,406 (GRCm39)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,778,567 (GRCm39)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,506,338 (GRCm39)	I701S	probably damaging	Het
Ccnq	T	C	11: 78,642,056 (GRCm39)	K145E	probably damaging	Het
Cd55b	T	A	1: 130,345,903 (GRCm39)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,718,647 (GRCm39)	E199G	probably benign	Het
Cntnap4	A	T	8: 113,478,921 (GRCm39)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,761,858 (GRCm39)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,214,636 (GRCm39)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,579,458 (GRCm39)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,378,022 (GRCm39)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,650,446 (GRCm39)	Y145*	probably null	Het
Fsip2	A	T	2: 82,810,785 (GRCm39)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,989,612 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,941,802 (GRCm39)	Y627*	probably null	Het
Gm6811	T	A	17: 21,314,245 (GRCm39)		noncoding transcript	Het
Gm6811	T	G	17: 21,314,952 (GRCm39)		noncoding transcript	Het
H2-M1	G	A	17: 36,982,602 (GRCm39)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,720,347 (GRCm39)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,614,432 (GRCm39)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,707,826 (GRCm39)	Y89*	probably null	Het
Itga1	T	C	13: 115,117,388 (GRCm39)	E871G	probably benign	Het
Kat6a	T	C	8: 23,429,421 (GRCm39)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,500,979 (GRCm39)	A756E	probably benign	Het
Krt12	A	T	11: 99,312,728 (GRCm39)	C105*	probably null	Het
Lama1	G	A	17: 68,091,083 (GRCm39)		probably null	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lrrk1	A	G	7: 65,956,587 (GRCm39)		probably null	Het
Lypd9	T	A	11: 58,337,192 (GRCm39)	I94L	possibly damaging	Het
Map2	T	C	1: 66,438,578 (GRCm39)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,757,549 (GRCm39)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,959,508 (GRCm39)	S1430T	probably benign	Het
Notch3	G	A	17: 32,373,723 (GRCm39)	T495I	probably benign	Het
Or1e31	A	T	11: 73,690,229 (GRCm39)	M118K	probably damaging	Het
Palld	C	T	8: 61,966,457 (GRCm39)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,966,666 (GRCm39)	I620N	probably damaging	Het
Pcdha6	A	G	18: 37,102,820 (GRCm39)		probably null	Het
Pcdhb11	G	A	18: 37,554,813 (GRCm39)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,840,697 (GRCm39)	E139G	probably benign	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phactr3	G	A	2: 177,920,812 (GRCm39)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,153,684 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,206,076 (GRCm39)	H278R	probably benign	Het
Rspry1	T	A	8: 95,349,886 (GRCm39)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Smn1	A	G	13: 100,264,503 (GRCm39)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,046,078 (GRCm39)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tbck	A	G	3: 132,448,766 (GRCm39)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,606,687 (GRCm39)	F422L	probably benign	Het
Tex15	T	A	8: 34,067,217 (GRCm39)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,225,441 (GRCm39)	E846G	probably benign	Het
Ttc41	T	C	10: 86,580,313 (GRCm39)	I753T	probably benign	Het
Vdac1	C	T	11: 52,267,309 (GRCm39)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 20,994,104 (GRCm39)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,368,465 (GRCm39)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,493,730 (GRCm39)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,570,318 (GRCm39)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,671,732 (GRCm39)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 32,831,482 (GRCm39)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,345,604 (GRCm39)		probably null	Het
Zscan2	A	G	7: 80,525,557 (GRCm39)	N426S	probably benign	Het

Other mutations in Pck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pck2	APN	14	55,780,098 (GRCm39)	missense	probably benign	0.30
IGL00430:Pck2	APN	14	55,781,401 (GRCm39)	missense	probably benign	0.07
IGL00814:Pck2	APN	14	55,785,756 (GRCm39)	unclassified	probably benign
IGL01012:Pck2	APN	14	55,781,526 (GRCm39)	splice site	probably benign
IGL02095:Pck2	APN	14	55,779,967 (GRCm39)	missense	probably benign	0.02
IGL02227:Pck2	APN	14	55,781,323 (GRCm39)	missense	probably benign
IGL02435:Pck2	APN	14	55,781,847 (GRCm39)	splice site	probably benign
IGL03124:Pck2	APN	14	55,782,790 (GRCm39)	missense	probably damaging	1.00
R0271:Pck2	UTSW	14	55,782,041 (GRCm39)	critical splice donor site	probably null
R1014:Pck2	UTSW	14	55,779,867 (GRCm39)	missense	probably benign	0.00
R1116:Pck2	UTSW	14	55,782,823 (GRCm39)	missense	probably benign	0.00
R1640:Pck2	UTSW	14	55,786,041 (GRCm39)	missense	possibly damaging	0.51
R1793:Pck2	UTSW	14	55,781,422 (GRCm39)	missense	possibly damaging	0.81
R1965:Pck2	UTSW	14	55,779,964 (GRCm39)	missense	probably benign	0.07
R1983:Pck2	UTSW	14	55,781,525 (GRCm39)	splice site	probably null
R3196:Pck2	UTSW	14	55,781,449 (GRCm39)	missense	probably damaging	1.00
R4751:Pck2	UTSW	14	55,780,018 (GRCm39)	missense	probably damaging	1.00
R5385:Pck2	UTSW	14	55,782,688 (GRCm39)	missense	probably damaging	1.00
R5960:Pck2	UTSW	14	55,786,004 (GRCm39)	missense	possibly damaging	0.48
R6134:Pck2	UTSW	14	55,781,419 (GRCm39)	missense	probably damaging	1.00
R7030:Pck2	UTSW	14	55,785,223 (GRCm39)	missense	probably damaging	1.00
R7199:Pck2	UTSW	14	55,786,169 (GRCm39)	missense	probably benign	0.43
R7516:Pck2	UTSW	14	55,779,913 (GRCm39)	missense	probably benign	0.00
R8066:Pck2	UTSW	14	55,781,858 (GRCm39)	missense	probably benign	0.30
R9210:Pck2	UTSW	14	55,779,907 (GRCm39)	missense	probably benign	0.00
R9257:Pck2	UTSW	14	55,782,702 (GRCm39)	missense	probably damaging	1.00
R9334:Pck2	UTSW	14	55,785,283 (GRCm39)	missense	probably damaging	1.00
R9499:Pck2	UTSW	14	55,780,081 (GRCm39)	missense	probably damaging	1.00
R9552:Pck2	UTSW	14	55,780,081 (GRCm39)	missense	probably damaging	1.00
X0065:Pck2	UTSW	14	55,785,520 (GRCm39)	missense	probably benign	0.01
Z1176:Pck2	UTSW	14	55,782,726 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAACCCTGCATGTGCTCAG -3'
(R):5'- CTCCAAAGTAAGAGCTCCAATTTG -3'

Sequencing Primer
(F):5'- CTCAGTGGAGATATGAGTCAGCTGC -3'
(R):5'- AAAAACGTTCACTTTCCCGTTC -3'

Posted On

2018-03-15