Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Ctbp2'

735384

Institutional Source

Beutler Lab

Gene Symbol

Ctbp2

Ensembl Gene

ENSMUSG00000030970

Gene Name

C-terminal binding protein 2

Synonyms

D7Ertd45e, Gtrgeo6, Ribeye

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132987563-133124354 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 133014204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 334 (R334P)

Ref Sequence

ENSEMBL: ENSMUSP00000130294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000124096] [ENSMUST00000163601] [ENSMUST00000165457] [ENSMUST00000166439] [ENSMUST00000167218] [ENSMUST00000168958] [ENSMUST00000169570] [ENSMUST00000170459] [ENSMUST00000172341]

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

probably benign
Transcript: ENSMUST00000165457

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: 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 damaging
Transcript: ENSMUST00000169570
AA Change: R334P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: R334P

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,743,361	T395M	probably damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Atr	T	A	9: 95,874,834	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,254,497	F86L	probably damaging	Het
Bmp1	T	C	14: 70,477,920	D925G	probably damaging	Het
C77080	T	C	4: 129,224,169	E279G	possibly damaging	Het
Camkmt	A	T	17: 85,452,285	R284S	probably benign	Het
Cavin3	G	T	7: 105,482,097	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,735,330	H180R		Het
Cdh23	A	T	10: 60,331,356	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chpt1	T	C	10: 88,489,637	N122S	probably benign	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Eif3i	G	T	4: 129,595,301	F121L	probably benign	Het
Erbb2	T	C	11: 98,435,986	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbn2	A	G	18: 58,013,650		probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Gm2a	T	C	11: 55,108,938	V95A	probably benign	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gramd4	G	A	15: 86,131,959	E504K	probably damaging	Het
Gusb	A	G	5: 129,997,811	S450P	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Katnbl1	T	A	2: 112,409,152	V232D	probably damaging	Het
Kifap3	T	C	1: 163,862,088	L547P	probably damaging	Het
Krt6a	C	T	15: 101,690,685	V482M	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Mical2	G	T	7: 112,346,789	R986L	probably damaging	Het
Mroh8	G	A	2: 157,253,050	Q339*	probably null	Het
Msln	A	T	17: 25,749,068	V541E	probably damaging	Het
Muc16	T	A	9: 18,586,882	M6590L	probably benign	Het
Nisch	A	T	14: 31,171,671	V1315E	probably damaging	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1089	A	T	2: 86,733,292	F107I	probably damaging	Het
Olfr13	A	G	6: 43,174,057	M24V	probably benign	Het
Olfr57	T	C	10: 79,035,396	I200T	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr820	T	C	10: 130,017,940	I193T	possibly damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
P3h4	A	T	11: 100,413,673	C247*	probably null	Het
Palm2	G	A	4: 57,710,125	A357T	possibly damaging	Het
Plch2	T	A	4: 154,998,485	M569L	probably benign	Het
Plcl1	A	G	1: 55,696,291	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,927,563	N178K	probably benign	Het
Rasa4	T	C	5: 136,101,640	L340P	probably damaging	Het
Rassf10	A	G	7: 112,955,577	T462A	probably benign	Het
Rlf	G	C	4: 121,150,668	L482V	probably damaging	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,032,265	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,804,702	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,249,185	Q765R	probably damaging	Het
Senp6	T	A	9: 80,113,946	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,883,532	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,648,632		probably null	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Ssb	C	A	2: 69,870,440	A288E	probably damaging	Het
Syne2	A	G	12: 76,054,846	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,626,200	S43P	probably benign	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,174	R657*	probably null	Het
Traf6	T	C	2: 101,688,582	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,884,556	N424K	possibly damaging	Het
Ubqln3	T	C	7: 104,142,755	I43V	probably damaging	Het
Usp32	A	G	11: 85,030,491	V699A	probably damaging	Het
Vmn2r103	T	C	17: 19,793,765	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,803,241	S113P	probably benign	Het
Wdr7	T	A	18: 63,727,755	I161N	probably damaging	Het
Zfp474	A	T	18: 52,638,943	I223F	probably damaging	Het
Zfp583	A	G	7: 6,317,329	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,177,417	T76A	possibly damaging	Het

Other mutations in Ctbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02143:Ctbp2	APN	7	132991156	missense	probably damaging	0.98
IGL02615:Ctbp2	APN	7	132995347	missense	probably benign	0.34
IGL02626:Ctbp2	APN	7	132999211	missense	probably benign	0.12
PIT4802001:Ctbp2	UTSW	7	132988245	missense	possibly damaging	0.77
R0068:Ctbp2	UTSW	7	132990059	missense	possibly damaging	0.95
R0374:Ctbp2	UTSW	7	132999344	missense	possibly damaging	0.89
R0566:Ctbp2	UTSW	7	132991147	missense	probably damaging	1.00
R0571:Ctbp2	UTSW	7	133014805	missense	probably damaging	1.00
R1247:Ctbp2	UTSW	7	132995189	missense	probably benign	0.24
R1292:Ctbp2	UTSW	7	133015189	missense	probably damaging	1.00
R1477:Ctbp2	UTSW	7	132998941	missense	probably damaging	1.00
R1732:Ctbp2	UTSW	7	132998924	missense	possibly damaging	0.80
R1807:Ctbp2	UTSW	7	133014408	missense	probably benign	0.00
R1865:Ctbp2	UTSW	7	132990554	missense	probably benign	0.02
R1951:Ctbp2	UTSW	7	133015027	missense	probably benign
R2393:Ctbp2	UTSW	7	133023561	critical splice donor site	probably null
R2410:Ctbp2	UTSW	7	133014354	missense	probably benign	0.08
R3427:Ctbp2	UTSW	7	132991592	missense	probably damaging	1.00
R4004:Ctbp2	UTSW	7	132991773	missense	probably benign	0.31
R4243:Ctbp2	UTSW	7	132998854	missense	probably benign	0.43
R4754:Ctbp2	UTSW	7	133023558	splice site	probably null
R4820:Ctbp2	UTSW	7	133013694	missense	probably damaging	0.98
R4947:Ctbp2	UTSW	7	132999283	missense	probably damaging	1.00
R4960:Ctbp2	UTSW	7	133014238	missense	probably benign	0.00
R4999:Ctbp2	UTSW	7	133014649	missense	possibly damaging	0.62
R5340:Ctbp2	UTSW	7	133013963	missense	probably benign	0.43
R5593:Ctbp2	UTSW	7	132998869	missense	possibly damaging	0.95
R5762:Ctbp2	UTSW	7	132995359	missense	probably damaging	1.00
R6913:Ctbp2	UTSW	7	133014726	missense	possibly damaging	0.94
R7044:Ctbp2	UTSW	7	133015102	missense	possibly damaging	0.71
R7342:Ctbp2	UTSW	7	133014312	missense	probably damaging	0.99
R7358:Ctbp2	UTSW	7	132998881	missense	probably damaging	1.00
R7376:Ctbp2	UTSW	7	133013968	missense	possibly damaging	0.93
R7393:Ctbp2	UTSW	7	132988292	missense	probably benign	0.17
R7678:Ctbp2	UTSW	7	133014624	missense	probably benign
R7709:Ctbp2	UTSW	7	132990060	missense	probably benign
R7900:Ctbp2	UTSW	7	133014599	missense	probably benign
R8018:Ctbp2	UTSW	7	133014366	missense	probably benign	0.38
R9185:Ctbp2	UTSW	7	133013983	missense	probably damaging	0.97
R9258:Ctbp2	UTSW	7	132995292	missense	probably damaging	1.00
R9294:Ctbp2	UTSW	7	133014232	missense	probably damaging	0.96
R9326:Ctbp2	UTSW	7	133014630	missense	probably benign
R9385:Ctbp2	UTSW	7	132999340	missense	probably benign	0.14
R9576:Ctbp2	UTSW	7	133014469	missense	probably benign	0.00
R9653:Ctbp2	UTSW	7	133014204	missense	probably damaging	1.00
Z1176:Ctbp2	UTSW	7	133015290	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGGGTGTCTGCAAAGGTC -3'
(R):5'- TGAGAATTACGAAGCTGACTTGTC -3'

Sequencing Primer
(F):5'- TGTCTGCAAAGGTCCAGCAG -3'
(R):5'- TGTCTACATTCCAAGGACCTGGG -3'

Posted On

2022-11-14