Incidental Mutation 'IGL02936:Crtc3'
ID 364331
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 # IGL02936
Quality Score
Status
Chromosome 7
Chromosomal Location 80236375-80338625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80239511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 614 (F614L)
Ref Sequence ENSEMBL: ENSMUSP00000113540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122255]
AlphaFold Q91X84
Predicted Effect probably damaging
Transcript: ENSMUST00000122255
AA Change: F614L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: F614L

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: ENSMUST00000149176
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,687 (GRCm39) T229I possibly damaging Het
Acad11 T C 9: 103,990,711 (GRCm39) S439P probably benign Het
Acer2 A T 4: 86,818,796 (GRCm39) N148I possibly damaging Het
Adgre1 A G 17: 57,785,833 (GRCm39) I860V probably benign Het
Asb2 A G 12: 103,302,173 (GRCm39) I125T probably benign Het
Atp13a2 G T 4: 140,729,260 (GRCm39) L614F probably benign Het
Car7 A G 8: 105,274,854 (GRCm39) T132A possibly damaging Het
Cfap221 T C 1: 119,912,482 (GRCm39) D135G probably damaging Het
Csn3 T G 5: 88,077,992 (GRCm39) I166S possibly damaging Het
Dna2 T G 10: 62,792,879 (GRCm39) L298R probably damaging Het
Ece1 T C 4: 137,673,612 (GRCm39) S387P probably benign Het
Fbxo28 C T 1: 182,169,093 (GRCm39) G15D unknown Het
Fbxw24 A T 9: 109,454,026 (GRCm39) probably null Het
Foxd3 T A 4: 99,545,052 (GRCm39) V64E probably benign Het
Galnt7 A C 8: 58,037,248 (GRCm39) V47G probably benign Het
Gcc2 A T 10: 58,131,962 (GRCm39) L1453F probably damaging Het
Gcnt4 G A 13: 97,082,919 (GRCm39) V72I probably benign Het
Gm10269 A C 18: 20,816,010 (GRCm39) probably null Het
Hmcn1 T G 1: 150,573,273 (GRCm39) Q2125H probably damaging Het
Iho1 T C 9: 108,289,702 (GRCm39) I173M possibly damaging Het
Llcfc1 T A 6: 41,661,593 (GRCm39) S48T probably benign Het
Met G T 6: 17,553,396 (GRCm39) V1061F probably damaging Het
Mthfd2 G A 6: 83,288,342 (GRCm39) H138Y probably damaging Het
Mtus1 A T 8: 41,452,554 (GRCm39) D1041E possibly damaging Het
Mug2 G A 6: 122,058,346 (GRCm39) probably null Het
Nos3 C T 5: 24,585,991 (GRCm39) T878I probably damaging Het
Or4c15 A G 2: 88,760,128 (GRCm39) M177T probably benign Het
Or52b1 A T 7: 104,979,212 (GRCm39) Y62* probably null Het
Pbrm1 T A 14: 30,783,470 (GRCm39) V497D probably damaging Het
Plcd1 T C 9: 118,903,267 (GRCm39) E471G probably damaging Het
Poc1a A G 9: 106,162,226 (GRCm39) T84A probably damaging Het
Ppm1f A G 16: 16,733,100 (GRCm39) H209R probably damaging Het
Rccd1 T A 7: 79,966,794 (GRCm39) K329N probably damaging Het
Serpinb9g A T 13: 33,678,865 (GRCm39) N245I possibly damaging Het
Slc22a26 A C 19: 7,768,470 (GRCm39) F196V probably damaging Het
Tial1 G A 7: 128,044,387 (GRCm39) probably benign Het
Trpa1 A T 1: 14,946,193 (GRCm39) probably null Het
Vmn1r15 A T 6: 57,235,803 (GRCm39) K224* probably null Het
Wdr72 A T 9: 74,059,862 (GRCm39) D424V probably damaging Het
Wt1 A G 2: 104,999,384 (GRCm39) K308E probably damaging Het
Zwint T C 10: 72,492,956 (GRCm39) S193P probably damaging Het
Other mutations in Crtc3
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03075:Crtc3 APN 7 80,254,151 (GRCm39) intron probably benign
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 2015-12-18