Mutagenetix > Incidental Mutation

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

6332415K15Rik, 2610312F20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL03075

Quality Score

Status

Chromosome

Chromosomal Location

80236375-80338625 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 80254151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q91X84

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: 4,322,254 (GRCm39)	R263C	probably damaging	Het
Axdnd1	A	T	1: 156,223,012 (GRCm39)	S217T	probably damaging	Het
Ctnna2	A	T	6: 76,931,713 (GRCm39)	M642K	probably benign	Het
Ddx56	A	T	11: 6,211,632 (GRCm39)	H491Q	probably benign	Het
Dvl1	A	G	4: 155,939,040 (GRCm39)	E208G	probably damaging	Het
Fam135a	A	G	1: 24,069,987 (GRCm39)		probably benign	Het
Gabpa	T	A	16: 84,649,495 (GRCm39)	V234D	possibly damaging	Het
Gjb4	A	G	4: 127,245,386 (GRCm39)	V185A	possibly damaging	Het
Hlcs	C	T	16: 93,939,706 (GRCm39)	A149T	probably damaging	Het
Il1f10	T	A	2: 24,183,188 (GRCm39)	I44N	possibly damaging	Het
Itih4	A	G	14: 30,614,240 (GRCm39)	I397V	probably benign	Het
Kat6b	C	T	14: 21,711,638 (GRCm39)	R820*	probably null	Het
Mmp17	T	C	5: 129,672,138 (GRCm39)	L137P	probably damaging	Het
Myh2	A	G	11: 67,071,662 (GRCm39)	N493S	probably benign	Het
Myo9b	A	T	8: 71,807,171 (GRCm39)	Q1589L	probably damaging	Het
Or1e29	A	T	11: 73,667,298 (GRCm39)	L285Q	probably damaging	Het
Or5ac20	T	A	16: 59,104,291 (GRCm39)	T190S	possibly damaging	Het
Osbpl8	A	G	10: 111,127,417 (GRCm39)	I834V	probably benign	Het
P2ry12	A	T	3: 59,125,579 (GRCm39)	V32D	probably damaging	Het
Polg	A	G	7: 79,101,660 (GRCm39)	V1052A	probably damaging	Het
Prss38	A	C	11: 59,263,881 (GRCm39)	V277G	probably damaging	Het
Rell2	G	T	18: 38,090,734 (GRCm39)	R137L	probably damaging	Het
Ro60	A	C	1: 143,646,509 (GRCm39)	S79A	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slco1a6	C	T	6: 142,048,875 (GRCm39)		probably benign	Het
Smyd2	T	A	1: 189,621,029 (GRCm39)	I230F	probably damaging	Het
Sv2b	G	T	7: 74,786,068 (GRCm39)	H451N	probably benign	Het
Tbpl2	A	T	2: 23,961,997 (GRCm39)		probably benign	Het
Tmprss9	A	G	10: 80,719,863 (GRCm39)	D144G	possibly damaging	Het
Vwa8	T	C	14: 79,171,196 (GRCm39)	Y247H	probably damaging	Het
Zc3h15	T	C	2: 83,492,535 (GRCm39)	Y337H	possibly damaging	Het

Other mutations in Crtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Crtc3	APN	7	80,248,487 (GRCm39)	intron	probably benign
IGL01325:Crtc3	APN	7	80,327,116 (GRCm39)	missense	probably damaging	0.96
IGL01802:Crtc3	APN	7	80,254,116 (GRCm39)	nonsense	probably null
IGL02166:Crtc3	APN	7	80,327,147 (GRCm39)	missense	probably damaging	1.00
IGL02601:Crtc3	APN	7	80,242,315 (GRCm39)	missense	probably damaging	1.00
IGL02719:Crtc3	APN	7	80,268,406 (GRCm39)	critical splice acceptor site	probably null
IGL02936:Crtc3	APN	7	80,239,511 (GRCm39)	missense	probably damaging	1.00
R0856:Crtc3	UTSW	7	80,245,372 (GRCm39)	missense	probably damaging	0.99
R1655:Crtc3	UTSW	7	80,248,524 (GRCm39)	missense	possibly damaging	0.67
R1962:Crtc3	UTSW	7	80,239,679 (GRCm39)	missense	probably damaging	1.00
R4484:Crtc3	UTSW	7	80,239,696 (GRCm39)	missense	probably damaging	1.00
R4533:Crtc3	UTSW	7	80,239,543 (GRCm39)	missense	probably damaging	0.97
R4818:Crtc3	UTSW	7	80,327,170 (GRCm39)	missense	possibly damaging	0.65
R5292:Crtc3	UTSW	7	80,268,358 (GRCm39)	missense	possibly damaging	0.94
R5908:Crtc3	UTSW	7	80,245,542 (GRCm39)	missense	possibly damaging	0.54
R8991:Crtc3	UTSW	7	80,327,191 (GRCm39)	missense	probably damaging	0.96
R9092:Crtc3	UTSW	7	80,239,628 (GRCm39)	missense	probably benign
R9121:Crtc3	UTSW	7	80,242,323 (GRCm39)	missense	probably damaging	1.00
R9170:Crtc3	UTSW	7	80,248,697 (GRCm39)	missense	probably damaging	0.99
R9321:Crtc3	UTSW	7	80,259,650 (GRCm39)	missense	probably benign	0.04

Posted On

2016-08-02