Mutagenetix > Incidental Mutation

Incidental Mutation 'R1865:Ctbp2'

208628

Institutional Source

Beutler Lab

Gene Symbol

Ctbp2

Ensembl Gene

ENSMUSG00000030970

Gene Name

C-terminal binding protein 2

Synonyms

Ribeye, D7Ertd45e, Gtrgeo6

MMRRC Submission

039888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1865 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

132589292-132726083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132592283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 849 (A849T)

Ref Sequence

ENSEMBL: ENSMUSP00000130294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000106157] [ENSMUST00000124096] [ENSMUST00000165457] [ENSMUST00000166439] [ENSMUST00000168958] [ENSMUST00000169570] [ENSMUST00000172341]

AlphaFold

P56546

Predicted Effect

probably benign
Transcript: ENSMUST00000033269
AA Change: A306T

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

SMART Domains

Protein: ENSMUSP00000033269
Gene: ENSMUSG00000030970
AA Change: A306T

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: ENSMUST00000106157

SMART Domains

Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967

Domain	Start	End	E-Value	Type
ZnF_RBZ	6	30	9.14e-5	SMART
ZnF_RBZ	86	110	6.56e-6	SMART
ZnF_RBZ	151	175	1.69e-8	SMART
low complexity region	180	195	N/A	INTRINSIC
Pfam:OTU	438	586	1.5e-40	PFAM
low complexity region	698	708	N/A	INTRINSIC

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: ENSMUST00000165457

Predicted Effect

probably benign
Transcript: ENSMUST00000166439
AA Change: A281T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127448
Gene: ENSMUSG00000030970
AA Change: A281T

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: 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: ENSMUST00000169570
AA Change: A849T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: A849T

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: ENSMUST00000172341

SMART Domains

Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	36	177	5.6e-27	PFAM

Meta Mutation Damage Score

0.1066

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,797,094 (GRCm39)		noncoding transcript	Het
Aatk	G	A	11: 119,901,048 (GRCm39)	T1059M	probably benign	Het
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Aqp9	A	C	9: 71,019,658 (GRCm39)	N267K	probably benign	Het
Arap2	A	G	5: 62,855,606 (GRCm39)	V610A	probably damaging	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Atn1	T	C	6: 124,722,259 (GRCm39)		probably benign	Het
Bcl7a	A	T	5: 123,494,032 (GRCm39)	D68V	probably damaging	Het
Cbl	A	C	9: 44,075,462 (GRCm39)	C394W	probably damaging	Het
Ccdc18	T	A	5: 108,341,668 (GRCm39)	D854E	probably benign	Het
Ccdc93	A	T	1: 121,426,956 (GRCm39)	E580V	probably damaging	Het
Cd180	T	A	13: 102,842,517 (GRCm39)	M521K	probably benign	Het
Cd300ld2	T	G	11: 114,903,444 (GRCm39)		probably benign	Het
Cdh10	T	C	15: 18,899,690 (GRCm39)	F6L	probably benign	Het
Cep78	A	G	19: 15,933,368 (GRCm39)	S737P	probably damaging	Het
Ces1f	G	T	8: 94,000,893 (GRCm39)		probably benign	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Col20a1	T	C	2: 180,657,606 (GRCm39)	L1250P	possibly damaging	Het
Crispld2	G	A	8: 120,737,306 (GRCm39)	G19E	probably benign	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cul4a	A	G	8: 13,192,589 (GRCm39)	T617A	possibly damaging	Het
Cyp2c68	G	T	19: 39,722,733 (GRCm39)	R272S	probably benign	Het
Cystm1	A	G	18: 36,499,729 (GRCm39)	Y48C	unknown	Het
Dach1	T	A	14: 98,077,645 (GRCm39)	R579S	possibly damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Dnah10	A	C	5: 124,909,590 (GRCm39)		probably null	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Eif4g1	A	G	16: 20,497,398 (GRCm39)	T202A	probably damaging	Het
Ephb4	A	T	5: 137,361,572 (GRCm39)	Q525L	possibly damaging	Het
F2	T	C	2: 91,465,539 (GRCm39)	D82G	probably benign	Het
Fam184b	G	T	5: 45,689,231 (GRCm39)	N868K	possibly damaging	Het
Fbxo25	A	G	8: 13,985,248 (GRCm39)	T314A	probably damaging	Het
Folh1	A	G	7: 86,375,114 (GRCm39)	M624T	possibly damaging	Het
Gabra5	G	A	7: 57,138,940 (GRCm39)	R71*	probably null	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Hmcn1	A	T	1: 150,479,563 (GRCm39)	C4634S	probably damaging	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Igfbp4	G	A	11: 98,932,512 (GRCm39)	G64R	probably damaging	Het
Itch	G	A	2: 155,010,666 (GRCm39)	V45I	probably damaging	Het
Itgb1	T	A	8: 129,446,938 (GRCm39)	F484L	probably benign	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Mast4	A	T	13: 102,930,625 (GRCm39)	V209D	probably damaging	Het
Matn3	T	A	12: 9,002,041 (GRCm39)	D84E	probably damaging	Het
Mcm7	T	A	5: 138,168,637 (GRCm39)	Q18L	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Megf11	A	G	9: 64,587,581 (GRCm39)	T460A	probably benign	Het
Mlh1	A	T	9: 111,086,092 (GRCm39)		probably benign	Het
Mylk	T	A	16: 34,732,600 (GRCm39)	S627T	probably benign	Het
Nat2	A	G	8: 67,954,204 (GRCm39)	M105V	possibly damaging	Het
Nav2	A	G	7: 49,197,943 (GRCm39)	T2A	possibly damaging	Het
Ndst3	A	T	3: 123,465,120 (GRCm39)	I284N	probably damaging	Het
Nfix	A	G	8: 85,498,904 (GRCm39)	V23A	possibly damaging	Het
Nr2f1	T	C	13: 78,338,045 (GRCm39)	Y200C	probably damaging	Het
Or14a258	T	C	7: 86,035,769 (GRCm39)	Y33C	probably damaging	Het
Or2g25	T	C	17: 37,970,754 (GRCm39)	I157V	possibly damaging	Het
Or6b13	G	A	7: 139,782,285 (GRCm39)	R133C	probably damaging	Het
Or8d1b	T	C	9: 38,887,200 (GRCm39)	V76A	probably benign	Het
Or8u8	T	G	2: 86,011,882 (GRCm39)	D191A	probably damaging	Het
Pcdhb21	T	C	18: 37,647,648 (GRCm39)	V259A	possibly damaging	Het
Phip	A	T	9: 82,827,845 (GRCm39)	V127E	probably damaging	Het
Pik3r5	A	G	11: 68,383,318 (GRCm39)	D379G	probably damaging	Het
Pkdrej	A	T	15: 85,704,525 (GRCm39)	C470*	probably null	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,943,508 (GRCm39)	V1248I	probably damaging	Het
Pou3f2	A	T	4: 22,486,917 (GRCm39)	C405*	probably null	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Rest	T	A	5: 77,428,745 (GRCm39)	V388E	probably damaging	Het
Rnft2	A	T	5: 118,370,540 (GRCm39)	W220R	probably damaging	Het
Rnpc3	A	T	3: 113,415,559 (GRCm39)	Y107*	probably null	Het
Senp8	G	A	9: 59,644,835 (GRCm39)	S94F	probably damaging	Het
Ski	A	G	4: 155,306,698 (GRCm39)	S94P	possibly damaging	Het
Skint8	A	G	4: 111,794,192 (GRCm39)	D194G	probably damaging	Het
Slc35c2	C	A	2: 165,120,303 (GRCm39)	R232L	probably benign	Het
Slc43a3	T	A	2: 84,777,245 (GRCm39)	V198D	possibly damaging	Het
Slc8b1	A	T	5: 120,667,717 (GRCm39)	N467I	probably damaging	Het
Srbd1	A	G	17: 86,422,732 (GRCm39)		probably benign	Het
Sstr3	T	C	15: 78,424,168 (GRCm39)	H193R	probably damaging	Het
Sv2c	A	C	13: 96,113,283 (GRCm39)	S555R	probably benign	Het
Tagln3	A	G	16: 45,532,013 (GRCm39)	V173A	possibly damaging	Het
Tctn2	C	A	5: 124,757,143 (GRCm39)		noncoding transcript	Het
Tfap2a	G	T	13: 40,881,884 (GRCm39)	H167Q	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem30c	A	G	16: 57,090,352 (GRCm39)		probably benign	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Tnxb	C	T	17: 34,922,431 (GRCm39)	Q2415*	probably null	Het
Ttyh1	T	C	7: 4,122,730 (GRCm39)	L26P	probably damaging	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Vdac3	A	T	8: 23,070,553 (GRCm39)	Y119*	probably null	Het
Vmn2r58	T	C	7: 41,486,682 (GRCm39)	I738V	possibly damaging	Het
Zfp704	A	G	3: 9,539,551 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,880,729 (GRCm39)	R352W	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
R1951:Ctbp2	UTSW	7	132,616,756 (GRCm39)	missense	probably benign
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'- ACAGTGGCTTCAGCTTATGC -3'
(R):5'- AGTTGTGGTCATAGTACCCAAC -3'

Sequencing Primer
(F):5'- GGATTCCTCAAAATCTAGTTCAGAG -3'
(R):5'- GTGGTCATAGTACCCAACACTAGTG -3'

Posted On

2014-06-30