Incidental Mutation 'R7067:Crtc2'
ID 548610
Institutional Source Beutler Lab
Gene Symbol Crtc2
Ensembl Gene ENSMUSG00000027936
Gene Name CREB regulated transcription coactivator 2
Synonyms 4632407F12Rik
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90161475-90171432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90167489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 271 (N271S)
Ref Sequence ENSEMBL: ENSMUSP00000029545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000184882]
AlphaFold Q3U182
Predicted Effect probably benign
Transcript: ENSMUST00000029545
AA Change: N271S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: N271S

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 probably benign
Transcript: ENSMUST00000184882
AA Change: N186S

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
AA Change: N186S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G 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
IGL02220:Crtc2 APN 3 90,166,455 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCGATCCTGTGAAGTCCCTG -3'
(R):5'- ACTCACCTGGTACATCATAGCTG -3'

Sequencing Primer
(F):5'- TCCTGTGAAGTCCCTGGAATCAAG -3'
(R):5'- TACATCATAGCTGGGGCCCAAG -3'
Posted On 2019-05-13