Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01087:Crtc3'

51487

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?

Possibly non essential (E-score: 0.317) question?

Stock #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

80586627-80688877 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 80598739 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

noncoding transcript
Transcript: ENSMUST00000127182

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,162,788		probably null	Het
Abca6	C	A	11: 110,191,650	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,933,624	K46N	probably damaging	Het
Ash1l	T	A	3: 89,063,902	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,166,191	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,325,310	D394G	probably damaging	Het
Btbd10	T	C	7: 113,316,556	D442G	probably damaging	Het
Cd44	A	T	2: 102,822,262	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Chsy1	T	G	7: 66,172,126	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,463,969		probably benign	Het
Cul1	A	G	6: 47,509,044	T342A	probably benign	Het
Dgki	T	C	6: 37,012,911	D631G	probably damaging	Het
Eif3b	T	C	5: 140,441,107	I706T	probably damaging	Het
Fam120a	A	G	13: 48,902,073	L713P	probably damaging	Het
I830077J02Rik	C	A	3: 105,928,733		probably null	Het
Jmjd8	A	C	17: 25,829,171		probably benign	Het
Kmt5a	T	C	5: 124,451,380		probably benign	Het
Krt87	C	A	15: 101,431,825	C486F	probably benign	Het
Lrp2	A	T	2: 69,524,073	N470K	probably damaging	Het
Med1	C	A	11: 98,180,285	D79Y	probably damaging	Het
Myo1d	A	G	11: 80,682,435	S189P	probably damaging	Het
Myo9a	T	A	9: 59,790,078	Y381N	possibly damaging	Het
Nipbl	C	A	15: 8,350,497	S937I	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858		noncoding transcript	Het
Nutm2	A	G	13: 50,469,629	T121A	probably damaging	Het
Olfr93	C	T	17: 37,151,441	C177Y	probably damaging	Het
Opa1	C	T	16: 29,586,997	P127S	probably damaging	Het
Pcdh15	A	T	10: 74,342,632	I574F	possibly damaging	Het
Pcnx	G	A	12: 81,995,339		probably benign	Het
Prex2	A	G	1: 11,068,104	T136A	probably benign	Het
Prph2	A	G	17: 46,911,159	T155A	probably damaging	Het
Rsl1d1	T	C	16: 11,194,675	K296E	possibly damaging	Het
Syne1	A	T	10: 5,425,708	I128N	probably damaging	Het
Tlk1	A	T	2: 70,752,316	N156K	possibly damaging	Het
Trem2	C	T	17: 48,351,928	T222I	probably damaging	Het
Trip12	A	T	1: 84,757,859	F872L	probably damaging	Het
Trrap	T	A	5: 144,846,539	S3393T	probably damaging	Het
Vwa8	T	A	14: 78,935,229	S304T	probably benign	Het
Zc3h7a	T	C	16: 11,153,182	T328A	probably benign	Het

Other mutations in Crtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03075:Crtc3	APN	7	80604403	intron	probably benign
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

2013-06-21