Incidental Mutation 'R4004:Ctbp2'
| ID |
311393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctbp2
|
| Ensembl Gene |
ENSMUSG00000030970 |
| Gene Name |
C-terminal binding protein 2 |
| Synonyms |
Ribeye, D7Ertd45e, Gtrgeo6 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132589292-132726083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132593502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 733
(R733L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033269]
[ENSMUST00000124096]
[ENSMUST00000165457]
[ENSMUST00000166439]
[ENSMUST00000168958]
[ENSMUST00000169570]
[ENSMUST00000172341]
|
| AlphaFold |
P56546 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033269
AA Change: R190L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000033269
Gene: ENSMUSG00000030970
AA Change: R190L
| 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: ENSMUST00000165457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166439
AA Change: R165L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127448
Gene: ENSMUSG00000030970
AA Change: R165L
| 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: ENSMUST00000168958
AA Change: R173L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132892
Gene: ENSMUSG00000030970
AA Change: R173L
| 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 |
probably benign
Transcript: ENSMUST00000169570
AA Change: R733L
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: R733L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
579 |
901 |
2.8e-31 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
682 |
866 |
5.6e-57 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,750,435 (GRCm39) |
E1735D |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,990,242 (GRCm39) |
R788G |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,163,095 (GRCm39) |
Y335C |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cblif |
T |
G |
19: 11,736,371 (GRCm39) |
V314G |
probably damaging |
Het |
| Ces1d |
A |
T |
8: 93,904,720 (GRCm39) |
F340Y |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,914 (GRCm39) |
Q320R |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,117,404 (GRCm39) |
C62F |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,191,668 (GRCm39) |
V380A |
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,756,213 (GRCm39) |
P751Q |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,724,940 (GRCm39) |
S214P |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,262,888 (GRCm39) |
K50* |
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,652 (GRCm39) |
Y169N |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,434 (GRCm39) |
I408T |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,960 (GRCm39) |
H153L |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,408,152 (GRCm38) |
A308V |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,630,459 (GRCm39) |
Q1512* |
probably null |
Het |
| Ptpn14 |
A |
G |
1: 189,582,707 (GRCm39) |
N518S |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,557,201 (GRCm39) |
R429C |
probably benign |
Het |
| Rpn2 |
T |
C |
2: 157,159,928 (GRCm39) |
L548P |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,786 (GRCm39) |
S580P |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,610 (GRCm39) |
Y496H |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Utp11 |
A |
T |
4: 124,576,230 (GRCm39) |
F138I |
probably damaging |
Het |
| Vcp |
G |
A |
4: 42,983,028 (GRCm39) |
T606I |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,240,874 (GRCm39) |
S382P |
possibly damaging |
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 |
|
|
R2393:Ctbp2
|
UTSW |
7 |
132,625,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
PCR Primer
(F):5'- ACCTGCTTGATAGTGAAGTCATTGATG -3'
(R):5'- GGTACCTGCACTTACACGTAC -3'
Sequencing Primer
(F):5'- ATAGTGAAGTCATTGATGAGGTGATG -3'
(R):5'- TGCACTTACACGTACAAATATAAAGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation