Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Ctbp2'

571108

Institutional Source

Beutler Lab

Gene Symbol

Ctbp2

Ensembl Gene

ENSMUSG00000030970

Gene Name

C-terminal binding protein 2

Synonyms

Ribeye, D7Ertd45e, Gtrgeo6

MMRRC Submission

045444-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132589292-132726083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132600610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 70 (F70S)

Ref Sequence

ENSEMBL: ENSMUSP00000127448 (fasta)

Gene Model

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

AlphaFold

P56546

Predicted Effect

probably damaging
Transcript: ENSMUST00000033269
AA Change: F95S

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

SMART Domains

Protein: ENSMUSP00000033269
Gene: ENSMUSG00000030970
AA Change: F95S

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: ENSMUST00000165457

Predicted Effect

probably damaging
Transcript: ENSMUST00000166439
AA Change: F70S

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

SMART Domains

Protein: ENSMUSP00000127448
Gene: ENSMUSG00000030970
AA Change: F70S

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 damaging
Transcript: ENSMUST00000168958
AA Change: F78S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132892
Gene: ENSMUSG00000030970
AA Change: F78S

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: F638S

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

SMART Domains

Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: F638S

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 damaging
Transcript: ENSMUST00000172341
AA Change: F95S

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

SMART Domains

Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970
AA Change: F95S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,510,529 (GRCm39)	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,564,962 (GRCm39)	D9V	probably benign	Het
Ahcyl	T	C	16: 45,974,201 (GRCm39)	E392G	probably damaging	Het
Ankrd13c	T	A	3: 157,697,374 (GRCm39)	Y326*	probably null	Het
Ano2	A	G	6: 125,687,696 (GRCm39)	D67G	probably benign	Het
Arhgef5	G	A	6: 43,256,507 (GRCm39)	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,590,448 (GRCm39)	Y1055*	probably null	Het
Atad5	C	T	11: 80,023,862 (GRCm39)	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 91,031,926 (GRCm39)	D252G	probably damaging	Het
Bdkrb2	T	C	12: 105,558,800 (GRCm39)	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,146,007 (GRCm39)	L1194Q	probably damaging	Het
Chd9	A	C	8: 91,710,115 (GRCm39)	D770A	unknown	Het
Chd9	A	G	8: 91,760,846 (GRCm39)	D2197G	unknown	Het
Clip2	C	A	5: 134,531,484 (GRCm39)	E774*	probably null	Het
Clspn	A	G	4: 126,459,993 (GRCm39)	T407A	probably benign	Het
Col24a1	T	A	3: 144,998,926 (GRCm39)		probably null	Het
Cradd	T	A	10: 95,158,637 (GRCm39)	T37S	probably damaging	Het
Cspg4b	A	G	13: 113,456,501 (GRCm39)	D849G		Het
D3Ertd751e	A	T	3: 41,701,000 (GRCm39)	E6D	probably damaging	Het
Dst	T	A	1: 34,230,754 (GRCm39)	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479 (GRCm39)		probably null	Het
Eif2s1	G	T	12: 78,927,969 (GRCm39)	G215V	probably damaging	Het
Epg5	A	T	18: 78,002,252 (GRCm39)	D557V	possibly damaging	Het
Eya4	C	T	10: 22,999,749 (GRCm39)		probably null	Het
Fpr1	C	A	17: 18,097,242 (GRCm39)	R249L	probably damaging	Het
Fry	A	G	5: 150,339,788 (GRCm39)	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,580,473 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,104,278 (GRCm39)	L161*	probably null	Het
Gid8	A	T	2: 180,359,779 (GRCm39)	K221I	probably benign	Het
Gm21028	A	C	7: 42,227,913 (GRCm39)	C34G	probably damaging	Het
Greb1	A	G	12: 16,774,882 (GRCm39)	S172P	probably damaging	Het
Herc2	A	G	7: 55,832,423 (GRCm39)	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,306,824 (GRCm39)	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,230,448 (GRCm39)	G229*	probably null	Het
Igfn1	A	T	1: 135,891,738 (GRCm39)	V2259D	probably damaging	Het
Ism2	A	G	12: 87,326,814 (GRCm39)	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,903,478 (GRCm39)	D357V	probably damaging	Het
Knl1	A	G	2: 118,901,040 (GRCm39)	R914G	possibly damaging	Het
Mars2	T	C	1: 55,276,729 (GRCm39)	S111P	probably damaging	Het
Mogat2	G	A	7: 98,881,673 (GRCm39)	P88S	possibly damaging	Het
Msh2	T	A	17: 88,024,957 (GRCm39)	S612T	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or1j20	T	C	2: 36,759,890 (GRCm39)	V104A	probably benign	Het
Or2d3c	A	T	7: 106,526,111 (GRCm39)	L185Q	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,390 (GRCm39)	L259P	unknown	Het
Or5m11b	T	A	2: 85,805,780 (GRCm39)	S64R	possibly damaging	Het
Or6c202	T	A	10: 128,995,939 (GRCm39)	I305F	probably benign	Het
Or7e174	A	T	9: 20,012,169 (GRCm39)	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,804,205 (GRCm39)		probably null	Het
Pard3	A	T	8: 128,319,573 (GRCm39)	I1149L	probably damaging	Het
Pcdha8	T	A	18: 37,125,830 (GRCm39)	I104N	probably damaging	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pgap2	A	T	7: 101,859,774 (GRCm39)		probably benign	Het
Phf7	T	C	14: 30,963,745 (GRCm39)	R76G	probably benign	Het
Pigu	T	C	2: 155,141,090 (GRCm39)	T268A	probably damaging	Het
Piwil4	T	C	9: 14,641,289 (GRCm39)	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,895,202 (GRCm39)	E636A		Het
Plscr3	T	C	11: 69,738,316 (GRCm39)	S55P	unknown	Het
Pnlip	T	A	19: 58,664,976 (GRCm39)	I268N	probably damaging	Het
Podxl	A	T	6: 31,501,929 (GRCm39)	H343Q	probably benign	Het
Prkcd	T	C	14: 30,327,793 (GRCm39)	T213A	probably benign	Het
Prss22	T	A	17: 24,215,419 (GRCm39)	Q119L	probably benign	Het
Psme3ip1	T	C	8: 95,302,327 (GRCm39)	N235D	possibly damaging	Het
Ptprcap	A	G	19: 4,206,238 (GRCm39)	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198 (GRCm38)	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,124,448 (GRCm39)	T166A	probably benign	Het
Sbf2	T	C	7: 109,998,555 (GRCm39)	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,512,850 (GRCm39)	Y203*	probably null	Het
Serpinb1a	G	C	13: 33,026,981 (GRCm39)	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,832,920 (GRCm39)	T464I	probably benign	Het
Slc47a2	G	A	11: 61,199,699 (GRCm39)	A399V	possibly damaging	Het
Snrnp200	A	G	2: 127,063,746 (GRCm39)	T642A	probably benign	Het
Spag16	A	G	1: 69,883,526 (GRCm39)	H85R	probably benign	Het
Spata31h1	A	G	10: 82,127,847 (GRCm39)	L1721S	possibly damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stag3	C	A	5: 138,299,770 (GRCm39)	L894M	probably damaging	Het
Sun2	A	T	15: 79,618,313 (GRCm39)	F284Y	probably benign	Het
Tpx2	T	A	2: 152,718,550 (GRCm39)	N184K	probably benign	Het
Trpa1	A	T	1: 14,968,334 (GRCm39)	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,620,791 (GRCm39)	R157H	probably damaging	Het
Ttn	C	T	2: 76,537,649 (GRCm39)	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,532,427 (GRCm39)	S360P	probably damaging	Het
Uqcc5	A	G	14: 30,846,560 (GRCm39)	V53A	probably damaging	Het
Usp34	T	A	11: 23,311,683 (GRCm39)	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,273,468 (GRCm39)	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,360,482 (GRCm39)	C73*	probably null	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141 (GRCm39)	E214G	unknown	Het
Zmym5	T	A	14: 57,031,597 (GRCm39)	K504*	probably null	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
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
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'- TTAGGAATCAGCCTCCAGGAC -3'
(R):5'- TGACAGCATTCCTGATCTCC -3'

Sequencing Primer
(F):5'- GGACAACAGCCCTGACTCCTG -3'
(R):5'- TAGGCACTTGCTCATCAGGAC -3'

Posted On

2019-09-13