Incidental Mutation 'IGL03075:Crtc3'
ID417670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtc3
Ensembl Gene ENSMUSG00000030527
Gene NameCREB 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
Chromosome7
Chromosomal Location80586627-80688877 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to A at 80604403 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000122255]
Predicted Effect probably benign
Transcript: ENSMUST00000122255
SMART Domains Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2016-08-02