Incidental Mutation 'IGL02220:Crtc2'
ID285125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtc2
Ensembl Gene ENSMUSG00000027936
Gene NameCREB regulated transcription coactivator 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.344) question?
Stock #IGL02220
Quality Score
Status
Chromosome3
Chromosomal Location90254163-90264125 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 90259148 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000184882]
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: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A probably damaging Het
Other mutations in Crtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Crtc2 APN 3 90260805 missense probably damaging 0.98
IGL01874:Crtc2 APN 3 90258508 missense probably damaging 1.00
IGL02454:Crtc2 APN 3 90259167 missense probably benign 0.00
IGL02957:Crtc2 APN 3 90262533 missense probably damaging 1.00
R0190:Crtc2 UTSW 3 90259409 missense probably damaging 1.00
R0492:Crtc2 UTSW 3 90263497 missense probably damaging 0.99
R0707:Crtc2 UTSW 3 90263497 missense probably damaging 0.99
R0751:Crtc2 UTSW 3 90262633 nonsense probably null
R1184:Crtc2 UTSW 3 90262633 nonsense probably null
R1521:Crtc2 UTSW 3 90257383 missense probably benign 0.10
R3856:Crtc2 UTSW 3 90262570 missense probably damaging 1.00
R4283:Crtc2 UTSW 3 90259236 splice site probably benign
R4747:Crtc2 UTSW 3 90260211 missense probably damaging 1.00
R5293:Crtc2 UTSW 3 90263564 missense probably benign
R5302:Crtc2 UTSW 3 90261018 missense probably damaging 1.00
R5314:Crtc2 UTSW 3 90261041 nonsense probably null
R6170:Crtc2 UTSW 3 90259600 missense probably benign
R6887:Crtc2 UTSW 3 90261071 missense probably damaging 0.99
R7067:Crtc2 UTSW 3 90260182 missense probably benign 0.44
R7506:Crtc2 UTSW 3 90259212 missense probably damaging 1.00
R8169:Crtc2 UTSW 3 90263576 missense probably damaging 1.00
Posted On2015-04-16