Mutagenetix > Incidental Mutation

Incidental Mutation 'R8090:Mpc1'

629915

Institutional Source

Beutler Lab

Gene Symbol

Mpc1

Ensembl Gene

ENSMUSG00000023861

Gene Name

mitochondrial pyruvate carrier 1

Synonyms

0610006G08Rik, 3830411I18Rik, Brp44l

MMRRC Submission

067523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8502590-8516499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 8515705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 74 (Q74H)

Ref Sequence

ENSEMBL: ENSMUSP00000119443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046754] [ENSMUST00000124023] [ENSMUST00000130559] [ENSMUST00000142594] [ENSMUST00000145402] [ENSMUST00000155364]

AlphaFold

P63030

Predicted Effect

probably benign
Transcript: ENSMUST00000046754
AA Change: Q74H

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045654
Gene: ENSMUSG00000023861
AA Change: Q74H

Domain	Start	End	E-Value	Type
Pfam:MPC	7	108	2.4e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124023
AA Change: Q50H

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118386
Gene: ENSMUSG00000023861
AA Change: Q50H

Domain	Start	End	E-Value	Type
Pfam:MPC	1	85	5.5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130559
AA Change: Q51H

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116307
Gene: ENSMUSG00000023861
AA Change: Q51H

Domain	Start	End	E-Value	Type
Pfam:MPC	1	86	7.1e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142594
AA Change: Q132H

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119901
Gene: ENSMUSG00000023861
AA Change: Q132H

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Pfam:MPC	70	167	1.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145402
AA Change: Q74H

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122214
Gene: ENSMUSG00000023861
AA Change: Q74H

Domain	Start	End	E-Value	Type
Pfam:MPC	7	78	5.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155364
AA Change: Q74H

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119443
Gene: ENSMUSG00000023861
AA Change: Q74H

Domain	Start	End	E-Value	Type
Pfam:MPC	7	108	2.4e-40	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 92.1%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit altered gluconeogenesis and whole body glucose homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	T	C	11: 116,487,017 (GRCm39)	C75R	probably damaging	Het
Ackr2	A	G	9: 121,738,045 (GRCm39)	D140G	possibly damaging	Het
Adgrv1	C	A	13: 81,596,953 (GRCm39)		probably null	Het
Arpp21	A	G	9: 111,945,769 (GRCm39)	L593S	unknown	Het
Atn1	G	A	6: 124,722,304 (GRCm39)	P850S	unknown	Het
Capn13	G	A	17: 73,689,849 (GRCm39)	S54L	probably benign	Het
Cd1d2	C	T	3: 86,893,964 (GRCm39)	P5S	possibly damaging	Het
Cgn	A	G	3: 94,687,263 (GRCm39)	V13A	probably damaging	Het
Clint1	T	C	11: 45,778,267 (GRCm39)	V136A	probably damaging	Het
Cox5a	T	A	9: 57,436,346 (GRCm39)	L66M	probably damaging	Het
Crb2	G	T	2: 37,685,503 (GRCm39)	C1205F	probably damaging	Het
Ddx3y	C	T	Y: 1,264,897 (GRCm39)	S519N	probably benign	Het
Defb50	G	A	8: 22,321,087 (GRCm39)	G26S	probably damaging	Het
Dock8	T	C	19: 25,131,606 (GRCm39)	L1112P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Gm9837	A	G	11: 53,361,065 (GRCm39)	S50P	unknown	Het
Gon4l	A	G	3: 88,799,931 (GRCm39)	I859V	probably damaging	Het
Grin3a	A	T	4: 49,714,224 (GRCm39)	D840E	probably damaging	Het
Ifit2	T	A	19: 34,550,662 (GRCm39)	N67K	possibly damaging	Het
Il17re	G	A	6: 113,439,250 (GRCm39)	W53*	probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Krt25	T	A	11: 99,207,416 (GRCm39)		probably null	Het
Krt26	T	C	11: 99,227,315 (GRCm39)	M171V	probably benign	Het
Lrba	T	C	3: 86,255,796 (GRCm39)	L1046S	probably benign	Het
Lrp2	G	T	2: 69,295,089 (GRCm39)	P3410T	possibly damaging	Het
Madd	T	C	2: 90,985,968 (GRCm39)	K1241R	probably benign	Het
Mcm8	T	G	2: 132,673,569 (GRCm39)	S402A	probably benign	Het
Mroh4	A	G	15: 74,496,550 (GRCm39)	V279A	probably benign	Het
Muc21	G	C	17: 35,932,617 (GRCm39)	T523S	unknown	Het
Ndufs2	A	T	1: 171,064,247 (GRCm39)	H380Q	probably damaging	Het
Nkx2-6	T	C	14: 69,409,465 (GRCm39)	L72P	possibly damaging	Het
Nme6	T	A	9: 109,671,019 (GRCm39)	L73*	probably null	Het
Odf2l	G	T	3: 144,832,796 (GRCm39)	A85S	probably damaging	Het
Or51ac3	A	T	7: 103,214,048 (GRCm39)	I146K	probably benign	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Plpp6	C	T	19: 28,942,271 (GRCm39)	Q291*	probably null	Het
Plxnd1	G	A	6: 115,933,578 (GRCm39)	A1855V	probably damaging	Het
Ptcd1	A	T	5: 145,096,345 (GRCm39)	H249Q	possibly damaging	Het
Rnf149	C	A	1: 39,616,304 (GRCm39)	A18S	unknown	Het
Scara5	C	T	14: 65,979,586 (GRCm39)	R368*	probably null	Het
Sfmbt2	G	A	2: 10,466,190 (GRCm39)	D342N	probably benign	Het
Shank3	T	A	15: 89,389,661 (GRCm39)		probably null	Het
Slc22a27	A	G	19: 7,843,101 (GRCm39)		probably null	Het
Srgap3	G	T	6: 112,757,996 (GRCm39)	Y170*	probably null	Het
Szt2	A	T	4: 118,244,199 (GRCm39)		probably null	Het
Tbccd1	A	G	16: 22,660,805 (GRCm39)	S4P	probably benign	Het
Tcf20	A	G	15: 82,740,207 (GRCm39)	S415P	probably damaging	Het
Tdrd9	T	C	12: 111,982,369 (GRCm39)	S487P	probably damaging	Het
Trim26	A	G	17: 37,167,640 (GRCm39)	Q300R	possibly damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yif1b	A	G	7: 28,943,726 (GRCm39)	N93S	probably benign	Het
Zdhhc22	C	A	12: 87,030,394 (GRCm39)	V185F	probably benign	Het
Zfp638	G	T	6: 83,906,801 (GRCm39)	S322I	probably damaging	Het
Zfp786	T	A	6: 47,796,943 (GRCm39)	H665L	probably damaging	Het
Zfp799	C	T	17: 33,039,949 (GRCm39)	V106I	probably benign	Het

Other mutations in Mpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02687:Mpc1	APN	17	8,515,975 (GRCm39)	missense	probably benign	0.14
R1897:Mpc1	UTSW	17	8,515,710 (GRCm39)	missense	possibly damaging	0.82
R3942:Mpc1	UTSW	17	8,507,420 (GRCm39)	splice site	probably null
R4770:Mpc1	UTSW	17	8,512,377 (GRCm39)	intron	probably benign
R5188:Mpc1	UTSW	17	8,515,215 (GRCm39)	intron	probably benign
R6484:Mpc1	UTSW	17	8,515,788 (GRCm39)	missense	possibly damaging	0.90
R7852:Mpc1	UTSW	17	8,515,740 (GRCm39)	missense	probably damaging	0.99
R8995:Mpc1	UTSW	17	8,502,784 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACAACTCAGCCCTGTTATGG -3'
(R):5'- AGAGGCTCTGCATGGCTTTAG -3'

Sequencing Primer
(F):5'- GCCCTGTTATGGCTGCTAAG -3'
(R):5'- AGGCTCTGCATGGCTTTAGAAGAC -3'

Posted On

2020-06-30