Mutagenetix > Incidental Mutation

Incidental Mutation 'R3861:Ucp3'

276347

Institutional Source

Beutler Lab

Gene Symbol

Ucp3

Ensembl Gene

ENSMUSG00000032942

Gene Name

uncoupling protein 3 (mitochondrial, proton carrier)

Synonyms

Slc25a9, UCP-3

MMRRC Submission

040788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100122198-100135639 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100129458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 98 (S98P)

Ref Sequence

ENSEMBL: ENSMUSP00000102674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032958] [ENSMUST00000107059]

AlphaFold

P56501

Predicted Effect

probably benign
Transcript: ENSMUST00000032958
AA Change: S98P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: S98P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	10	107	3.1e-20	PFAM
Pfam:Mito_carr	109	207	9.6e-26	PFAM
Pfam:Mito_carr	210	301	2.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107059
AA Change: S98P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: S98P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	9	107	5.9e-22	PFAM
Pfam:Mito_carr	109	207	1.7e-27	PFAM
Pfam:Mito_carr	209	301	9.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133850

Meta Mutation Damage Score

0.1244

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous null mutants exhibit a lack of superoxide-induced uncoupling in skeletal muscle mitochondria, accompanied by increased reactive oxygen species formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	G	A	12: 18,583,411 (GRCm39)	S157N	probably benign	Het
A830018L16Rik	T	C	1: 11,658,778 (GRCm39)		probably benign	Het
Akip1	C	T	7: 109,306,613 (GRCm39)		probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Arhgef10l	A	G	4: 140,242,798 (GRCm39)	F1072L	possibly damaging	Het
Armc1	C	T	3: 19,189,196 (GRCm39)	R186Q	probably damaging	Het
Atxn2l	A	T	7: 126,101,123 (GRCm39)		probably null	Het
Cadps2	A	G	6: 23,355,860 (GRCm39)	I849T	probably damaging	Het
Ccdc28a	T	A	10: 18,100,743 (GRCm39)	Q28L	probably damaging	Het
Cdh4	T	A	2: 179,515,890 (GRCm39)	V356D	probably damaging	Het
Chd8	T	A	14: 52,474,578 (GRCm39)	Q151L	probably benign	Het
Chgb	T	A	2: 132,635,064 (GRCm39)	H335Q	probably damaging	Het
Col19a1	G	A	1: 24,365,098 (GRCm39)	P506S	probably damaging	Het
Col5a2	T	C	1: 45,419,397 (GRCm39)	T1228A	probably damaging	Het
Cpxm2	A	G	7: 131,656,648 (GRCm39)	V538A	probably benign	Het
Cramp1	A	T	17: 25,216,588 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,423,832 (GRCm39)	R831G	probably benign	Het
Cyp4f17	A	G	17: 32,747,078 (GRCm39)	D436G	probably damaging	Het
Dcaf6	A	T	1: 165,256,838 (GRCm39)	N48K	probably damaging	Het
Ddx50	C	A	10: 62,478,725 (GRCm39)	V154L	possibly damaging	Het
Dnah9	T	C	11: 65,943,820 (GRCm39)		probably benign	Het
Dnm3	T	A	1: 162,138,974 (GRCm39)	I395L	possibly damaging	Het
Elp2	C	T	18: 24,739,977 (GRCm39)	R68C	probably benign	Het
Frg1	A	T	8: 41,860,820 (GRCm39)		probably null	Het
Fsip2	G	T	2: 82,815,120 (GRCm39)	D3618Y	probably damaging	Het
Gabra2	T	C	5: 71,130,886 (GRCm39)	D314G	probably damaging	Het
Gramd1a	A	C	7: 30,835,365 (GRCm39)	D407E	possibly damaging	Het
Grm5	T	A	7: 87,779,202 (GRCm39)	S881T	possibly damaging	Het
Ikbkb	T	A	8: 23,168,852 (GRCm39)	I216F	possibly damaging	Het
Kif3a	T	C	11: 53,488,805 (GRCm39)	V634A	probably benign	Het
Ltbp1	A	T	17: 75,666,333 (GRCm39)	Y1342F	possibly damaging	Het
Mia2	G	T	12: 59,155,807 (GRCm39)	V508L	probably benign	Het
Mtus2	C	T	5: 148,250,223 (GRCm39)	T155M	probably damaging	Het
Napepld	A	T	5: 21,888,287 (GRCm39)	V54E	probably benign	Het
Nlrc4	T	C	17: 74,752,616 (GRCm39)	E589G	probably benign	Het
Nphp3	G	T	9: 103,916,525 (GRCm39)		probably benign	Het
Nr2f1	T	A	13: 78,343,794 (GRCm39)	R10*	probably null	Het
Nsfl1c	C	A	2: 151,352,824 (GRCm39)		probably null	Het
Or14a258	A	G	7: 86,035,331 (GRCm39)	V179A	possibly damaging	Het
Pcdhgc3	A	G	18: 37,941,581 (GRCm39)	T661A	probably damaging	Het
Pdzrn3	A	G	6: 101,149,332 (GRCm39)	V332A	possibly damaging	Het
Pip4p2	A	G	4: 14,902,506 (GRCm39)	N169S	probably damaging	Het
Pkhd1	C	T	1: 20,271,151 (GRCm39)	C3134Y	probably damaging	Het
Ptprz1	T	C	6: 23,036,894 (GRCm39)	V1131A	probably damaging	Het
Rccd1	T	C	7: 79,970,116 (GRCm39)	E167G	probably benign	Het
Ror1	T	C	4: 100,265,120 (GRCm39)	I198T	possibly damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scly	C	T	1: 91,230,573 (GRCm39)		probably benign	Het
Scn4a	T	C	11: 106,216,950 (GRCm39)		probably benign	Het
Sh3rf2	T	C	18: 42,286,384 (GRCm39)	S594P	probably damaging	Het
Slc19a1	G	A	10: 76,877,809 (GRCm39)	V115M	possibly damaging	Het
Slc26a6	A	T	9: 108,731,395 (GRCm39)		probably benign	Het
Smg7	C	T	1: 152,728,349 (GRCm39)	R439K	probably null	Het
Spata31e3	T	C	13: 50,400,887 (GRCm39)	K480E	probably benign	Het
Syne2	A	G	12: 76,013,253 (GRCm39)	R2815G	probably damaging	Het
Trim75	G	A	8: 65,435,479 (GRCm39)	R324C	probably damaging	Het
Zscan29	G	C	2: 120,991,212 (GRCm39)	R859G	probably benign	Het

Other mutations in Ucp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02016:Ucp3	APN	7	100,129,766 (GRCm39)	missense	probably damaging	1.00
IGL02883:Ucp3	APN	7	100,129,849 (GRCm39)	missense	probably benign	0.00
IGL03137:Ucp3	APN	7	100,131,969 (GRCm39)	splice site	probably benign
PIT4576001:Ucp3	UTSW	7	100,129,458 (GRCm39)	missense	probably benign	0.04
R0023:Ucp3	UTSW	7	100,134,250 (GRCm39)	missense	probably benign	0.00
R0023:Ucp3	UTSW	7	100,134,250 (GRCm39)	missense	probably benign	0.00
R0532:Ucp3	UTSW	7	100,131,186 (GRCm39)	splice site	probably benign
R0616:Ucp3	UTSW	7	100,129,368 (GRCm39)	missense	probably benign	0.00
R0833:Ucp3	UTSW	7	100,128,748 (GRCm39)	nonsense	probably null
R1739:Ucp3	UTSW	7	100,131,927 (GRCm39)	missense	probably benign	0.01
R1939:Ucp3	UTSW	7	100,129,871 (GRCm39)	missense	probably benign	0.00
R3958:Ucp3	UTSW	7	100,131,946 (GRCm39)	missense	probably benign	0.00
R3959:Ucp3	UTSW	7	100,131,946 (GRCm39)	missense	probably benign	0.00
R4059:Ucp3	UTSW	7	100,131,871 (GRCm39)	missense	probably damaging	0.99
R5535:Ucp3	UTSW	7	100,129,873 (GRCm39)	missense	probably benign	0.45
R6463:Ucp3	UTSW	7	100,129,476 (GRCm39)	missense	probably benign	0.00
R6596:Ucp3	UTSW	7	100,131,140 (GRCm39)	missense	probably benign	0.01
R7517:Ucp3	UTSW	7	100,131,089 (GRCm39)	missense	probably damaging	1.00
R7693:Ucp3	UTSW	7	100,131,799 (GRCm39)	missense	probably benign	0.00
R9487:Ucp3	UTSW	7	100,131,123 (GRCm39)	missense	probably damaging	1.00
R9493:Ucp3	UTSW	7	100,131,911 (GRCm39)	missense	probably benign	0.00
Z1177:Ucp3	UTSW	7	100,129,799 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCATGCAGTTCCTACAGGCG -3'
(R):5'- GTGTCTGTCATCAGCTTGCC -3'

Sequencing Primer
(F):5'- TGTTCTTGTTCCCCAGATCCAAGG -3'
(R):5'- CATCAGCTTGCCCCGCC -3'

Posted On

2015-04-06