Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Uqcrc2'

484655

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc2

Ensembl Gene

ENSMUSG00000030884

Gene Name

ubiquinol cytochrome c reductase core protein 2

Synonyms

1500004O06Rik

MMRRC Submission

044246-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6089 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120234412-120258746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120253232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 332 (D332V)

Ref Sequence

ENSEMBL: ENSMUSP00000033176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033176] [ENSMUST00000033178]

AlphaFold

Q9DB77

Predicted Effect

probably damaging
Transcript: ENSMUST00000033176
AA Change: D332V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033176
Gene: ENSMUSG00000030884
AA Change: D332V

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	48	194	3.2e-33	PFAM
Pfam:Peptidase_M16_C	199	378	2.2e-26	PFAM
low complexity region	417	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033178

SMART Domains

Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887

Domain	Start	End	E-Value	Type
PDZ	38	111	2.97e-8	SMART
low complexity region	231	243	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137808

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

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 located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,335,132 (GRCm39)	V95A	probably damaging	Het
Ankrd40	A	T	11: 94,224,751 (GRCm39)	K53N	probably damaging	Het
Ash1l	C	T	3: 88,960,450 (GRCm39)	Q2338*	probably null	Het
Astn2	A	G	4: 65,712,810 (GRCm39)	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Btbd8	C	T	5: 107,654,895 (GRCm39)	A386V	probably damaging	Het
Calm4	A	T	13: 3,887,874 (GRCm39)		probably benign	Het
Card10	T	C	15: 78,686,614 (GRCm39)	T68A	probably benign	Het
Cars2	A	G	8: 11,580,301 (GRCm39)	M245T	probably damaging	Het
Cat	C	A	2: 103,303,296 (GRCm39)	L160F	probably null	Het
Cers5	G	T	15: 99,638,883 (GRCm39)	T144K	probably benign	Het
Cyp3a13	T	A	5: 137,908,215 (GRCm39)	L211F	probably benign	Het
Defb4	A	T	8: 19,251,321 (GRCm39)	R63*	probably null	Het
Dnah14	G	T	1: 181,577,719 (GRCm39)	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,847,555 (GRCm39)	T182A	probably benign	Het
Dzip1l	C	A	9: 99,524,737 (GRCm39)	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,873,918 (GRCm39)	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,163,145 (GRCm39)	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448 (GRCm39)	S154P	probably damaging	Het
Gm15440	A	T	13: 51,845,437 (GRCm39)	H107Q	unknown	Het
Grm2	G	A	9: 106,531,090 (GRCm39)	P133L	probably damaging	Het
Gsdme	A	G	6: 50,228,285 (GRCm39)	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,591,198 (GRCm39)	T23A	probably benign	Het
Helz	A	T	11: 107,485,963 (GRCm39)		probably null	Het
Herc1	A	C	9: 66,352,814 (GRCm39)	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ifngr1	T	C	10: 19,482,048 (GRCm39)	S213P	probably benign	Het
Itgb7	T	C	15: 102,125,721 (GRCm39)	D636G	probably benign	Het
Mre11a	G	A	9: 14,730,760 (GRCm39)	D491N	probably benign	Het
Muc16	A	G	9: 18,554,548 (GRCm39)	L3915P	unknown	Het
Myh1	T	A	11: 67,092,993 (GRCm39)		probably null	Het
Myh1	T	G	11: 67,111,613 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,464,409 (GRCm39)	T608M	probably damaging	Het
Myof	T	C	19: 37,955,508 (GRCm39)	K23E	probably benign	Het
Nacad	A	G	11: 6,551,331 (GRCm39)	V620A	probably benign	Het
Pbrm1	T	C	14: 30,809,542 (GRCm39)	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 37,131,551 (GRCm39)	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Pigg	A	T	5: 108,489,788 (GRCm39)	M798L	probably benign	Het
Poc5	G	T	13: 96,533,179 (GRCm39)	M102I	probably damaging	Het
Ppp2r3d	T	A	9: 101,088,835 (GRCm39)	Q496L	probably benign	Het
Ptprf	A	G	4: 118,068,281 (GRCm39)	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,499,941 (GRCm39)	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,307,385 (GRCm39)	K682E	probably benign	Het
Rtp3	T	C	9: 110,816,041 (GRCm39)	D170G	probably benign	Het
Sall4	T	C	2: 168,597,406 (GRCm39)	D478G	possibly damaging	Het
Scai	A	T	2: 38,973,566 (GRCm39)	Y58*	probably null	Het
Simc1	G	A	13: 54,676,303 (GRCm39)	V1007M	probably benign	Het
Tcf20	G	T	15: 82,737,409 (GRCm39)	D1347E	probably benign	Het
Tdo2	T	C	3: 81,870,035 (GRCm39)	Y279C	probably damaging	Het
Trdn	C	T	10: 33,340,571 (GRCm39)	P602S	probably benign	Het
Txndc5	A	T	13: 38,707,392 (GRCm39)	M1K	probably null	Het
Ubr2	A	C	17: 47,293,218 (GRCm39)	M356R	possibly damaging	Het
Usp48	T	C	4: 137,333,129 (GRCm39)	F108L	probably damaging	Het
Vill	A	G	9: 118,886,867 (GRCm39)	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,114,645 (GRCm39)	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,336 (GRCm39)	D278G	probably benign	Het
Vps35l	T	G	7: 118,345,658 (GRCm39)	S59A	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,586 (GRCm39)	L79*	probably null	Het
Xxylt1	C	T	16: 30,899,799 (GRCm39)	V119M	probably damaging	Het
Zfp26	G	T	9: 20,348,989 (GRCm39)	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,389,642 (GRCm39)	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889 (GRCm39)	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,632,499 (GRCm39)	S77R	probably damaging	Het

Other mutations in Uqcrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02504:Uqcrc2	APN	7	120,242,254 (GRCm39)	missense	probably benign
R1499:Uqcrc2	UTSW	7	120,239,506 (GRCm39)	missense	probably benign	0.01
R2224:Uqcrc2	UTSW	7	120,240,937 (GRCm39)	missense	probably damaging	0.99
R4658:Uqcrc2	UTSW	7	120,250,144 (GRCm39)	missense	probably damaging	1.00
R4941:Uqcrc2	UTSW	7	120,242,301 (GRCm39)	missense	probably benign	0.00
R5551:Uqcrc2	UTSW	7	120,244,461 (GRCm39)	missense	probably damaging	1.00
R5879:Uqcrc2	UTSW	7	120,237,111 (GRCm39)	missense	probably damaging	1.00
R7534:Uqcrc2	UTSW	7	120,240,912 (GRCm39)	missense	possibly damaging	0.78
R7883:Uqcrc2	UTSW	7	120,244,440 (GRCm39)	missense	possibly damaging	0.53
R8797:Uqcrc2	UTSW	7	120,239,500 (GRCm39)	missense	probably damaging	1.00
R9626:Uqcrc2	UTSW	7	120,237,118 (GRCm39)	nonsense	probably null
Z1188:Uqcrc2	UTSW	7	120,239,516 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGAACATTTCAGCCCTTGCC -3'
(R):5'- AGTGTGCATTTCCCCTTTCTGTAAG -3'

Sequencing Primer
(F):5'- TCAGCCCTTGCCAGAATTGAG -3'
(R):5'- CCCCTTTCTGTAAGCATAATATACAC -3'

Posted On

2017-08-16