Incidental Mutation 'R2393:Ctbp2'
| ID |
247865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctbp2
|
| Ensembl Gene |
ENSMUSG00000030970 |
| Gene Name |
C-terminal binding protein 2 |
| Synonyms |
Ribeye, D7Ertd45e, Gtrgeo6 |
| MMRRC Submission |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132589292-132726083 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 132625290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033269]
[ENSMUST00000124096]
[ENSMUST00000155996]
[ENSMUST00000163601]
[ENSMUST00000168958]
[ENSMUST00000166439]
[ENSMUST00000171968]
[ENSMUST00000170459]
[ENSMUST00000172341]
[ENSMUST00000167218]
[ENSMUST00000171022]
[ENSMUST00000171882]
|
| AlphaFold |
P56546 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033269
|
| SMART Domains |
Protein: ENSMUSP00000033269
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
36 |
358 |
2.9e-31 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
139 |
323 |
1.7e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164739
|
| SMART Domains |
Protein: ENSMUSP00000130157
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164896
|
| SMART Domains |
Protein: ENSMUSP00000129195
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165534
|
| SMART Domains |
Protein: ENSMUSP00000132311
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168958
|
| SMART Domains |
Protein: ENSMUSP00000132892
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
164 |
6.3e-27 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
122 |
188 |
8.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171727
|
| SMART Domains |
Protein: ENSMUSP00000127123
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166400
|
| SMART Domains |
Protein: ENSMUSP00000131868
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166439
|
| SMART Domains |
Protein: ENSMUSP00000127448
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
11 |
333 |
2.4e-31 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
114 |
298 |
1.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172341
|
| SMART Domains |
Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
36 |
177 |
5.6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171882
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
probably benign |
Het |
|
| Other mutations in Ctbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02143:Ctbp2
|
APN |
7 |
132,592,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02615:Ctbp2
|
APN |
7 |
132,597,076 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02626:Ctbp2
|
APN |
7 |
132,600,940 (GRCm39) |
missense |
probably benign |
0.12 |
|
PIT4802001:Ctbp2
|
UTSW |
7 |
132,589,974 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0068:Ctbp2
|
UTSW |
7 |
132,591,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0374:Ctbp2
|
UTSW |
7 |
132,601,073 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0566:Ctbp2
|
UTSW |
7 |
132,592,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Ctbp2
|
UTSW |
7 |
132,616,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1247:Ctbp2
|
UTSW |
7 |
132,596,918 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1292:Ctbp2
|
UTSW |
7 |
132,616,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Ctbp2
|
UTSW |
7 |
132,600,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Ctbp2
|
UTSW |
7 |
132,600,653 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1807:Ctbp2
|
UTSW |
7 |
132,616,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1865:Ctbp2
|
UTSW |
7 |
132,592,283 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1951:Ctbp2
|
UTSW |
7 |
132,616,756 (GRCm39) |
missense |
probably benign |
|
|
R2410:Ctbp2
|
UTSW |
7 |
132,616,083 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3427:Ctbp2
|
UTSW |
7 |
132,593,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4004:Ctbp2
|
UTSW |
7 |
132,593,502 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4243:Ctbp2
|
UTSW |
7 |
132,600,583 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4754:Ctbp2
|
UTSW |
7 |
132,625,287 (GRCm39) |
splice site |
probably null |
|
|
R4820:Ctbp2
|
UTSW |
7 |
132,615,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4947:Ctbp2
|
UTSW |
7 |
132,601,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Ctbp2
|
UTSW |
7 |
132,615,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4999:Ctbp2
|
UTSW |
7 |
132,616,378 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5340:Ctbp2
|
UTSW |
7 |
132,615,692 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5593:Ctbp2
|
UTSW |
7 |
132,600,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5762:Ctbp2
|
UTSW |
7 |
132,597,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Ctbp2
|
UTSW |
7 |
132,616,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7044:Ctbp2
|
UTSW |
7 |
132,616,831 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7342:Ctbp2
|
UTSW |
7 |
132,616,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7358:Ctbp2
|
UTSW |
7 |
132,600,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Ctbp2
|
UTSW |
7 |
132,615,697 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7393:Ctbp2
|
UTSW |
7 |
132,590,021 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7678:Ctbp2
|
UTSW |
7 |
132,616,353 (GRCm39) |
missense |
probably benign |
|
|
R7709:Ctbp2
|
UTSW |
7 |
132,591,789 (GRCm39) |
missense |
probably benign |
|
|
R7900:Ctbp2
|
UTSW |
7 |
132,616,328 (GRCm39) |
missense |
probably benign |
|
|
R8018:Ctbp2
|
UTSW |
7 |
132,616,095 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9185:Ctbp2
|
UTSW |
7 |
132,615,712 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9258:Ctbp2
|
UTSW |
7 |
132,597,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Ctbp2
|
UTSW |
7 |
132,615,961 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9326:Ctbp2
|
UTSW |
7 |
132,616,359 (GRCm39) |
missense |
probably benign |
|
|
R9385:Ctbp2
|
UTSW |
7 |
132,601,069 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9576:Ctbp2
|
UTSW |
7 |
132,616,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9652:Ctbp2
|
UTSW |
7 |
132,615,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Ctbp2
|
UTSW |
7 |
132,615,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ctbp2
|
UTSW |
7 |
132,617,019 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-11-11 |
Incidental Mutation