Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Ctbp1'

424707

Institutional Source

Beutler Lab

Gene Symbol

Ctbp1

Ensembl Gene

ENSMUSG00000037373

Gene Name

C-terminal binding protein 1

Synonyms

CtBP1-L, D4S115h, D5H4S115E, CtBP1-S, BARS, CtBP3/BARS, D5H4S115

MMRRC Submission

042956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5381 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

33405067-33432338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33407034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 232 (D232E)

Ref Sequence

ENSEMBL: ENSMUSP00000144554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079746] [ENSMUST00000201275] [ENSMUST00000201372] [ENSMUST00000201575] [ENSMUST00000202868] [ENSMUST00000202962]

AlphaFold

O88712

Predicted Effect

probably benign
Transcript: ENSMUST00000079746
AA Change: D306E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
AA Change: D306E

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	30	352	3.3e-31	PFAM
Pfam:2-Hacid_dh_C	133	317	8.5e-58	PFAM
Pfam:NAD_binding_2	174	291	9e-7	PFAM
low complexity region	413	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201275

SMART Domains

Protein: ENSMUSP00000144029
Gene: ENSMUSG00000037373

Domain	Start	End	E-Value	Type
PDB:2HU2\|A	1	54	5e-33	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000201372

SMART Domains

Protein: ENSMUSP00000143877
Gene: ENSMUSG00000037373

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	1	102	2.2e-17	PFAM
Pfam:2-Hacid_dh_C	59	180	3.7e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201514

Predicted Effect

probably benign
Transcript: ENSMUST00000201575
AA Change: D232E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144554
Gene: ENSMUSG00000037373
AA Change: D232E

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	1	278	6.7e-22	PFAM
Pfam:2-Hacid_dh_C	59	243	6.4e-56	PFAM
Pfam:NAD_binding_2	100	217	2.5e-5	PFAM
low complexity region	339	350	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202135

Predicted Effect

probably benign
Transcript: ENSMUST00000202868
AA Change: D295E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
AA Change: D295E

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	19	341	3.5e-31	PFAM
Pfam:2-Hacid_dh_C	122	306	8.6e-58	PFAM
Pfam:NAD_binding_2	163	280	3.8e-7	PFAM
low complexity region	401	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202962

SMART Domains

Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	19	269	3.3e-24	PFAM
Pfam:2-Hacid_dh_C	122	303	4.1e-51	PFAM
Pfam:NAD_binding_2	163	280	2.1e-5	PFAM
low complexity region	310	327	N/A	INTRINSIC

Meta Mutation Damage Score

0.0822

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial postnatal lethality and decreased body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	G	T	11: 65,044,137 (GRCm39)	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,262,393 (GRCm39)		noncoding transcript	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,804,284 (GRCm39)	T900A	probably benign	Het
Anp32a	A	C	9: 62,279,459 (GRCm39)	E107A	probably damaging	Het
Arhgef40	T	C	14: 52,229,306 (GRCm39)	I623T	probably damaging	Het
Camsap3	T	A	8: 3,653,812 (GRCm39)	I483N	probably damaging	Het
Card9	G	A	2: 26,248,895 (GRCm39)	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,365,849 (GRCm39)	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,852,701 (GRCm39)	L422*	probably null	Het
Ccdc198	T	C	14: 49,470,364 (GRCm39)	D185G	probably damaging	Het
Ccdc73	A	T	2: 104,820,270 (GRCm39)	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,310,073 (GRCm39)	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,791,647 (GRCm39)	N317K	probably benign	Het
Col6a3	T	C	1: 90,703,334 (GRCm39)	R2471G	unknown	Het
Crocc	C	T	4: 140,756,622 (GRCm39)	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,604,611 (GRCm39)	Y1955F	probably benign	Het
Cuedc1	T	A	11: 88,078,812 (GRCm39)		probably null	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dusp6	G	A	10: 99,102,129 (GRCm39)	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,192,516 (GRCm39)	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,032,593 (GRCm39)	T70A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Il12b	C	A	11: 44,298,699 (GRCm39)	D51E	possibly damaging	Het
Il9r	T	G	11: 32,140,715 (GRCm39)	D435A	probably benign	Het
Jakmip2	T	C	18: 43,715,025 (GRCm39)	D167G	probably damaging	Het
Klrd1	A	G	6: 129,572,397 (GRCm39)	D63G	possibly damaging	Het
Lactb	A	G	9: 66,863,297 (GRCm39)	L439P	probably damaging	Het
Laptm5	T	C	4: 130,660,969 (GRCm39)		probably benign	Het
Lgals1	A	G	15: 78,814,223 (GRCm39)	D96G	probably benign	Het
Lrp8	A	T	4: 107,726,307 (GRCm39)	H871L	probably damaging	Het
Mfap4	A	T	11: 61,378,756 (GRCm39)	I235F	probably benign	Het
Muc6	G	A	7: 141,217,836 (GRCm39)	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,449,172 (GRCm39)	Y91*	probably null	Het
Osbp2	A	G	11: 3,655,593 (GRCm39)	Y383H	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Palb2	G	T	7: 121,727,636 (GRCm39)	T78K	probably benign	Het
Panx2	G	T	15: 88,944,433 (GRCm39)	V53L	probably damaging	Het
Pip4p1	T	C	14: 51,166,495 (GRCm39)	E161G	probably benign	Het
Pitx1	T	C	13: 55,973,892 (GRCm39)	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,481,904 (GRCm39)		probably null	Het
Pnldc1	T	G	17: 13,109,283 (GRCm39)	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,559,357 (GRCm39)	T513P	probably benign	Het
Pram1	A	T	17: 33,860,600 (GRCm39)	Q389L	probably damaging	Het
Prg4	T	C	1: 150,330,204 (GRCm39)		probably benign	Het
Prkch	C	A	12: 73,738,366 (GRCm39)	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Rad51c	A	T	11: 87,288,459 (GRCm39)	D241E	probably benign	Het
Rara	T	G	11: 98,862,410 (GRCm39)	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,571,544 (GRCm39)	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,522,810 (GRCm39)	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,149,382 (GRCm39)	L736Q	probably damaging	Het
Slco2a1	A	T	9: 102,945,213 (GRCm39)	D196V	probably damaging	Het
Sp3	C	A	2: 72,800,910 (GRCm39)	A368S	probably benign	Het
Stk24	A	T	14: 121,531,645 (GRCm39)	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,027,379 (GRCm39)	T96A	probably benign	Het
Tm2d3	G	A	7: 65,351,420 (GRCm39)	G225S	probably damaging	Het
Urb2	T	C	8: 124,756,651 (GRCm39)	V786A	probably benign	Het
Usp32	C	T	11: 84,949,953 (GRCm39)		probably benign	Het
Usp54	C	T	14: 20,636,144 (GRCm39)	G300D	probably damaging	Het
Vmn1r124	T	A	7: 20,994,323 (GRCm39)	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 11,775,952 (GRCm39)	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,437,219 (GRCm39)	Q422K	probably benign	Het
Vmn2r76	A	G	7: 85,874,496 (GRCm39)	F827S	probably damaging	Het
Vps52	A	G	17: 34,177,275 (GRCm39)	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zic2	A	G	14: 122,713,227 (GRCm39)	N47S	probably damaging	Het

Other mutations in Ctbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Ctbp1	APN	5	33,416,477 (GRCm39)	splice site	probably null
IGL02109:Ctbp1	APN	5	33,424,312 (GRCm39)	missense	probably damaging	0.99
caboose	UTSW	5	33,416,616 (GRCm39)	missense	probably benign	0.39
Coda	UTSW	5	33,416,679 (GRCm39)	missense	probably damaging	1.00
interminable	UTSW	5	33,416,589 (GRCm39)	missense	possibly damaging	0.57
Terminal	UTSW	5	33,408,204 (GRCm39)	nonsense	probably null
R0282:Ctbp1	UTSW	5	33,408,200 (GRCm39)	critical splice donor site	probably null
R1445:Ctbp1	UTSW	5	33,418,407 (GRCm39)	missense	probably benign	0.01
R1988:Ctbp1	UTSW	5	33,408,248 (GRCm39)	missense	possibly damaging	0.93
R2008:Ctbp1	UTSW	5	33,408,330 (GRCm39)	missense	probably damaging	1.00
R3810:Ctbp1	UTSW	5	33,424,389 (GRCm39)	splice site	probably benign
R4175:Ctbp1	UTSW	5	33,424,250 (GRCm39)	missense	probably damaging	1.00
R4461:Ctbp1	UTSW	5	33,408,357 (GRCm39)	missense	probably damaging	1.00
R4494:Ctbp1	UTSW	5	33,408,213 (GRCm39)	missense	possibly damaging	0.67
R6542:Ctbp1	UTSW	5	33,426,915 (GRCm39)	start gained	probably benign
R6764:Ctbp1	UTSW	5	33,416,589 (GRCm39)	missense	possibly damaging	0.57
R6770:Ctbp1	UTSW	5	33,408,204 (GRCm39)	nonsense	probably null
R7354:Ctbp1	UTSW	5	33,407,732 (GRCm39)	missense	possibly damaging	0.86
R7946:Ctbp1	UTSW	5	33,407,688 (GRCm39)	missense	probably benign	0.00
R8951:Ctbp1	UTSW	5	33,416,679 (GRCm39)	missense	probably damaging	1.00
R8962:Ctbp1	UTSW	5	33,416,616 (GRCm39)	missense	probably benign	0.39
R9037:Ctbp1	UTSW	5	33,424,352 (GRCm39)	missense	probably benign
R9192:Ctbp1	UTSW	5	33,408,333 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTACTCAACTTCACCCCAAGG -3'
(R):5'- CCCTTACTGTTAAGACCTTGGGG -3'

Sequencing Primer
(F):5'- GGACTCCCCCACCATAAAAG -3'
(R):5'- GTAGGTTTGCTAGTTCTGCAGTTCC -3'

Posted On

2016-08-04