Mutagenetix > Incidental Mutation

Incidental Mutation 'R4754:Ctbp2'

357813

Institutional Source

Beutler Lab

Gene Symbol

Ctbp2

Ensembl Gene

ENSMUSG00000030970

Gene Name

C-terminal binding protein 2

Synonyms

Ribeye, D7Ertd45e, Gtrgeo6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132589292-132726083 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 132625287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000124096] [ENSMUST00000155996] [ENSMUST00000163601] [ENSMUST00000168958] [ENSMUST00000167218] [ENSMUST00000171022] [ENSMUST00000171882] [ENSMUST00000170459] [ENSMUST00000172341] [ENSMUST00000166439] [ENSMUST00000171968]

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: ENSMUST00000155996

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

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 null
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

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

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

probably benign
Transcript: ENSMUST00000167218

Predicted Effect

probably benign
Transcript: ENSMUST00000171022

Predicted Effect

probably benign
Transcript: ENSMUST00000171882

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

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: ENSMUST00000171968

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,837 (GRCm39)	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,960,717 (GRCm39)	F266L	probably damaging	Het
Adam8	A	T	7: 139,564,693 (GRCm39)	I681N	possibly damaging	Het
Adgrf3	T	A	5: 30,402,615 (GRCm39)		probably null	Het
Ang2	A	G	14: 51,432,974 (GRCm39)	V136A	probably damaging	Het
Ankar	C	T	1: 72,737,853 (GRCm39)	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,540,468 (GRCm39)	L130P	probably damaging	Het
Apc2	T	G	10: 80,150,192 (GRCm39)	W1749G	probably benign	Het
Asb2	T	C	12: 103,290,096 (GRCm39)	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,233,279 (GRCm39)	T58K	probably benign	Het
Bltp1	C	T	3: 37,076,615 (GRCm39)	Q3663*	probably null	Het
Brpf1	T	A	6: 113,297,408 (GRCm39)	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,098,994 (GRCm39)	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 104,912,410 (GRCm39)	I555F	probably damaging	Het
Cfap73	T	C	5: 120,767,729 (GRCm39)	D274G	probably damaging	Het
Chd5	T	A	4: 152,462,203 (GRCm39)	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,658,911 (GRCm39)	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,443,200 (GRCm39)	I964V	possibly damaging	Het
Dhrs2	A	T	14: 55,476,205 (GRCm39)	I142F	probably damaging	Het
Dnah5	T	A	15: 28,421,101 (GRCm39)		probably null	Het
Dst	T	C	1: 34,251,390 (GRCm39)	S1822P	probably damaging	Het
Ect2	T	C	3: 27,181,112 (GRCm39)	K581E	probably damaging	Het
Edem1	C	T	6: 108,818,658 (GRCm39)	T222M	probably damaging	Het
Eif2ak1	A	G	5: 143,838,621 (GRCm39)	M592V	probably damaging	Het
Endou	T	G	15: 97,624,420 (GRCm39)	D49A	probably damaging	Het
Ensa	A	G	3: 95,529,865 (GRCm39)		probably benign	Het
Evc2	G	T	5: 37,544,375 (GRCm39)	R708L	probably damaging	Het
Fam120b	T	A	17: 15,643,224 (GRCm39)	C668S	probably damaging	Het
Fam135a	A	T	1: 24,067,835 (GRCm39)	C798*	probably null	Het
Fam135b	T	C	15: 71,334,800 (GRCm39)	D798G	probably benign	Het
Fshb	A	C	2: 106,887,627 (GRCm39)	*131E	probably null	Het
G3bp2	C	T	5: 92,202,768 (GRCm39)	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,597,105 (GRCm39)	F354I	probably damaging	Het
Gm1123	C	A	9: 98,905,293 (GRCm39)		probably null	Het
Gm1123	A	T	9: 98,905,294 (GRCm39)		probably null	Het
Gm15130	T	C	2: 110,973,207 (GRCm39)	N115S	unknown	Het
Gm7104	A	G	12: 88,252,765 (GRCm39)		noncoding transcript	Het
Gm9762	A	T	3: 78,873,728 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,756,173 (GRCm39)	T505A	probably damaging	Het
Grip2	A	G	6: 91,756,163 (GRCm39)	V508A	probably damaging	Het
Haus4	A	G	14: 54,787,349 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,408,488 (GRCm39)	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,546,950 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,321 (GRCm39)	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,881 (GRCm39)		noncoding transcript	Het
Kcnma1	T	C	14: 23,413,904 (GRCm39)	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,687,439 (GRCm39)	I430F	possibly damaging	Het
Lama2	C	A	10: 26,994,527 (GRCm39)	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,256,137 (GRCm39)	F59I	probably damaging	Het
Mib2	G	T	4: 155,739,822 (GRCm39)	T783K	possibly damaging	Het
Nlrp4g	T	C	9: 124,349,788 (GRCm38)		noncoding transcript	Het
Nudt16l2	A	T	9: 105,021,592 (GRCm39)	F151L	probably benign	Het
Obscn	T	C	11: 58,926,869 (GRCm39)	I6352V	possibly damaging	Het
Or2j6	C	T	7: 139,980,072 (GRCm39)	A296T	probably damaging	Het
Or4a72	A	T	2: 89,405,391 (GRCm39)	H226Q	probably benign	Het
Or4k1	T	A	14: 50,377,490 (GRCm39)	N202I	possibly damaging	Het
Or4k1	T	G	14: 50,377,491 (GRCm39)	N202H	probably benign	Het
Or52a5	T	C	7: 103,426,875 (GRCm39)	I226V	probably benign	Het
Or5b125-ps1	T	A	19: 13,056,225 (GRCm39)		noncoding transcript	Het
Pcdh10	G	A	3: 45,335,072 (GRCm39)	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,899,604 (GRCm39)	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,435,601 (GRCm39)	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,821,016 (GRCm39)	D282G	probably damaging	Het
Plod2	T	G	9: 92,488,584 (GRCm39)	Y624*	probably null	Het
Prkd3	C	A	17: 79,264,043 (GRCm39)	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,816,080 (GRCm39)	V198D	probably damaging	Het
Ptpn12	G	T	5: 21,203,587 (GRCm39)	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,212 (GRCm39)		probably benign	Het
Rasl11a	A	G	5: 146,783,825 (GRCm39)	D90G	probably benign	Het
Rnf181	A	G	6: 72,337,543 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,587,984 (GRCm39)	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,061,295 (GRCm39)		probably benign	Het
Slc22a3	T	C	17: 12,726,082 (GRCm39)	S44G	probably benign	Het
Slc38a1	A	T	15: 96,474,663 (GRCm39)	F463I	probably damaging	Het
Smg1	A	T	7: 117,755,954 (GRCm39)		probably benign	Het
Syk	T	C	13: 52,766,295 (GRCm39)		probably benign	Het
Tasor	A	T	14: 27,183,052 (GRCm39)	I504L	probably benign	Het
Tbc1d5	T	C	17: 51,107,193 (GRCm39)	I454M	probably benign	Het
Tmed6	C	A	8: 107,790,362 (GRCm39)	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,335,677 (GRCm39)	K828*	probably null	Het
Tmprss15	A	T	16: 78,851,012 (GRCm39)	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,038,360 (GRCm39)	S1493P	probably damaging	Het
Tshb	A	T	3: 102,685,491 (GRCm39)	I46N	probably damaging	Het
Tspan11	T	C	6: 127,915,183 (GRCm39)	V99A	probably benign	Het
Ttn	T	C	2: 76,545,905 (GRCm39)	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,012,952 (GRCm39)	M1T	probably null	Het
Vmn2r104	A	T	17: 20,261,030 (GRCm39)	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,816,458 (GRCm39)	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,600,715 (GRCm39)	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,752,466 (GRCm39)	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477 (GRCm39)	S139T	probably benign	Het
Zkscan17	G	A	11: 59,393,851 (GRCm39)	R156*	probably null	Het
Zp2	A	G	7: 119,737,541 (GRCm39)	V248A	probably benign	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
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'- ATAAGCGAGCGGTGTTGACC -3'
(R):5'- TAGCCGTTCTGAGAGCTCTG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- AGCTCTGCTCTCTGTAGATTTTG -3'

Posted On

2015-11-11