Incidental Mutation 'IGL02220:Crtc2'
ID 285125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtc2
Ensembl Gene ENSMUSG00000027936
Gene Name CREB regulated transcription coactivator 2
Synonyms 4632407F12Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # IGL02220
Quality Score
Status
Chromosome 3
Chromosomal Location 90161475-90171432 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 90166455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000184882]
AlphaFold Q3U182
Predicted Effect probably benign
Transcript: ENSMUST00000029545
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
Pfam:TORC_N 18 72 1.8e-20 PFAM
low complexity region 127 141 N/A INTRINSIC
Pfam:TORC_M 168 323 3.7e-71 PFAM
low complexity region 335 384 N/A INTRINSIC
low complexity region 391 416 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 484 494 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Pfam:TORC_C 614 691 4.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149897
Predicted Effect probably benign
Transcript: ENSMUST00000184882
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:TORC_M 83 239 6.5e-65 PFAM
low complexity region 250 299 N/A INTRINSIC
low complexity region 306 331 N/A INTRINSIC
low complexity region 347 354 N/A INTRINSIC
low complexity region 399 409 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
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 encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating corticosterone levels, hepatocyte secretion of glucose in response to glucagon, and glycogen levels in liver and muscle cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,310,395 (GRCm39) D460G probably damaging Het
Ankrd9 T C 12: 110,943,933 (GRCm39) M1V probably null Het
Anks1 T C 17: 28,273,681 (GRCm39) I977T probably damaging Het
Bcar1 T C 8: 112,437,839 (GRCm39) D767G possibly damaging Het
Bcl6 A T 16: 23,793,641 (GRCm39) I102N probably damaging Het
Cacna2d2 G A 9: 107,392,078 (GRCm39) G473D probably damaging Het
Cdh23 G T 10: 60,140,903 (GRCm39) H3148Q probably damaging Het
Col6a4 A G 9: 105,940,141 (GRCm39) V1263A possibly damaging Het
D130043K22Rik G A 13: 25,067,738 (GRCm39) G825S possibly damaging Het
Dera T A 6: 137,757,815 (GRCm39) probably null Het
Dnah17 G T 11: 117,963,793 (GRCm39) Y2506* probably null Het
Enam T A 5: 88,652,418 (GRCm39) L1309* probably null Het
Fbxo15 G A 18: 84,982,317 (GRCm39) probably null Het
Fgfbp1 T C 5: 44,136,828 (GRCm39) K155E probably damaging Het
Foxj2 C T 6: 122,815,540 (GRCm39) probably benign Het
Fuca1 A G 4: 135,666,530 (GRCm39) probably benign Het
Gad1-ps T A 10: 99,281,184 (GRCm39) noncoding transcript Het
H2-Eb2 C T 17: 34,544,661 (GRCm39) probably benign Het
Insr A T 8: 3,209,578 (GRCm39) F1168L probably damaging Het
Isx T A 8: 75,619,333 (GRCm39) V175E possibly damaging Het
Kansl3 T C 1: 36,407,070 (GRCm39) probably benign Het
Lin9 T C 1: 180,494,932 (GRCm39) I218T probably damaging Het
Llgl2 C A 11: 115,736,205 (GRCm39) A126D possibly damaging Het
Ltbp2 T C 12: 84,876,083 (GRCm39) E488G possibly damaging Het
Maml3 A G 3: 51,597,639 (GRCm39) V369A possibly damaging Het
Mthfsl A G 9: 88,597,708 (GRCm39) I14T probably damaging Het
Myo3b A G 2: 70,119,923 (GRCm39) probably benign Het
Nfkbil1 T C 17: 35,439,722 (GRCm39) R264G possibly damaging Het
Or4c3d A G 2: 89,882,038 (GRCm39) L210P probably damaging Het
Pde5a G T 3: 122,542,031 (GRCm39) A174S probably benign Het
Plch1 A T 3: 63,606,382 (GRCm39) I1173N probably damaging Het
Ppfia1 C A 7: 144,035,512 (GRCm39) R1171L probably damaging Het
Prom1 T C 5: 44,172,131 (GRCm39) D595G probably damaging Het
Ptprz1 T C 6: 23,042,742 (GRCm39) probably benign Het
Samsn1 A G 16: 75,680,763 (GRCm39) probably null Het
Sbno2 T A 10: 79,908,202 (GRCm39) T66S probably benign Het
Serpina1c T A 12: 103,862,338 (GRCm39) I326F probably damaging Het
Slc12a1 T C 2: 125,030,190 (GRCm39) probably null Het
Slc18a2 A G 19: 59,264,988 (GRCm39) E324G probably benign Het
Slc40a1 A T 1: 45,950,495 (GRCm39) M319K probably damaging Het
Slc44a5 T C 3: 153,956,608 (GRCm39) Y287H possibly damaging Het
Stx4a A G 7: 127,441,672 (GRCm39) E63G possibly damaging Het
Sv2a T C 3: 96,098,032 (GRCm39) F545S probably benign Het
Svop T C 5: 114,203,589 (GRCm39) D65G probably benign Het
Tex30 A T 1: 44,126,182 (GRCm39) S182R probably benign Het
Tmem121b T C 6: 120,469,298 (GRCm39) D473G probably damaging Het
Tnfrsf19 C A 14: 61,210,941 (GRCm39) probably benign Het
Tnrc6a T C 7: 122,769,679 (GRCm39) S490P probably benign Het
Ubr4 A G 4: 139,115,746 (GRCm39) T82A probably benign Het
Vps16 A G 2: 130,283,573 (GRCm39) D589G possibly damaging Het
Zscan29 A C 2: 120,997,170 (GRCm39) S184A probably damaging Het
Other mutations in Crtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Crtc2 APN 3 90,168,112 (GRCm39) missense probably damaging 0.98
IGL01874:Crtc2 APN 3 90,165,815 (GRCm39) missense probably damaging 1.00
IGL02454:Crtc2 APN 3 90,166,474 (GRCm39) missense probably benign 0.00
IGL02957:Crtc2 APN 3 90,169,840 (GRCm39) missense probably damaging 1.00
R0190:Crtc2 UTSW 3 90,166,716 (GRCm39) missense probably damaging 1.00
R0492:Crtc2 UTSW 3 90,170,804 (GRCm39) missense probably damaging 0.99
R0707:Crtc2 UTSW 3 90,170,804 (GRCm39) missense probably damaging 0.99
R0751:Crtc2 UTSW 3 90,169,940 (GRCm39) nonsense probably null
R1184:Crtc2 UTSW 3 90,169,940 (GRCm39) nonsense probably null
R1521:Crtc2 UTSW 3 90,164,690 (GRCm39) missense probably benign 0.10
R3856:Crtc2 UTSW 3 90,169,877 (GRCm39) missense probably damaging 1.00
R4283:Crtc2 UTSW 3 90,166,543 (GRCm39) splice site probably benign
R4747:Crtc2 UTSW 3 90,167,518 (GRCm39) missense probably damaging 1.00
R5293:Crtc2 UTSW 3 90,170,871 (GRCm39) missense probably benign
R5302:Crtc2 UTSW 3 90,168,325 (GRCm39) missense probably damaging 1.00
R5314:Crtc2 UTSW 3 90,168,348 (GRCm39) nonsense probably null
R6170:Crtc2 UTSW 3 90,166,907 (GRCm39) missense probably benign
R6887:Crtc2 UTSW 3 90,168,378 (GRCm39) missense probably damaging 0.99
R7067:Crtc2 UTSW 3 90,167,489 (GRCm39) missense probably benign 0.44
R7506:Crtc2 UTSW 3 90,166,519 (GRCm39) missense probably damaging 1.00
R8169:Crtc2 UTSW 3 90,170,883 (GRCm39) missense probably damaging 1.00
R8559:Crtc2 UTSW 3 90,170,904 (GRCm39) missense possibly damaging 0.95
R8825:Crtc2 UTSW 3 90,166,463 (GRCm39) missense probably benign
Posted On 2015-04-16