Incidental Mutation 'R1951:Ctbp2'
ID |
217298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctbp2
|
Ensembl Gene |
ENSMUSG00000030970 |
Gene Name |
C-terminal binding protein 2 |
Synonyms |
Ribeye, D7Ertd45e, Gtrgeo6 |
MMRRC Submission |
039965-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
132589292-132726083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132616756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 60
(S60P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130294
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033269]
[ENSMUST00000124096]
[ENSMUST00000163601]
[ENSMUST00000165457]
[ENSMUST00000169570]
[ENSMUST00000166439]
[ENSMUST00000167218]
[ENSMUST00000172341]
[ENSMUST00000168958]
[ENSMUST00000170459]
|
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: 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 |
probably benign
Transcript: ENSMUST00000165457
AA Change: S60P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169570
AA Change: S60P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130294 Gene: ENSMUSG00000030970 AA Change: S60P
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 |
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 |
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: ENSMUST00000165534
|
SMART Domains |
Protein: ENSMUSP00000132311 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: ENSMUST00000167218
|
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: 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 |
probably benign
Transcript: ENSMUST00000170459
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
98% (84/86) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,258,624 (GRCm39) |
F847S |
probably benign |
Het |
Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
Arhgap28 |
G |
A |
17: 68,208,336 (GRCm39) |
A44V |
probably benign |
Het |
Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
Baz1b |
T |
A |
5: 135,245,593 (GRCm39) |
N347K |
probably benign |
Het |
Best2 |
T |
A |
8: 85,737,858 (GRCm39) |
N179I |
possibly damaging |
Het |
Bfar |
C |
T |
16: 13,519,970 (GRCm39) |
S276L |
probably damaging |
Het |
Bloc1s3 |
A |
G |
7: 19,241,483 (GRCm39) |
V15A |
possibly damaging |
Het |
Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
Calhm3 |
A |
G |
19: 47,140,256 (GRCm39) |
L279P |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,043,925 (GRCm39) |
|
probably benign |
Het |
Car15 |
T |
C |
16: 17,655,269 (GRCm39) |
D57G |
possibly damaging |
Het |
Casp12 |
G |
A |
9: 5,348,959 (GRCm39) |
|
probably null |
Het |
Cd93 |
T |
C |
2: 148,283,778 (GRCm39) |
T523A |
probably benign |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Ckap5 |
A |
G |
2: 91,386,837 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
G |
A |
9: 105,814,156 (GRCm39) |
R619W |
unknown |
Het |
Colec12 |
G |
A |
18: 9,859,975 (GRCm39) |
|
probably null |
Het |
Crmp1 |
G |
A |
5: 37,430,699 (GRCm39) |
V222I |
possibly damaging |
Het |
Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
Dhx36 |
T |
C |
3: 62,391,694 (GRCm39) |
I551V |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,206,537 (GRCm39) |
|
probably benign |
Het |
Dlgap1 |
A |
T |
17: 71,068,306 (GRCm39) |
I300F |
probably damaging |
Het |
Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,061,704 (GRCm39) |
R2794* |
probably null |
Het |
Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
Fgl1 |
G |
T |
8: 41,650,387 (GRCm39) |
F187L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,860,242 (GRCm39) |
V2096E |
probably benign |
Het |
Gm10647 |
A |
G |
9: 66,705,762 (GRCm39) |
|
probably benign |
Het |
Gm14226 |
G |
A |
2: 154,866,255 (GRCm39) |
D71N |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,760,829 (GRCm39) |
I284N |
probably damaging |
Het |
Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
Ift70b |
A |
G |
2: 75,767,586 (GRCm39) |
L389P |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,929,317 (GRCm39) |
D1078G |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,010,519 (GRCm39) |
V123A |
possibly damaging |
Het |
Klhl13 |
A |
G |
X: 23,127,820 (GRCm39) |
|
probably benign |
Het |
Klhl42 |
T |
C |
6: 146,993,321 (GRCm39) |
S98P |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,670,298 (GRCm39) |
N602S |
possibly damaging |
Het |
Lrrd1 |
A |
T |
5: 3,901,488 (GRCm39) |
I598F |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,458,372 (GRCm39) |
T318A |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,748,517 (GRCm39) |
F116S |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,456,492 (GRCm39) |
I486V |
probably benign |
Het |
Nptx1 |
A |
G |
11: 119,434,006 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
C |
8: 32,408,221 (GRCm39) |
Y4C |
probably damaging |
Het |
Nsf |
G |
A |
11: 103,773,702 (GRCm39) |
R271* |
probably null |
Het |
Or5d39 |
A |
G |
2: 87,979,641 (GRCm39) |
S241P |
possibly damaging |
Het |
Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
Or8k18 |
G |
C |
2: 86,085,440 (GRCm39) |
T199S |
probably benign |
Het |
Or8k21 |
T |
A |
2: 86,145,504 (GRCm39) |
N42I |
probably damaging |
Het |
Or8k24 |
A |
T |
2: 86,215,855 (GRCm39) |
H302Q |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,780,813 (GRCm39) |
Y212H |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,946,954 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
G |
T |
11: 71,965,450 (GRCm39) |
H112N |
possibly damaging |
Het |
Ppargc1b |
G |
T |
18: 61,431,848 (GRCm39) |
T1000K |
possibly damaging |
Het |
Psd3 |
C |
A |
8: 68,416,139 (GRCm39) |
C586F |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
Rabep2 |
A |
T |
7: 126,037,736 (GRCm39) |
R169S |
possibly damaging |
Het |
Rad21l |
T |
C |
2: 151,497,179 (GRCm39) |
R309G |
probably benign |
Het |
Rbm12 |
T |
C |
2: 155,939,133 (GRCm39) |
R380G |
probably damaging |
Het |
Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
Slc12a2 |
A |
G |
18: 58,012,467 (GRCm39) |
T197A |
possibly damaging |
Het |
Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,065,868 (GRCm39) |
E2026G |
possibly damaging |
Het |
Srf |
A |
T |
17: 46,862,633 (GRCm39) |
M285K |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,622,156 (GRCm39) |
V425A |
possibly damaging |
Het |
Tle4 |
A |
T |
19: 14,493,721 (GRCm39) |
|
probably null |
Het |
Tmem132e |
A |
G |
11: 82,335,908 (GRCm39) |
R905G |
possibly damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,983 (GRCm39) |
I189F |
probably damaging |
Het |
Trappc13 |
T |
C |
13: 104,311,150 (GRCm39) |
Q87R |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,673,219 (GRCm39) |
D511E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,632,634 (GRCm39) |
I14140N |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,513,907 (GRCm39) |
D587G |
probably benign |
Het |
Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
Vmn2r68 |
A |
G |
7: 84,883,102 (GRCm39) |
F217L |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,881,041 (GRCm39) |
|
probably null |
Het |
Vrtn |
T |
C |
12: 84,695,973 (GRCm39) |
V241A |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
probably 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 |
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 |
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 |
PCR Primer
(F):5'- ATAGAAGGGAGGCTCCTTGG -3'
(R):5'- AAAGAAAGGCTTCCTCCCTGC -3'
Sequencing Primer
(F):5'- AGGGAGGCTCCTTGGGTACC -3'
(R):5'- GTAGTCATTTGCTCTGCCAATG -3'
|
Posted On |
2014-08-01 |