Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Ctbp2'

382281

Institutional Source

Beutler Lab

Gene Symbol

Ctbp2

Ensembl Gene

ENSMUSG00000030970

Gene Name

C-terminal binding protein 2

Synonyms

Ribeye, D7Ertd45e, Gtrgeo6

MMRRC Submission

042557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132589292-132726083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132615967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 323 (I323V)

Ref Sequence

ENSEMBL: ENSMUSP00000130294 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000164739

SMART Domains

Protein: ENSMUSP00000130157
Gene: ENSMUSG00000030970

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164896

SMART Domains

Protein: ENSMUSP00000129195
Gene: ENSMUSG00000030970

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165534

SMART Domains

Protein: ENSMUSP00000132311
Gene: ENSMUSG00000030970

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169570
AA Change: I323V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: I323V

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

noncoding transcript
Transcript: ENSMUST00000166400

SMART Domains

Protein: ENSMUSP00000131868
Gene: ENSMUSG00000030970

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171727

SMART Domains

Protein: ENSMUSP00000127123
Gene: ENSMUSG00000030970

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC

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: ENSMUST00000170459

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 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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,566,509 (GRCm39)		probably null	Het
Abtb3	A	C	10: 85,487,526 (GRCm39)	N998T	probably benign	Het
Adamts20	T	C	15: 94,277,655 (GRCm39)	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,342,410 (GRCm39)	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,216,185 (GRCm39)	T863P	probably damaging	Het
Adcy3	G	T	12: 4,184,896 (GRCm39)	V191L	probably benign	Het
Akap9	G	T	5: 4,007,664 (GRCm39)	R244L	probably benign	Het
Anapc1	C	T	2: 128,526,514 (GRCm39)	V95M	probably benign	Het
Arhgap17	G	T	7: 122,886,149 (GRCm39)		probably benign	Het
Art2b	T	A	7: 101,229,437 (GRCm39)	Y154F	probably damaging	Het
Atrn	C	T	2: 130,836,967 (GRCm39)	R1144*	probably null	Het
Atxn3	T	C	12: 101,914,638 (GRCm39)	S29G	possibly damaging	Het
Batf3	C	T	1: 190,830,707 (GRCm39)	P18S	probably benign	Het
Bmal1	T	A	7: 112,898,642 (GRCm39)		probably null	Het
Bmpr1b	A	T	3: 141,576,546 (GRCm39)	C96S	probably damaging	Het
Bola1	A	G	3: 96,104,370 (GRCm39)	S75P	probably benign	Het
Cela3a	G	A	4: 137,129,959 (GRCm39)	R221*	probably null	Het
Chat	A	G	14: 32,142,771 (GRCm39)	V406A	possibly damaging	Het
Chd1	T	A	17: 15,962,493 (GRCm39)	M750K	probably damaging	Het
Clip1	T	A	5: 123,792,066 (GRCm39)	K35*	probably null	Het
Cnr2	G	A	4: 135,644,918 (GRCm39)	G332D	probably benign	Het
Cnrip1	A	G	11: 17,002,228 (GRCm39)	D20G	probably damaging	Het
Col2a1	T	C	15: 97,874,030 (GRCm39)	Y1384C	unknown	Het
Col6a3	T	A	1: 90,731,940 (GRCm39)	I831F	probably damaging	Het
Cp	G	A	3: 20,027,961 (GRCm39)	V456I	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctnna2	C	T	6: 77,630,094 (GRCm39)	R120H	probably damaging	Het
Cyp2a12	A	G	7: 26,733,575 (GRCm39)	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,151,766 (GRCm39)		probably null	Het
Cyp2j8	T	C	4: 96,395,614 (GRCm39)	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,571 (GRCm39)	R275*	probably null	Het
Deup1	G	T	9: 15,512,264 (GRCm39)	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,404,280 (GRCm39)	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,272,886 (GRCm39)	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,940,969 (GRCm39)	L62V	probably benign	Het
Ephb3	A	G	16: 21,039,245 (GRCm39)	K367R	probably benign	Het
Etv3	A	G	3: 87,435,368 (GRCm39)	K80E	probably damaging	Het
Flacc1	T	A	1: 58,706,965 (GRCm39)	E234V	probably damaging	Het
Gdap1l1	T	C	2: 163,295,779 (GRCm39)	F346L	probably benign	Het
Gm4787	C	T	12: 81,426,090 (GRCm39)	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306 (GRCm39)	I1508N	probably damaging	Het
Heatr5b	G	A	17: 79,139,013 (GRCm39)	T43I	probably benign	Het
Hephl1	T	C	9: 14,997,586 (GRCm39)	Y360C	probably damaging	Het
Itgam	A	C	7: 127,715,012 (GRCm39)	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,054,186 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,042,259 (GRCm39)	C185*	probably null	Het
Klhl35	G	T	7: 99,118,275 (GRCm39)	G273V	probably damaging	Het
Lama5	A	G	2: 179,850,045 (GRCm39)		probably null	Het
Lamc3	A	G	2: 31,805,966 (GRCm39)	Q689R	probably benign	Het
Lnx2	C	T	5: 146,955,850 (GRCm39)	V649I	probably benign	Het
Lrrc43	A	G	5: 123,637,675 (GRCm39)	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,290,730 (GRCm39)	A67S	probably benign	Het
Map1b	A	G	13: 99,568,720 (GRCm39)	S1334P	probably benign	Het
Mast1	T	A	8: 85,644,500 (GRCm39)	T810S	probably benign	Het
Matcap1	G	T	8: 106,009,843 (GRCm39)	R369S	probably damaging	Het
Mbnl1	A	G	3: 60,503,117 (GRCm39)	M1V	probably null	Het
Mc5r	T	G	18: 68,471,890 (GRCm39)	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,435,941 (GRCm39)	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,335,088 (GRCm39)	C138*	probably null	Het
Mtarc2	T	A	1: 184,566,116 (GRCm39)	M186L	probably benign	Het
Ncbp1	C	T	4: 46,165,273 (GRCm39)	Q529*	probably null	Het
Nherf1	A	G	11: 115,067,289 (GRCm39)	D180G	probably benign	Het
Nrcam	A	G	12: 44,613,082 (GRCm39)	D591G	probably benign	Het
Nrxn3	A	T	12: 88,761,971 (GRCm39)	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342 (GRCm39)	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,448,342 (GRCm39)		probably benign	Het
Omt2a	T	A	9: 78,220,305 (GRCm39)	E31D	possibly damaging	Het
Or4f62	A	G	2: 111,986,697 (GRCm39)	T134A	probably benign	Het
Or52n2b	A	G	7: 104,565,915 (GRCm39)	I196T	probably benign	Het
Or5ac20	A	G	16: 59,104,348 (GRCm39)	S171P	probably benign	Het
Or6c88	A	C	10: 129,406,895 (GRCm39)	I124L	probably damaging	Het
Or9a2	C	A	6: 41,749,003 (GRCm39)	V77F	probably damaging	Het
Phyhipl	A	G	10: 70,404,815 (GRCm39)	V131A	probably benign	Het
Pik3r5	A	G	11: 68,384,464 (GRCm39)	M619V	probably benign	Het
Pramel19	T	C	4: 101,798,661 (GRCm39)	Y211H	probably benign	Het
Ptprg	A	T	14: 12,237,837 (GRCm38)	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029 (GRCm39)	T85A	probably damaging	Het
Rtn3	A	T	19: 7,433,886 (GRCm39)	I683K	probably damaging	Het
Rwdd3	A	G	3: 120,952,470 (GRCm39)	F174L	probably damaging	Het
Ryr1	T	C	7: 28,778,208 (GRCm39)	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,511,407 (GRCm39)	D111G	probably damaging	Het
Sema3e	A	G	5: 14,302,646 (GRCm39)	R724G	possibly damaging	Het
She	A	G	3: 89,741,544 (GRCm39)	M232V	possibly damaging	Het
Skic3	T	A	13: 76,333,275 (GRCm39)	V1508E	possibly damaging	Het
Slc25a54	A	T	3: 109,020,132 (GRCm39)	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,331,875 (GRCm39)	M519V	probably damaging	Het
Slc9a1	T	A	4: 133,097,967 (GRCm39)	L38H	probably damaging	Het
Snap47	A	T	11: 59,319,369 (GRCm39)	D256E	probably damaging	Het
Tacc3	A	G	5: 33,829,326 (GRCm39)	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,103,121 (GRCm39)	T637M	probably benign	Het
Tbcd	T	A	11: 121,464,681 (GRCm39)	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460 (GRCm38)	D68E	probably benign	Het
Tmpo	G	A	10: 90,989,171 (GRCm39)	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,345,445 (GRCm39)		probably benign	Het
Tnfaip1	A	T	11: 78,418,396 (GRCm39)	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Tspoap1	C	T	11: 87,657,222 (GRCm39)	Q345*	probably null	Het
Ttc21a	A	G	9: 119,774,067 (GRCm39)	E258G	possibly damaging	Het
Ttyh1	T	C	7: 4,131,225 (GRCm39)	L232P	probably damaging	Het
Usp2	T	A	9: 43,987,110 (GRCm39)	L136Q	probably damaging	Het
Usp31	T	C	7: 121,247,868 (GRCm39)	S1192G	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
R1865:Ctbp2	UTSW	7	132,592,283 (GRCm39)	missense	probably benign	0.02
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
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'- TGTCTGCAAAGGTCCAGCAG -3'
(R):5'- TGGCTTATGAGAATTACGAAGCTGAC -3'

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

Posted On

2016-04-27