Mutagenetix > Incidental Mutation

Incidental Mutation 'R9294:Ctbp2'

704464

Institutional Source

Beutler Lab

Gene Symbol

Ctbp2

Ensembl Gene

ENSMUSG00000030970

Gene Name

C-terminal binding protein 2

Synonyms

D7Ertd45e, Gtrgeo6, Ribeye

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9294 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132987563-133124354 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133014232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 325 (S325P)

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: S325P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: S325P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	G	18: 38,261,076	L442R	probably damaging	Het
1700067K01Rik	A	G	8: 84,003,379	Y165C	probably damaging	Het
2410089E03Rik	T	C	15: 8,203,327	V1110A	probably benign	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4930452B06Rik	A	G	14: 8,578,361	I127T	possibly damaging	Het
Abcb11	T	A	2: 69,265,496	K833N	possibly damaging	Het
Abcb1a	T	A	5: 8,686,171	M188K	probably benign	Het
Akap1	A	T	11: 88,837,140	V672D	probably damaging	Het
Anapc4	A	G	5: 52,864,525	T650A	possibly damaging	Het
Ash1l	C	A	3: 88,982,990	S725R	possibly damaging	Het
Axdnd1	T	A	1: 156,420,347	K28*	probably null	Het
C8b	C	A	4: 104,786,995	H286Q	probably benign	Het
Cacna2d1	A	G	5: 16,012,398	K34E	probably damaging	Het
Ccdc14	T	A	16: 34,697,358	H154Q	probably damaging	Het
Ccdc184	A	G	15: 98,168,512	D66G	probably damaging	Het
Ccdc62	A	G	5: 123,954,709	I586V	possibly damaging	Het
Chadl	A	T	15: 81,694,490	C313S	probably damaging	Het
Clec14a	C	A	12: 58,268,750	A29S	probably damaging	Het
Col26a1	C	T	5: 136,757,754	G161D	probably benign	Het
Dcaf13	A	G	15: 39,130,292	D260G	possibly damaging	Het
Dhx37	G	A	5: 125,422,672	P575L	probably benign	Het
Dnajc6	T	C	4: 101,550,857		probably null	Het
Eapp	T	C	12: 54,690,276	T145A	unknown	Het
Efcab5	A	G	11: 77,121,238	M730T	probably benign	Het
Eif4g3	T	A	4: 138,190,657	D1305E	probably damaging	Het
Endou	A	T	15: 97,712,065	V450E	probably benign	Het
F10	A	T	8: 13,048,177	K127*	probably null	Het
Fbxw21	A	G	9: 109,143,762	F368S	probably damaging	Het
Fezf1	A	T	6: 23,245,798	L456Q	possibly damaging	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Fyco1	A	C	9: 123,794,813	C1384G	probably damaging	Het
Galnt6	G	T	15: 100,704,151	S258R	possibly damaging	Het
Gemin5	A	G	11: 58,137,748	V882A	probably benign	Het
Gm10750	A	G	2: 149,016,187	L48P	unknown	Het
Gm11639	A	G	11: 104,831,300	I1913V	probably benign	Het
Gm16503	T	A	4: 147,541,114	F22I	unknown	Het
Hdac10	A	G	15: 89,126,277	C281R	probably damaging	Het
Hikeshi	T	C	7: 89,935,760	S79G	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901		probably null	Het
Itpr3	A	G	17: 27,111,217	E1603G	probably damaging	Het
Lrrc37a	A	T	11: 103,504,533	V22E	probably benign	Het
Man1a	C	T	10: 53,933,491		probably null	Het
Mdga1	A	G	17: 29,839,897	L5P	probably damaging	Het
Mettl7a1	A	G	15: 100,313,133	E213G	probably damaging	Het
Mup6	A	G	4: 60,004,838	I76M	probably benign	Het
Nbea	A	T	3: 56,091,092	M98K	probably benign	Het
Nckap1l	A	G	15: 103,473,539	E454G	probably damaging	Het
Notch3	A	T	17: 32,143,691	L1320Q	probably benign	Het
Nrn1	A	T	13: 36,726,674	L128H	probably damaging	Het
Numa1	T	C	7: 101,995,416	S200P	possibly damaging	Het
Numa1	A	G	7: 102,012,796	D1898G	probably damaging	Het
Olfr1124	G	A	2: 87,434,666	A60T	probably benign	Het
Olfr152	A	C	2: 87,782,523		probably null	Het
Olfr366	T	C	2: 37,220,110	I207T	possibly damaging	Het
Olfr700	A	T	7: 106,806,398	S21R	possibly damaging	Het
P2ry6	A	T	7: 100,938,926	Y75*	probably null	Het
Pbrm1	T	A	14: 31,084,803	C1062*	probably null	Het
Pcdh15	A	G	10: 74,643,728	E557G	unknown	Het
Pcdh7	T	C	5: 57,721,335	L744P	probably benign	Het
Plekhg3	A	T	12: 76,562,278	I142L	possibly damaging	Het
Plk4	C	T	3: 40,811,891	H695Y	probably damaging	Het
Pms1	T	C	1: 53,208,057	H243R	probably benign	Het
Prdm14	T	C	1: 13,122,483	D344G	possibly damaging	Het
R3hdml	A	G	2: 163,502,332	I214V	probably benign	Het
Rab11fip5	T	C	6: 85,348,710	N238S	probably benign	Het
Sacs	T	A	14: 61,240,319	Y732N	possibly damaging	Het
Scfd1	T	A	12: 51,393,866	M187K	possibly damaging	Het
Serpina1d	A	G	12: 103,767,998	C16R	probably damaging	Het
Slc2a12	T	C	10: 22,665,095	I283T	possibly damaging	Het
Smarca5	A	G	8: 80,719,803	Y423H	probably damaging	Het
Srrm3	C	A	5: 135,868,261	A366E	unknown	Het
St7	A	T	6: 17,844,914	K134*	probably null	Het
St8sia5	T	G	18: 77,254,829	C412G	probably damaging	Het
Tanc2	A	T	11: 105,886,458	I821F	probably damaging	Het
Tbrg4	A	G	11: 6,624,204	M6T	probably benign	Het
Tcf20	A	T	15: 82,852,696	I1518N	probably benign	Het
Tctn3	A	G	19: 40,607,276	V355A	probably benign	Het
Tenm2	A	T	11: 36,024,500	F2070Y	probably damaging	Het
Tex2	A	G	11: 106,568,535	V23A	probably damaging	Het
Thrsp	C	G	7: 97,417,074	E144Q	probably damaging	Het
Top2a	A	C	11: 99,001,078	S1114A	probably benign	Het
Tpm1	A	G	9: 67,029,716	Y267H	probably benign	Het
Txndc2	G	T	17: 65,639,024	P53T	unknown	Het
Ugt2b36	A	T	5: 87,081,017	I389N	probably damaging	Het
Virma	C	T	4: 11,513,507	R454*	probably null	Het
Vwa3b	T	A	1: 37,035,801	H16Q	probably damaging	Het
Zbp1	A	G	2: 173,210,643	M240T	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
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
Z1176:Ctbp2	UTSW	7	133015290	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTCTGCAAAGGTCCAGCAG -3'
(R):5'- CTGGCTTATGAGAATTACGAAGC -3'

Sequencing Primer
(F):5'- AAACTGCAGGGCTGTGGTACC -3'
(R):5'- GAAGCTGACTTGTCTACATTCCAAGG -3'

Posted On

2022-03-25