Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Ctbp1'

222813

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

040000-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R1988 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

33405067-33432338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33408248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 228 (L228P)

Ref Sequence

ENSEMBL: ENSMUSP00000144024 (fasta)

Gene Model

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

AlphaFold

O88712

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079746
AA Change: L239P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
AA Change: L239P

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
AA Change: L165P

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143877
Gene: ENSMUSG00000037373
AA Change: L165P

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

possibly damaging
Transcript: ENSMUST00000201575
AA Change: L165P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144554
Gene: ENSMUSG00000037373
AA Change: L165P

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: ENSMUST00000202021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202135

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202868
AA Change: L228P

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
AA Change: L228P

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

possibly damaging
Transcript: ENSMUST00000202962
AA Change: L228P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
AA Change: L228P

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

0.9377

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,276,081 (GRCm39)	R595*	probably null	Het
Adgrl3	A	G	5: 81,836,414 (GRCm39)	D724G	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,621,585 (GRCm39)	I404V	probably benign	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Atoh1	T	C	6: 64,706,617 (GRCm39)	V104A	probably benign	Het
Brwd1	T	C	16: 95,822,437 (GRCm39)	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,512,619 (GRCm39)		probably null	Het
Cd164	A	G	10: 41,399,177 (GRCm39)	T89A	probably benign	Het
Cep350	G	C	1: 155,808,850 (GRCm39)	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cnot1	A	G	8: 96,468,572 (GRCm39)	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,906,204 (GRCm39)	T801A	probably damaging	Het
Cntnap5b	A	C	1: 99,999,865 (GRCm39)	K208Q	possibly damaging	Het
Crx	A	T	7: 15,603,272 (GRCm39)	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,387,321 (GRCm39)	F49S	probably damaging	Het
Ctdp1	A	T	18: 80,492,616 (GRCm39)	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,569 (GRCm39)	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,566,793 (GRCm39)	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,567,182 (GRCm39)	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,069,175 (GRCm39)	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,660,625 (GRCm39)	W138G	probably damaging	Het
Dop1b	T	A	16: 93,563,061 (GRCm39)	I855N	probably damaging	Het
Dsc3	T	A	18: 20,098,903 (GRCm39)	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,061,147 (GRCm39)	R510*	probably null	Het
Fat4	G	T	3: 38,941,264 (GRCm39)	M52I	probably benign	Het
Fat4	G	A	3: 39,050,239 (GRCm39)	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350 (GRCm38)	K279R	probably damaging	Het
Fsip2	G	T	2: 82,806,861 (GRCm39)	W1060L	possibly damaging	Het
G6pc1	T	A	11: 101,258,768 (GRCm39)	I49N	probably damaging	Het
Gars1	A	G	6: 55,054,757 (GRCm39)	E688G	probably null	Het
Gdf11	T	C	10: 128,721,111 (GRCm39)	N361S	probably benign	Het
Gli3	A	C	13: 15,900,965 (GRCm39)	M1451L	probably benign	Het
Heatr3	T	C	8: 88,876,945 (GRCm39)	I329T	probably benign	Het
Herc3	T	G	6: 58,861,960 (GRCm39)		probably null	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Kif7	G	T	7: 79,348,989 (GRCm39)	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,072,887 (GRCm39)	V182A	possibly damaging	Het
Map3k21	T	A	8: 126,654,294 (GRCm39)	I371N	probably benign	Het
Mns1	G	A	9: 72,356,041 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,140 (GRCm39)	T465A	possibly damaging	Het
Nlrc4	A	T	17: 74,733,938 (GRCm39)	S992T	probably benign	Het
Notch4	G	A	17: 34,806,562 (GRCm39)	G1833E	possibly damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or52n2	T	C	7: 104,542,110 (GRCm39)	T242A	probably damaging	Het
Or5g29	G	A	2: 85,420,985 (GRCm39)	V34I	probably benign	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8a1b	A	T	9: 37,622,993 (GRCm39)	I194K	possibly damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,747,660 (GRCm39)	T28S	probably damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,741,530 (GRCm39)	S335P	probably damaging	Het
Prr16	C	T	18: 51,436,349 (GRCm39)	P276L	probably damaging	Het
Rilp	A	G	11: 75,401,759 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,358,682 (GRCm39)		probably null	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,415,118 (GRCm39)	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,800,241 (GRCm39)	N246D	probably damaging	Het
Suco	T	C	1: 161,646,380 (GRCm39)		probably null	Het
Tecpr1	C	T	5: 144,141,515 (GRCm39)	V785M	possibly damaging	Het
Telo2	C	T	17: 25,320,642 (GRCm39)	V756I	probably benign	Het
Tgm1	C	T	14: 55,943,034 (GRCm39)	R602H	probably benign	Het
Timeless	A	G	10: 128,080,056 (GRCm39)	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,416,325 (GRCm39)		probably null	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Trim5	A	G	7: 103,914,828 (GRCm39)	S414P	probably damaging	Het
Txnip	A	G	3: 96,467,066 (GRCm39)	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,454,050 (GRCm39)	T239S	probably damaging	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Zranb3	A	T	1: 127,887,480 (GRCm39)	N982K	probably benign	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
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
R5381:Ctbp1	UTSW	5	33,407,034 (GRCm39)	missense	probably benign	0.00
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'- ACTACTGCTGCTGTCTAGGC -3'
(R):5'- GAGGATGCATGTCTCACTTCCTC -3'

Sequencing Primer
(F):5'- TGCTGCTGTCTAGGCCAGAG -3'
(R):5'- CTTGACTCTGCCAGGTCGTG -3'

Posted On

2014-08-25