Incidental Mutation 'R3856:Crtc2'
| ID |
276146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crtc2
|
| Ensembl Gene |
ENSMUSG00000027936 |
| Gene Name |
CREB regulated transcription coactivator 2 |
| Synonyms |
4632407F12Rik |
| MMRRC Submission |
040902-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R3856 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90161475-90171432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90169877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 509
(L509F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029545]
[ENSMUST00000098914]
[ENSMUST00000129564]
[ENSMUST00000184882]
|
| AlphaFold |
Q3U182 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029545
AA Change: L509F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: L509F
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000098914
|
| SMART Domains |
Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
uDENN
|
183 |
290 |
1.15e-29 |
SMART |
|
DENN
|
324 |
508 |
5.26e-70 |
SMART |
|
dDENN
|
573 |
647 |
1.75e-25 |
SMART |
|
low complexity region
|
672 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
752 |
N/A |
INTRINSIC |
|
coiled coil region
|
902 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1131 |
1148 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1350 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123964
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129564
|
| SMART Domains |
Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000130002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136970
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184882
AA Change: L424F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
AA Change: L424F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156358
|
| SMART Domains |
Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
Blast:uDENN
|
39 |
97 |
9e-6 |
BLAST |
|
Blast:uDENN
|
164 |
207 |
1e-22 |
BLAST |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
C |
14: 103,292,882 (GRCm39) |
S469P |
possibly damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,757,927 (GRCm39) |
N787I |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,723,493 (GRCm39) |
T945A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,293,093 (GRCm39) |
I863N |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,548,019 (GRCm39) |
I891T |
probably benign |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,599 (GRCm39) |
T587A |
probably damaging |
Het |
| Atxn7l3 |
T |
C |
11: 102,184,729 (GRCm39) |
D128G |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,611,427 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ccdc60 |
A |
C |
5: 116,310,514 (GRCm39) |
C183G |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Cnst |
C |
T |
1: 179,407,279 (GRCm39) |
P109S |
probably benign |
Het |
| Ctsr |
A |
T |
13: 61,309,750 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dffa |
A |
T |
4: 149,188,708 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eef2k |
T |
A |
7: 120,498,594 (GRCm39) |
C91* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,782,283 (GRCm39) |
D1336G |
probably damaging |
Het |
| F12 |
G |
A |
13: 55,569,035 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbxo40 |
A |
T |
16: 36,789,445 (GRCm39) |
L555Q |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,283,698 (GRCm39) |
S840P |
probably damaging |
Het |
| Gadd45a |
C |
T |
6: 67,013,989 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Gpr171 |
T |
C |
3: 59,005,506 (GRCm39) |
T90A |
probably damaging |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| H2-M10.6 |
T |
A |
17: 37,123,396 (GRCm39) |
I30N |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Hspa4l |
C |
A |
3: 40,739,821 (GRCm39) |
H698Q |
probably benign |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,010,428 (GRCm39) |
R605H |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,867 (GRCm39) |
V207E |
probably damaging |
Het |
| Pbp2 |
A |
G |
6: 135,287,143 (GRCm39) |
L68P |
probably benign |
Het |
| Pcnx3 |
G |
T |
19: 5,728,995 (GRCm39) |
T547K |
probably benign |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,362 (GRCm39) |
|
probably benign |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Pudp |
T |
C |
18: 50,701,124 (GRCm39) |
N203S |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,015,717 (GRCm39) |
T737M |
probably damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,759 (GRCm39) |
N89S |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,248,539 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
C |
5: 89,380,698 (GRCm39) |
S1015R |
probably benign |
Het |
| Slc8a1 |
T |
C |
17: 81,955,803 (GRCm39) |
T412A |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,014,075 (GRCm39) |
D2116V |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,727,120 (GRCm39) |
F396L |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,439 (GRCm39) |
F133I |
possibly damaging |
Het |
| Zfp735 |
T |
C |
11: 73,602,282 (GRCm39) |
S409P |
probably benign |
Het |
|
| Other mutations in Crtc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTACAAGGTGGGGAACTC -3'
(R):5'- GTGACCACTCAAGTAACTGACC -3'
Sequencing Primer
(F):5'- CTTACAAGGTGGGGAACTCTTAAG -3'
(R):5'- CATCCCCCATTTCAGAACTATGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation