Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02166:Crtc3'

282729

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 #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

80586627-80688877 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80677399 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 60 (G60R)

Ref Sequence

ENSEMBL: ENSMUSP00000113540 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122255
AA Change: G60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: G60R

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: ENSMUST00000152668

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,453	H96R	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cdh8	T	C	8: 99,190,451	D344G	probably damaging	Het
Cltc	T	C	11: 86,704,088	I1399V	probably benign	Het
Col4a1	A	T	8: 11,244,509		probably benign	Het
Dscaml1	G	A	9: 45,683,701	V701M	probably damaging	Het
Eif3b	T	A	5: 140,439,950	C632S	possibly damaging	Het
Ephb3	G	A	16: 21,220,749	R417Q	probably damaging	Het
Fpr3	T	C	17: 17,970,464		probably benign	Het
Hpdl	A	G	4: 116,820,952	V104A	probably damaging	Het
Ighv1-55	T	C	12: 115,208,220	S76G	probably benign	Het
Ikbip	T	C	10: 91,095,790	S99P	probably damaging	Het
Lnpk	T	C	2: 74,529,717	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,607,291	T803M	probably damaging	Het
Narfl	A	G	17: 25,780,320	D236G	possibly damaging	Het
Nxf2	C	A	X: 134,957,129	W89L	possibly damaging	Het
Olfr1176	A	T	2: 88,339,678	I38F	probably damaging	Het
Olfr1381	A	G	11: 49,551,930	Y61C	probably damaging	Het
Olfr803	T	A	10: 129,691,913	I43F	probably benign	Het
Osbp2	A	T	11: 3,717,983	C5S	probably damaging	Het
Ovol2	T	C	2: 144,305,730	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 65,813,492	D207G	probably benign	Het
Prdm11	C	T	2: 93,012,863	V84M	probably damaging	Het
Rspo3	T	A	10: 29,535,279	E17V	possibly damaging	Het
Scarf2	A	G	16: 17,803,756	N357D	probably damaging	Het
Scn9a	A	T	2: 66,493,103	D1447E	possibly damaging	Het
Sdad1	G	A	5: 92,291,762	T433I	probably benign	Het
Seh1l	A	G	18: 67,785,023	N149S	probably damaging	Het
Sigirr	T	C	7: 141,092,227	I268M	probably benign	Het
Slc35d2	A	G	13: 64,098,348	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,354,333	M596K	probably damaging	Het
Spta1	G	A	1: 174,190,231	E494K	probably damaging	Het
Stk32b	C	A	5: 37,499,030		probably benign	Het
Tex13b	T	C	X: 140,812,726	E122G	probably damaging	Het
Tmem35a	A	G	X: 134,304,608	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 53,946,611	D100G	probably benign	Het
Tshz3	T	C	7: 36,768,921	S112P	probably benign	Het
Tssc4	T	C	7: 143,070,201	M82T	probably benign	Het
Ttn	A	G	2: 76,732,379	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vim	T	C	2: 13,574,594	S55P	probably damaging	Het
Zmat5	T	A	11: 4,737,363	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,915,406	Q563*	probably null	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
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

2015-04-16