Incidental Mutation 'R0069:Creb1'
| ID |
33078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb1
|
| Ensembl Gene |
ENSMUSG00000025958 |
| Gene Name |
cAMP responsive element binding protein 1 |
| Synonyms |
Creb, Creb-1, 2310001E10Rik, 3526402H21Rik |
| MMRRC Submission |
038360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R0069 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
64571963-64643707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64615367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 240
(I240V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049932]
[ENSMUST00000087366]
[ENSMUST00000171164]
[ENSMUST00000185594]
[ENSMUST00000187811]
[ENSMUST00000190348]
[ENSMUST00000190876]
|
| AlphaFold |
Q01147 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049932
AA Change: I254V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958
AA Change: I254V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
89 |
5.16e-5 |
PROSPERO |
|
Pfam:pKID
|
113 |
153 |
7.7e-24 |
PFAM |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
184 |
260 |
5.16e-5 |
PROSPERO |
|
BRLZ
|
281 |
339 |
1.25e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087366
AA Change: I240V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958
AA Change: I240V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
90 |
1.46e-5 |
PROSPERO |
|
Pfam:pKID
|
99 |
141 |
5.3e-24 |
PFAM |
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
170 |
247 |
1.46e-5 |
PROSPERO |
|
BRLZ
|
267 |
325 |
1.25e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171164
AA Change: I200V
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958
AA Change: I200V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
59 |
101 |
9e-24 |
PFAM |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
BRLZ
|
227 |
285 |
1.25e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185594
AA Change: I240V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958
AA Change: I240V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
90 |
1.46e-5 |
PROSPERO |
|
Pfam:pKID
|
99 |
141 |
5.3e-24 |
PFAM |
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
170 |
247 |
1.46e-5 |
PROSPERO |
|
BRLZ
|
267 |
325 |
1.25e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186335
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187811
AA Change: I240V
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958
AA Change: I240V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
99 |
141 |
3.8e-21 |
PFAM |
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190348
AA Change: I254V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958
AA Change: I254V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
89 |
5.16e-5 |
PROSPERO |
|
Pfam:pKID
|
113 |
155 |
1.2e-23 |
PFAM |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
184 |
260 |
5.16e-5 |
PROSPERO |
|
BRLZ
|
281 |
339 |
1.25e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190876
|
| Meta Mutation Damage Score |
0.2119 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
96% (52/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for alleles lacking some or all isotypes exhibit a range of defects involving circadian rhythms, axonal growth, sensory neuron survival, long-term memory, fear conditioning, body size, respiration, and neonatal viability. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(85) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(76)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,096,109 (GRCm39) |
M392L |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,957,274 (GRCm39) |
|
probably null |
Het |
| Clec2g |
T |
A |
6: 128,925,716 (GRCm39) |
S42T |
probably benign |
Het |
| D2hgdh |
G |
T |
1: 93,763,009 (GRCm39) |
V265L |
possibly damaging |
Het |
| Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
| Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
| Fam168a |
C |
T |
7: 100,484,618 (GRCm39) |
A252V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,202,256 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,713,509 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
A |
T |
1: 173,314,413 (GRCm39) |
V9D |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
| Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,566,356 (GRCm39) |
S2122P |
unknown |
Het |
| Mei4 |
C |
T |
9: 81,907,635 (GRCm39) |
Q223* |
probably null |
Het |
| Mpzl3 |
T |
C |
9: 44,979,550 (GRCm39) |
V167A |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,167,624 (GRCm39) |
T1070A |
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,986,688 (GRCm39) |
|
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,887 (GRCm39) |
V58D |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,188 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ostm1 |
A |
C |
10: 42,568,952 (GRCm39) |
D37A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,544,368 (GRCm39) |
S1786N |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,893,116 (GRCm39) |
V443A |
possibly damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,756 (GRCm39) |
|
probably null |
Het |
| Ptger1 |
A |
T |
8: 84,394,948 (GRCm39) |
T142S |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,846,620 (GRCm39) |
N507K |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 119,997,328 (GRCm39) |
V722E |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
| Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
| Vmn1r208 |
A |
T |
13: 22,956,595 (GRCm39) |
W301R |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Creb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Creb1
|
APN |
1 |
64,609,284 (GRCm39) |
splice site |
probably benign |
|
|
IGL01991:Creb1
|
APN |
1 |
64,598,913 (GRCm39) |
missense |
probably benign |
|
|
IGL03137:Creb1
|
APN |
1 |
64,615,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03408:Creb1
|
APN |
1 |
64,615,491 (GRCm39) |
splice site |
probably null |
|
|
1mM(1):Creb1
|
UTSW |
1 |
64,613,330 (GRCm39) |
nonsense |
probably null |
|
|
R0028:Creb1
|
UTSW |
1 |
64,609,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0069:Creb1
|
UTSW |
1 |
64,615,367 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0506:Creb1
|
UTSW |
1 |
64,609,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Creb1
|
UTSW |
1 |
64,590,109 (GRCm39) |
nonsense |
probably null |
|
|
R1835:Creb1
|
UTSW |
1 |
64,590,109 (GRCm39) |
nonsense |
probably null |
|
|
R1836:Creb1
|
UTSW |
1 |
64,590,109 (GRCm39) |
nonsense |
probably null |
|
|
R7254:Creb1
|
UTSW |
1 |
64,615,436 (GRCm39) |
nonsense |
probably null |
|
|
R7716:Creb1
|
UTSW |
1 |
64,605,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7934:Creb1
|
UTSW |
1 |
64,609,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8275:Creb1
|
UTSW |
1 |
64,597,687 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9005:Creb1
|
UTSW |
1 |
64,605,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9431:Creb1
|
UTSW |
1 |
64,615,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Creb1
|
UTSW |
1 |
64,598,909 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGATAGAGTCCCATTCCCTGTTTCCC -3'
(R):5'- GTAAAGAAAGCCCCTGCCCCTAAG -3'
Sequencing Primer
(F):5'- ATTCCCTGTTTCCCTTTTAATCTAAG -3'
(R):5'- GACTGACCTAAAGTTCCATTAGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation