Mutagenetix > Incidental Mutation

Incidental Mutation 'R7030:Pck2'

546268

Institutional Source

Beutler Lab

Gene Symbol

Pck2

Ensembl Gene

ENSMUSG00000040618

Gene Name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Synonyms

1810010O14Rik, 9130022B02Rik

MMRRC Submission

045131-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R7030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55777721-55787477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55785223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 427 (D427V)

Ref Sequence

ENSEMBL: ENSMUSP00000154736 (fasta)

Gene Model

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

AlphaFold

Q8BH04

Predicted Effect

probably damaging
Transcript: ENSMUST00000048781
AA Change: D462V

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

SMART Domains

Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: D462V

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 damaging
Transcript: ENSMUST00000226352
AA Change: D435V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226519
AA Change: D435V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228240
AA Change: D427V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228921

Meta Mutation Damage Score

0.9564

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	T	4: 144,430,173 (GRCm39)	A272D	possibly damaging	Het
Abr	A	T	11: 76,350,038 (GRCm39)	I347N	probably damaging	Het
Acbd4	T	A	11: 102,994,985 (GRCm39)	L50Q	probably damaging	Het
Acsl5	T	G	19: 55,261,251 (GRCm39)	Y69*	probably null	Het
Agtpbp1	G	A	13: 59,652,108 (GRCm39)	T401I	probably damaging	Het
Ap3m2	C	T	8: 23,289,807 (GRCm39)	E99K	probably damaging	Het
Arhgef28	A	T	13: 98,124,769 (GRCm39)	S504R	possibly damaging	Het
Arsj	T	A	3: 126,232,752 (GRCm39)	D499E	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Camk2b	T	C	11: 5,939,575 (GRCm39)	D232G	probably damaging	Het
Casc3	C	T	11: 98,713,359 (GRCm39)	P258S	possibly damaging	Het
Catspere2	T	A	1: 177,845,280 (GRCm39)	I100N	probably damaging	Het
Ccdc80	T	A	16: 44,943,252 (GRCm39)	N787K	possibly damaging	Het
Celsr1	C	A	15: 85,789,679 (GRCm39)	C2653F	probably damaging	Het
Cep170	T	C	1: 176,584,051 (GRCm39)	E11G	probably damaging	Het
Chia1	A	C	3: 106,022,641 (GRCm39)	N12H	probably damaging	Het
Chrna4	T	C	2: 180,671,334 (GRCm39)	T141A	probably damaging	Het
Col25a1	T	C	3: 130,272,671 (GRCm39)		probably null	Het
Dcstamp	A	T	15: 39,622,929 (GRCm39)	I417F	probably damaging	Het
Dnah5	A	G	15: 28,238,738 (GRCm39)	I427V	probably benign	Het
Dnah5	A	G	15: 28,333,208 (GRCm39)	E2203G	probably benign	Het
Dnmt3c	A	T	2: 153,559,345 (GRCm39)	S409C	probably damaging	Het
Dock6	A	T	9: 21,724,375 (GRCm39)	M1541K	probably damaging	Het
Dzip1l	C	T	9: 99,547,888 (GRCm39)	T714I	probably benign	Het
Exoc6b	T	C	6: 84,825,807 (GRCm39)	R535G	probably damaging	Het
Fam83h	A	G	15: 75,876,588 (GRCm39)	S250P	probably benign	Het
Fat4	C	T	3: 39,036,107 (GRCm39)	T3253I	probably damaging	Het
Fer1l6	T	A	15: 58,501,227 (GRCm39)	F1302I	probably damaging	Het
Fmnl1	T	G	11: 103,085,600 (GRCm39)		probably benign	Het
Gckr	C	A	5: 31,459,554 (GRCm39)	F201L	possibly damaging	Het
Gm10036	A	G	18: 15,966,292 (GRCm39)	T148A	probably benign	Het
Gm5142	G	A	14: 59,415,909 (GRCm39)	S83F	probably benign	Het
Gpr37	A	T	6: 25,689,004 (GRCm39)	V31D	possibly damaging	Het
Gramd2b	A	T	18: 56,618,321 (GRCm39)	Y207F	probably damaging	Het
Hr	T	C	14: 70,801,124 (GRCm39)		probably null	Het
Igf2r	A	G	17: 12,952,753 (GRCm39)	L231P	probably damaging	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Insyn2b	T	A	11: 34,352,030 (GRCm39)	V24E	probably damaging	Het
Kcnu1	T	C	8: 26,408,491 (GRCm39)	S101P	probably benign	Het
Klhl23	T	G	2: 69,664,310 (GRCm39)	V553G	probably damaging	Het
Lrp1	T	C	10: 127,388,745 (GRCm39)	I3235V	probably damaging	Het
Mb	A	T	15: 76,900,256 (GRCm39)	I57N	probably damaging	Het
Micu1	T	C	10: 59,624,843 (GRCm39)	I295T	possibly damaging	Het
Mink1	G	A	11: 70,498,601 (GRCm39)	V589I	possibly damaging	Het
Mndal	T	C	1: 173,703,160 (GRCm39)	K82E	probably damaging	Het
Mroh1	A	C	15: 76,321,517 (GRCm39)	K1066T	probably benign	Het
Muc5b	T	A	7: 141,396,192 (GRCm39)	N149K	unknown	Het
Myo7b	G	T	18: 32,104,626 (GRCm39)	L1404I	probably damaging	Het
Nlrc4	A	G	17: 74,753,001 (GRCm39)	S461P	probably damaging	Het
Nudt12	A	T	17: 59,310,348 (GRCm39)	D418E	probably benign	Het
Or2g7	T	A	17: 38,378,948 (GRCm39)	D295E	probably benign	Het
Or5g27	G	T	2: 85,409,746 (GRCm39)	R54S	possibly damaging	Het
Pcdha1	A	G	18: 37,292,326 (GRCm39)	H817R	probably damaging	Het
Pcdha4	A	G	18: 37,087,080 (GRCm39)	Y421C	probably damaging	Het
Pcf11	T	C	7: 92,306,886 (GRCm39)	D1094G	probably benign	Het
Pclo	A	G	5: 14,726,421 (GRCm39)	T1760A	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,188 (GRCm39)	Y83N	probably damaging	Het
Pgs1	T	C	11: 117,893,312 (GRCm39)	I213T	probably damaging	Het
Plin4	T	A	17: 56,410,969 (GRCm39)	T1021S	probably damaging	Het
Plxnb1	T	A	9: 108,941,375 (GRCm39)	I1677N	probably damaging	Het
Pm20d2	T	C	4: 33,174,752 (GRCm39)	E378G	possibly damaging	Het
Prkcq	T	G	2: 11,231,661 (GRCm39)		probably null	Het
Psmd2	C	T	16: 20,480,883 (GRCm39)	P780L	probably damaging	Het
Pvr	A	G	7: 19,639,105 (GRCm39)	S392P	possibly damaging	Het
Rad51ap2	G	C	12: 11,507,432 (GRCm39)	L451F	possibly damaging	Het
Rbm20	A	G	19: 53,823,197 (GRCm39)	E598G	probably damaging	Het
Rho	A	T	6: 115,912,504 (GRCm39)	N123Y	possibly damaging	Het
Rictor	T	C	15: 6,737,934 (GRCm39)		probably null	Het
Rilpl2	T	G	5: 124,606,656 (GRCm39)	K186T	probably damaging	Het
Rps6ka4	A	C	19: 6,816,992 (GRCm39)	L61R	probably damaging	Het
Sds	C	A	5: 120,618,890 (GRCm39)	Q118K	probably benign	Het
Septin1	C	T	7: 126,816,157 (GRCm39)	R91K	probably benign	Het
Sf3a3	A	G	4: 124,616,673 (GRCm39)	Y185C	probably damaging	Het
Shtn1	T	C	19: 58,998,266 (GRCm39)	M376V	possibly damaging	Het
Slc6a9	A	G	4: 117,714,633 (GRCm39)	T189A	possibly damaging	Het
Slc7a6	T	G	8: 106,922,606 (GRCm39)	V464G	possibly damaging	Het
Smg8	T	A	11: 86,975,919 (GRCm39)	D554V	probably damaging	Het
Sox8	A	G	17: 25,789,082 (GRCm39)		probably null	Het
Spata31e4	G	T	13: 50,857,019 (GRCm39)	V886L	possibly damaging	Het
Spats2l	T	A	1: 57,918,689 (GRCm39)	V41D	probably damaging	Het
Sult2a3	A	T	7: 13,801,493 (GRCm39)	F282Y	probably damaging	Het
Svs3a	T	G	2: 164,132,091 (GRCm39)	Y220D	probably damaging	Het
Teddm1a	T	A	1: 153,768,369 (GRCm39)	Y278N	probably damaging	Het
Tlk1	T	C	2: 70,552,272 (GRCm39)	Y526C	probably damaging	Het
Tmc3	T	A	7: 83,266,025 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,596,583 (GRCm39)	E20110V	probably damaging	Het
Tulp4	A	G	17: 6,264,941 (GRCm39)	D235G	probably damaging	Het
Usp50	T	C	2: 126,622,395 (GRCm39)	Y55C	possibly damaging	Het
Vmn1r224	T	C	17: 20,639,789 (GRCm39)	L122P	probably benign	Het
Vmn2r62	A	G	7: 42,438,473 (GRCm39)	L121P	possibly damaging	Het
Whrn	G	T	4: 63,413,368 (GRCm39)		probably benign	Het
Zer1	G	T	2: 30,001,033 (GRCm39)	H129Q	probably benign	Het
Zfand4	G	A	6: 116,282,618 (GRCm39)	A64T	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
R6276:Pck2	UTSW	14	55,780,081 (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'- AATTAGCTGATGAAACCATGCAAA -3'
(R):5'- AGCTGGAGGTCCCTGTGAG -3'

Sequencing Primer
(F):5'- CTCAGCGAGTAAGATCCTGAGTTC -3'
(R):5'- AGCGGTCCTGTGAGTTTTAAGTACAG -3'

Posted On

2019-05-13