Incidental Mutation 'R6745:Creb5'
| ID |
530526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb5
|
| Ensembl Gene |
ENSMUSG00000053007 |
| Gene Name |
cAMP responsive element binding protein 5 |
| Synonyms |
D430026C09Rik, Crebpa, 9430076C15Rik |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
53264255-53677361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53581517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 172
(M172L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047450]
[ENSMUST00000203487]
[ENSMUST00000203528]
[ENSMUST00000203641]
[ENSMUST00000205120]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047450
AA Change: M172L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: M172L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
BRLZ
|
222 |
286 |
1.91e-20 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203487
AA Change: M179L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: M179L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
16 |
40 |
7.9e-5 |
SMART |
|
low complexity region
|
268 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
BRLZ
|
373 |
437 |
8e-23 |
SMART |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
495 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203528
AA Change: M172L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: M172L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
9 |
33 |
7.9e-5 |
SMART |
|
low complexity region
|
261 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
BRLZ
|
366 |
430 |
8e-23 |
SMART |
|
low complexity region
|
448 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203641
AA Change: M27L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205120
AA Change: M28L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: M28L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
BRLZ
|
222 |
286 |
1.91e-20 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0566 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
| Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
| Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,589,919 (GRCm39) |
R59C |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 48,986,329 (GRCm39) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
| Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
| Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,308 (GRCm39) |
D359G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,696,614 (GRCm39) |
N265S |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
probably benign |
Het |
| Zswim5 |
C |
G |
4: 116,832,401 (GRCm39) |
P543A |
probably damaging |
Het |
|
| Other mutations in Creb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02114:Creb5
|
APN |
6 |
53,581,443 (GRCm39) |
splice site |
probably benign |
|
|
IGL02475:Creb5
|
APN |
6 |
53,670,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02663:Creb5
|
APN |
6 |
53,657,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0054:Creb5
|
UTSW |
6 |
53,424,642 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0452:Creb5
|
UTSW |
6 |
53,581,527 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4580:Creb5
|
UTSW |
6 |
53,581,519 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4809:Creb5
|
UTSW |
6 |
53,587,411 (GRCm39) |
missense |
probably null |
0.71 |
|
R4957:Creb5
|
UTSW |
6 |
53,670,907 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5375:Creb5
|
UTSW |
6 |
53,658,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6552:Creb5
|
UTSW |
6 |
53,662,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6616:Creb5
|
UTSW |
6 |
53,662,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6679:Creb5
|
UTSW |
6 |
53,662,454 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7428:Creb5
|
UTSW |
6 |
53,658,143 (GRCm39) |
missense |
unknown |
|
|
R7581:Creb5
|
UTSW |
6 |
53,658,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8301:Creb5
|
UTSW |
6 |
53,658,018 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9574:Creb5
|
UTSW |
6 |
53,658,039 (GRCm39) |
missense |
unknown |
|
|
X0065:Creb5
|
UTSW |
6 |
53,662,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCTCACATCAGAGGATC -3'
(R):5'- AGTACCCTATGCATCCTGGC -3'
Sequencing Primer
(F):5'- CACATCAGAGGATCCGATCTGTTTG -3'
(R):5'- CAAATGCATTCAGAGGCAGCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation