Incidental Mutation 'R6887:Crtc2'
ID 536984
Institutional Source Beutler Lab
Gene Symbol Crtc2
Ensembl Gene ENSMUSG00000027936
Gene Name CREB regulated transcription coactivator 2
MMRRC Submission 044981-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R6887 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90254163-90264125 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90261071 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 374 (T374A)
Ref Sequence ENSEMBL: ENSMUSP00000139194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000129564] [ENSMUST00000184882]
AlphaFold Q3U182
Predicted Effect probably damaging
Transcript: ENSMUST00000029545
AA Change: T459A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: T459A

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 probably benign
Transcript: ENSMUST00000129564
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

low complexity region 32 46 N/A INTRINSIC
uDENN 172 279 1.15e-29 SMART
DENN 313 497 5.26e-70 SMART
dDENN 562 636 1.75e-25 SMART
low complexity region 661 679 N/A INTRINSIC
low complexity region 729 741 N/A INTRINSIC
coiled coil region 891 917 N/A INTRINSIC
low complexity region 1011 1027 N/A INTRINSIC
low complexity region 1075 1085 N/A INTRINSIC
low complexity region 1103 1116 N/A INTRINSIC
low complexity region 1120 1137 N/A INTRINSIC
low complexity region 1327 1339 N/A INTRINSIC
low complexity region 1413 1428 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000184882
AA Change: T374A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
AA Change: T374A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 79,092,483 (GRCm38) V543I probably damaging Het
Adcy5 A G 16: 35,298,590 (GRCm38) I1104V possibly damaging Het
Adgrl4 A T 3: 151,542,733 (GRCm38) I681F possibly damaging Het
Adgrv1 T A 13: 81,528,701 (GRCm38) M2004L probably benign Het
Anapc1 A G 2: 128,659,768 (GRCm38) S785P possibly damaging Het
Ap3d1 A T 10: 80,723,698 (GRCm38) I242N probably damaging Het
Arhgap5 T C 12: 52,519,144 (GRCm38) L966P probably benign Het
Atp8a1 T C 5: 67,738,451 (GRCm38) T547A probably benign Het
Cadps A G 14: 12,505,811 (GRCm38) F753S probably damaging Het
Cdc20b T C 13: 113,078,653 (GRCm38) S252P possibly damaging Het
Cep63 A G 9: 102,625,927 (GRCm38) probably benign Het
Chrna5 G T 9: 55,005,133 (GRCm38) V302L probably benign Het
Dmtf1 T G 5: 9,137,149 (GRCm38) D140A probably damaging Het
Exosc8 C T 3: 54,733,699 (GRCm38) V39M probably damaging Het
Fam135b A C 15: 71,463,315 (GRCm38) S677A probably damaging Het
Hif1an T C 19: 44,563,389 (GRCm38) Y93H probably damaging Het
Hrc T C 7: 45,335,664 (GRCm38) F80L probably benign Het
Jmjd1c A G 10: 67,189,820 (GRCm38) T139A possibly damaging Het
Kdr T G 5: 75,968,451 (GRCm38) R178S probably benign Het
Lrrc61 A C 6: 48,568,432 (GRCm38) N63T probably damaging Het
Mrc1 C T 2: 14,325,237 (GRCm38) A1219V possibly damaging Het
Neto1 T C 18: 86,498,635 (GRCm38) V359A probably benign Het
Ngly1 T C 14: 16,281,836 (GRCm38) I364T probably benign Het
Nisch C T 14: 31,185,344 (GRCm38) probably benign Het
Olfr1373 C A 11: 52,145,352 (GRCm38) M59I probably benign Het
Prrc2a T C 17: 35,155,675 (GRCm38) D1333G probably damaging Het
Raly G T 2: 154,861,910 (GRCm38) V134F probably damaging Het
Rbm6 T C 9: 107,852,231 (GRCm38) Y406C probably damaging Het
Robo4 G C 9: 37,402,067 (GRCm38) E6Q possibly damaging Het
Scnn1g C A 7: 121,760,444 (GRCm38) S383R probably benign Het
Sgtb T C 13: 104,111,151 (GRCm38) W13R probably benign Het
Slit3 T C 11: 35,544,806 (GRCm38) probably null Het
Tbc1d32 G A 10: 56,151,811 (GRCm38) Q732* probably null Het
Tek T A 4: 94,804,944 (GRCm38) C247S probably damaging Het
Tmf1 A T 6: 97,176,838 (GRCm38) D91E probably damaging Het
Usp39 A G 6: 72,333,157 (GRCm38) L326P probably damaging Het
Vmn2r7 A T 3: 64,690,827 (GRCm38) C770S probably damaging Het
Wdr31 C T 4: 62,457,565 (GRCm38) G58R probably benign Het
Zfyve26 A G 12: 79,266,449 (GRCm38) I54T probably damaging Het
Other mutations in Crtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Crtc2 APN 3 90,260,805 (GRCm38) missense probably damaging 0.98
IGL01874:Crtc2 APN 3 90,258,508 (GRCm38) missense probably damaging 1.00
IGL02220:Crtc2 APN 3 90,259,148 (GRCm38) splice site probably benign
IGL02454:Crtc2 APN 3 90,259,167 (GRCm38) missense probably benign 0.00
IGL02957:Crtc2 APN 3 90,262,533 (GRCm38) missense probably damaging 1.00
R0190:Crtc2 UTSW 3 90,259,409 (GRCm38) missense probably damaging 1.00
R0492:Crtc2 UTSW 3 90,263,497 (GRCm38) missense probably damaging 0.99
R0707:Crtc2 UTSW 3 90,263,497 (GRCm38) missense probably damaging 0.99
R0751:Crtc2 UTSW 3 90,262,633 (GRCm38) nonsense probably null
R1184:Crtc2 UTSW 3 90,262,633 (GRCm38) nonsense probably null
R1521:Crtc2 UTSW 3 90,257,383 (GRCm38) missense probably benign 0.10
R3856:Crtc2 UTSW 3 90,262,570 (GRCm38) missense probably damaging 1.00
R4283:Crtc2 UTSW 3 90,259,236 (GRCm38) splice site probably benign
R4747:Crtc2 UTSW 3 90,260,211 (GRCm38) missense probably damaging 1.00
R5293:Crtc2 UTSW 3 90,263,564 (GRCm38) missense probably benign
R5302:Crtc2 UTSW 3 90,261,018 (GRCm38) missense probably damaging 1.00
R5314:Crtc2 UTSW 3 90,261,041 (GRCm38) nonsense probably null
R6170:Crtc2 UTSW 3 90,259,600 (GRCm38) missense probably benign
R7067:Crtc2 UTSW 3 90,260,182 (GRCm38) missense probably benign 0.44
R7506:Crtc2 UTSW 3 90,259,212 (GRCm38) missense probably damaging 1.00
R8169:Crtc2 UTSW 3 90,263,576 (GRCm38) missense probably damaging 1.00
R8559:Crtc2 UTSW 3 90,263,597 (GRCm38) missense possibly damaging 0.95
R8825:Crtc2 UTSW 3 90,259,156 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-10-18