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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55540266-55551242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55542624 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000226664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226770

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

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
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	Het

Other mutations in Pck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pck2	APN	14	55542641	missense	probably benign	0.30
IGL00430:Pck2	APN	14	55543944	missense	probably benign	0.07
IGL00814:Pck2	APN	14	55548299	unclassified	probably benign
IGL01012:Pck2	APN	14	55544069	splice site	probably benign
IGL02095:Pck2	APN	14	55542510	missense	probably benign	0.02
IGL02227:Pck2	APN	14	55543866	missense	probably benign
IGL02435:Pck2	APN	14	55544390	splice site	probably benign
IGL03124:Pck2	APN	14	55545333	missense	probably damaging	1.00
R0271:Pck2	UTSW	14	55544584	critical splice donor site	probably null
R1014:Pck2	UTSW	14	55542410	missense	probably benign	0.00
R1116:Pck2	UTSW	14	55545366	missense	probably benign	0.00
R1640:Pck2	UTSW	14	55548584	missense	possibly damaging	0.51
R1793:Pck2	UTSW	14	55543965	missense	possibly damaging	0.81
R1965:Pck2	UTSW	14	55542507	missense	probably benign	0.07
R1983:Pck2	UTSW	14	55544068	splice site	probably null
R3196:Pck2	UTSW	14	55543992	missense	probably damaging	1.00
R4751:Pck2	UTSW	14	55542561	missense	probably damaging	1.00
R5385:Pck2	UTSW	14	55545231	missense	probably damaging	1.00
R5960:Pck2	UTSW	14	55548547	missense	possibly damaging	0.48
R6134:Pck2	UTSW	14	55543962	missense	probably damaging	1.00
R7030:Pck2	UTSW	14	55547766	missense	probably damaging	1.00
R7199:Pck2	UTSW	14	55548712	missense	probably benign	0.43
R7516:Pck2	UTSW	14	55542456	missense	probably benign	0.00
R8066:Pck2	UTSW	14	55544401	missense	probably benign	0.30
R9210:Pck2	UTSW	14	55542450	missense	probably benign	0.00
R9257:Pck2	UTSW	14	55545245	missense	probably damaging	1.00
R9334:Pck2	UTSW	14	55547826	missense	probably damaging	1.00
R9499:Pck2	UTSW	14	55542624	missense	probably damaging	1.00
R9552:Pck2	UTSW	14	55542624	missense	probably damaging	1.00
X0065:Pck2	UTSW	14	55548063	missense	probably benign	0.01
Z1176:Pck2	UTSW	14	55545269	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