Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01361:Mpc2'

75737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mpc2

Ensembl Gene

ENSMUSG00000026568

Gene Name

mitochondrial pyruvate carrier 2

Synonyms

2010002I07Rik, Brp44, 0610006C01Rik, 2610205H19Rik, ESTM43

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL01361

Quality Score

Status

Chromosome

Chromosomal Location

165460637-165481214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 165479523 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 98 (A98S)

Ref Sequence

ENSEMBL: ENSMUSP00000027853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027853] [ENSMUST00000193575]

Predicted Effect

probably benign
Transcript: ENSMUST00000027853
AA Change: A98S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027853
Gene: ENSMUSG00000026568
AA Change: A98S

Domain	Start	End	E-Value	Type
Pfam:MPC	27	127	2.5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138999

Predicted Effect

probably benign
Transcript: ENSMUST00000193575

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	T	A	11: 5,596,706		probably benign	Het
C1qtnf3	G	A	15: 10,960,682	G157D	probably damaging	Het
Cacna1b	T	C	2: 24,679,095	E940G	possibly damaging	Het
Camta1	A	G	4: 151,144,692	L561P	probably damaging	Het
Car15	T	C	16: 17,837,854	Y27C	probably damaging	Het
Catsper1	G	T	19: 5,339,479	S474I	probably damaging	Het
Cps1	A	G	1: 67,195,145	D897G	probably benign	Het
Crtc1	A	G	8: 70,387,603	L540P	probably damaging	Het
Fdps	A	G	3: 89,094,442		probably benign	Het
Gprc6a	A	G	10: 51,615,430	I741T	probably damaging	Het
Hdac7	A	C	15: 97,811,442	M47R	possibly damaging	Het
Kalrn	T	C	16: 34,175,722		probably benign	Het
Kat14	C	A	2: 144,406,620		probably null	Het
Kcnu1	T	C	8: 25,886,768	V390A	possibly damaging	Het
Kdm5a	T	A	6: 120,399,016	Y578N	probably damaging	Het
Lrp1b	T	C	2: 41,110,751		probably benign	Het
Nek10	T	C	14: 14,850,957	I334T	probably damaging	Het
Nufip2	T	A	11: 77,692,370	V370E	possibly damaging	Het
Nup160	C	A	2: 90,684,012	Y101*	probably null	Het
Obscn	T	A	11: 59,028,889	Y6174F	probably damaging	Het
Omp	A	T	7: 98,145,282	I46N	probably benign	Het
Pcbp4	A	T	9: 106,463,249		probably null	Het
Pctp	A	G	11: 89,988,726	V103A	probably damaging	Het
Pla2r1	A	G	2: 60,479,470	Y590H	probably damaging	Het
Ppfibp2	T	C	7: 107,744,301		probably null	Het
Reln	G	A	5: 21,919,021	T2829M	probably benign	Het
Sh3yl1	T	A	12: 30,939,564		probably benign	Het
Sipa1l3	A	T	7: 29,348,687	Y210N	probably damaging	Het
Slc33a1	C	A	3: 63,943,412	C497F	probably damaging	Het
Srp9	G	A	1: 182,131,337	C25Y	probably damaging	Het
Traf4	C	A	11: 78,165,400	R14L	possibly damaging	Het
Usf3	C	A	16: 44,212,637		probably null	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het
Vps13a	C	T	19: 16,743,007	A405T	probably damaging	Het
Zan	A	T	5: 137,414,342		probably benign	Het
Zcchc6	A	T	13: 59,785,800	I894K	probably damaging	Het

Other mutations in Mpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6631:Mpc2	UTSW	1	165479512	missense	probably benign	0.44
R7346:Mpc2	UTSW	1	165479511	missense	probably damaging	0.98

Posted On

2013-10-07