Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03075:Crtc3'

417670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crtc3

Ensembl Gene

ENSMUSG00000030527

Gene Name

CREB regulated transcription coactivator 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL03075

Quality Score

Status

Chromosome

Chromosomal Location

80586627-80688877 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 80604403 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122255]

Predicted Effect

probably benign
Transcript: ENSMUST00000122255

SMART Domains

Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527

Domain	Start	End	E-Value	Type
Pfam:TORC_N	11	82	1.2e-20	PFAM
Pfam:TORC_M	159	321	1.9e-64	PFAM
low complexity region	366	380	N/A	INTRINSIC
low complexity region	438	480	N/A	INTRINSIC
Pfam:TORC_C	545	619	2.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127326

Predicted Effect

probably benign
Transcript: ENSMUST00000149176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206056

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	G	A	13: 4,272,255	R263C	probably damaging	Het
Axdnd1	A	T	1: 156,395,442	S217T	probably damaging	Het
Ctnna2	A	T	6: 76,954,730	M642K	probably benign	Het
Ddx56	A	T	11: 6,261,632	H491Q	probably benign	Het
Dvl1	A	G	4: 155,854,583	E208G	probably damaging	Het
Fam135a	A	G	1: 24,030,906		probably benign	Het
Gabpa	T	A	16: 84,852,607	V234D	possibly damaging	Het
Gjb4	A	G	4: 127,351,593	V185A	possibly damaging	Het
Hlcs	C	T	16: 94,138,847	A149T	probably damaging	Het
Il1f10	T	A	2: 24,293,176	I44N	possibly damaging	Het
Itih4	A	G	14: 30,892,283	I397V	probably benign	Het
Kat6b	C	T	14: 21,661,570	R820*	probably null	Het
Mmp17	T	C	5: 129,595,074	L137P	probably damaging	Het
Myh2	A	G	11: 67,180,836	N493S	probably benign	Het
Myo9b	A	T	8: 71,354,527	Q1589L	probably damaging	Het
Olfr202	T	A	16: 59,283,928	T190S	possibly damaging	Het
Olfr389	A	T	11: 73,776,472	L285Q	probably damaging	Het
Osbpl8	A	G	10: 111,291,556	I834V	probably benign	Het
P2ry12	A	T	3: 59,218,158	V32D	probably damaging	Het
Polg	A	G	7: 79,451,912	V1052A	probably damaging	Het
Prss38	A	C	11: 59,373,055	V277G	probably damaging	Het
Rell2	G	T	18: 37,957,681	R137L	probably damaging	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slco1a6	C	T	6: 142,103,149		probably benign	Het
Smyd2	T	A	1: 189,888,832	I230F	probably damaging	Het
Sv2b	G	T	7: 75,136,320	H451N	probably benign	Het
Tbpl2	A	T	2: 24,071,985		probably benign	Het
Tmprss9	A	G	10: 80,884,029	D144G	possibly damaging	Het
Trove2	A	C	1: 143,770,771	S79A	probably benign	Het
Vwa8	T	C	14: 78,933,756	Y247H	probably damaging	Het
Zc3h15	T	C	2: 83,662,191	Y337H	possibly damaging	Het

Other mutations in Crtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Crtc3	APN	7	80598739	intron	probably benign
IGL01325:Crtc3	APN	7	80677368	missense	probably damaging	0.96
IGL01802:Crtc3	APN	7	80604368	nonsense	probably null
IGL02166:Crtc3	APN	7	80677399	missense	probably damaging	1.00
IGL02601:Crtc3	APN	7	80592567	missense	probably damaging	1.00
IGL02719:Crtc3	APN	7	80618658	critical splice acceptor site	probably null
IGL02936:Crtc3	APN	7	80589763	missense	probably damaging	1.00
R0856:Crtc3	UTSW	7	80595624	missense	probably damaging	0.99
R1655:Crtc3	UTSW	7	80598776	missense	possibly damaging	0.67
R1962:Crtc3	UTSW	7	80589931	missense	probably damaging	1.00
R4484:Crtc3	UTSW	7	80589948	missense	probably damaging	1.00
R4533:Crtc3	UTSW	7	80589795	missense	probably damaging	0.97
R4818:Crtc3	UTSW	7	80677422	missense	possibly damaging	0.65
R5292:Crtc3	UTSW	7	80618610	missense	possibly damaging	0.94
R5908:Crtc3	UTSW	7	80595794	missense	possibly damaging	0.54

Posted On

2016-08-02