Mutagenetix > Incidental Mutations

Incidental Mutation 'R7516:Pck2'

582483

Institutional Source

Beutler Lab

Gene Symbol

Pck2

Ensembl Gene

ENSMUSG00000040618

Gene Name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Synonyms

1810010O14Rik, 9130022B02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R7516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55540266-55551242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55542456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 54 (I54N)

Ref Sequence

ENSEMBL: ENSMUSP00000038555 (fasta)

Gene Model

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

AlphaFold

Q8BH04

Predicted Effect

probably benign
Transcript: ENSMUST00000048781
AA Change: I54N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: I54N

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

probably benign
Transcript: ENSMUST00000226352
AA Change: I27N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000226519
AA Change: I27N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000228240
AA Change: I19N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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
Adam28	T	A	14: 68,630,676	I407F	probably damaging	Het
Agbl1	A	G	7: 76,425,921	Y437C	probably damaging	Het
Alkbh5	T	C	11: 60,539,153	V244A	probably damaging	Het
Arap1	T	C	7: 101,409,331	F1390L	probably benign	Het
Asph	T	C	4: 9,630,940	D136G	possibly damaging	Het
Atp8a2	A	T	14: 59,857,067	Y841N	probably damaging	Het
Cald1	A	T	6: 34,709,557		probably benign	Het
Capn11	A	G	17: 45,638,840	I400T	possibly damaging	Het
Cdh18	T	A	15: 23,259,598		probably null	Het
Ces2h	T	A	8: 105,016,826	L204Q	probably damaging	Het
Chrna3	G	A	9: 55,015,369	A385V	probably benign	Het
Clca4a	A	T	3: 144,966,248	L311Q	probably damaging	Het
Clip1	A	G	5: 123,583,385	V1149A	probably benign	Het
Clip3	T	A	7: 30,298,843	V238D	possibly damaging	Het
Col12a1	A	G	9: 79,612,910		probably null	Het
Coro2a	A	G	4: 46,562,992	V54A	probably benign	Het
Crem	T	C	18: 3,299,141		probably null	Het
Dennd5b	T	C	6: 149,068,380	I192V	probably benign	Het
Dst	A	G	1: 34,170,479	N1209S	probably benign	Het
Ero1l	T	A	14: 45,288,023	M385L	probably benign	Het
Fam13a	A	T	6: 58,955,263	V375D	probably damaging	Het
Fgfbp3	T	A	19: 36,918,924	Y98F	possibly damaging	Het
Frem3	T	C	8: 80,612,083	V335A	probably damaging	Het
Gm19410	T	A	8: 35,796,279	D951E	probably benign	Het
Gpatch1	T	C	7: 35,308,200	D145G	probably benign	Het
H60c	G	T	10: 3,259,746	C180*	probably null	Het
Hmcn1	T	C	1: 150,622,967	T4054A	probably benign	Het
Hrg	A	G	16: 22,961,298	Y442C	unknown	Het
Hspg2	C	T	4: 137,542,620	R2327C	possibly damaging	Het
Klhl31	G	T	9: 77,651,147	A382S	probably damaging	Het
Knl1	T	C	2: 119,070,698	V960A	probably damaging	Het
Lztr1	C	T	16: 17,509,661	A76V	possibly damaging	Het
Me3	G	T	7: 89,847,975	E395*	probably null	Het
Morc2b	G	A	17: 33,137,461	H446Y	probably benign	Het
Mroh7	A	T	4: 106,691,119	M1054K	probably benign	Het
Ms4a6b	T	C	19: 11,529,543	V232A	probably benign	Het
Nmt2	C	A	2: 3,312,730	D224E	probably damaging	Het
Nox4	C	A	7: 87,321,697	R261S	probably benign	Het
Obscn	T	A	11: 59,124,590	K1019*	probably null	Het
Olfr1058	C	T	2: 86,385,984	V145I	probably benign	Het
Olfr1234	T	A	2: 89,363,375	N18I	probably benign	Het
Olfr1288	T	A	2: 111,478,937	V51D	probably benign	Het
Olfr492	G	A	7: 108,323,016	S220F	probably damaging	Het
Pcdha11	A	T	18: 37,011,618	N254I	probably damaging	Het
Pkd1l3	T	A	8: 109,635,229	W978R	probably damaging	Het
Plxna4	T	C	6: 32,237,768	T593A	probably benign	Het
Podn	G	A	4: 108,022,124	R266W	probably damaging	Het
Ptpn22	A	G	3: 103,885,538	D335G	probably benign	Het
Pxn	A	G	5: 115,506,863	D3G	unknown	Het
Rapgefl1	T	G	11: 98,846,134	V320G	probably benign	Het
Rel	A	G	11: 23,742,785	I416T	probably benign	Het
Sema5b	A	G	16: 35,651,170	N378D	probably benign	Het
Sh3bp4	C	A	1: 89,145,646	L739M	probably damaging	Het
Skint2	A	T	4: 112,625,971	D191V	probably damaging	Het
Slc3a1	T	C	17: 85,063,762	Y581H	probably damaging	Het
Smcr8	G	T	11: 60,779,988	C654F	probably benign	Het
Spta1	A	C	1: 174,197,783	Q738P	probably damaging	Het
Sptlc3	C	A	2: 139,589,518	A320D	probably benign	Het
Thnsl2	T	A	6: 71,132,006	K274*	probably null	Het
Tmed2	T	A	5: 124,546,992	I68K	possibly damaging	Het
Tmtc4	G	A	14: 122,943,323	A326V	possibly damaging	Het
Tnks2	T	A	19: 36,871,664	S179T	possibly damaging	Het
Trim34b	G	T	7: 104,329,711	C55F	probably damaging	Het
Trpm4	T	A	7: 45,305,020	E1129V	probably damaging	Het
Tvp23b	T	C	11: 62,892,041	S188P	possibly damaging	Het
Usp1	A	G	4: 98,934,119	T557A	probably damaging	Het
Vmn2r66	C	T	7: 85,011,968	C18Y	possibly damaging	Het
Vmn2r85	T	A	10: 130,418,983	T611S	probably damaging	Het
Vps13c	T	C	9: 67,955,007	S2969P	possibly damaging	Het
Wdr74	T	A	19: 8,736,190	C62*	probably null	Het
Wfikkn1	A	T	17: 25,878,046	C435S	probably damaging	Het
Zbtb45	A	T	7: 13,006,342	F449I	probably damaging	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
R6276:Pck2	UTSW	14	55542624	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
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
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'- ACCTGGTCTTATGGTGCCTG -3'
(R):5'- GGTTGCTAGTTTCAAGGCTTACC -3'

Sequencing Primer
(F):5'- TTATGGTGCCTGCAACCAGAC -3'
(R):5'- CAAGGCTTACCAGTTCTTATACTTGG -3'

Posted On

2019-10-17