Incidental Mutation 'R1988:Ctbp1'
ID222813
Institutional Source Beutler Lab
Gene Symbol Ctbp1
Ensembl Gene ENSMUSG00000037373
Gene NameC-terminal binding protein 1
SynonymsD5H4S115, BARS, D4S115h, CtBP3/BARS, D5H4S115E, CtBP1-L, CtBP1-S
MMRRC Submission 040000-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #R1988 (G1)
Quality Score201
Status Validated
Chromosome5
Chromosomal Location33247723-33274994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33250904 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 228 (L228P)
Ref Sequence ENSEMBL: ENSMUSP00000144024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079746] [ENSMUST00000201275] [ENSMUST00000201372] [ENSMUST00000201575] [ENSMUST00000202868] [ENSMUST00000202962]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079746
AA Change: L239P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
AA Change: L239P

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 30 352 3.3e-31 PFAM
Pfam:2-Hacid_dh_C 133 317 8.5e-58 PFAM
Pfam:NAD_binding_2 174 291 9e-7 PFAM
low complexity region 413 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201275
SMART Domains Protein: ENSMUSP00000144029
Gene: ENSMUSG00000037373

DomainStartEndE-ValueType
PDB:2HU2|A 1 54 5e-33 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000201372
AA Change: L165P

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143877
Gene: ENSMUSG00000037373
AA Change: L165P

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 1 102 2.2e-17 PFAM
Pfam:2-Hacid_dh_C 59 180 3.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201514
Predicted Effect possibly damaging
Transcript: ENSMUST00000201575
AA Change: L165P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144554
Gene: ENSMUSG00000037373
AA Change: L165P

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 1 278 6.7e-22 PFAM
Pfam:2-Hacid_dh_C 59 243 6.4e-56 PFAM
Pfam:NAD_binding_2 100 217 2.5e-5 PFAM
low complexity region 339 350 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202135
Predicted Effect possibly damaging
Transcript: ENSMUST00000202868
AA Change: L228P

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
AA Change: L228P

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 19 341 3.5e-31 PFAM
Pfam:2-Hacid_dh_C 122 306 8.6e-58 PFAM
Pfam:NAD_binding_2 163 280 3.8e-7 PFAM
low complexity region 401 412 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202962
AA Change: L228P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
AA Change: L228P

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 19 269 3.3e-24 PFAM
Pfam:2-Hacid_dh_C 122 303 4.1e-51 PFAM
Pfam:NAD_binding_2 163 280 2.1e-5 PFAM
low complexity region 310 327 N/A INTRINSIC
Meta Mutation Damage Score 0.9377 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (79/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial postnatal lethality and decreased body size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,896 D216V possibly damaging Het
2610021A01Rik C T 7: 41,626,657 R595* probably null Het
Adgrl3 A G 5: 81,688,567 D724G probably damaging Het
Akap6 T C 12: 53,140,795 F1664S possibly damaging Het
Akt1 T C 12: 112,655,151 I404V probably benign Het
Anxa13 T A 15: 58,341,948 noncoding transcript Het
Atoh1 T C 6: 64,729,633 V104A probably benign Het
Brwd1 T C 16: 96,021,237 D1256G probably damaging Het
C9 ATTTT ATTT 15: 6,483,138 probably null Het
Cd164 A G 10: 41,523,181 T89A probably benign Het
Cep350 G C 1: 155,933,104 N575K possibly damaging Het
Chrm5 A G 2: 112,480,252 V173A probably damaging Het
Cnot1 A G 8: 95,741,944 V1417A possibly damaging Het
Cntnap3 T C 13: 64,758,390 T801A probably damaging Het
Cntnap5b A C 1: 100,072,140 K208Q possibly damaging Het
Crx A T 7: 15,869,347 V107D possibly damaging Het
Csrnp2 A G 15: 100,489,440 F49S probably damaging Het
Ctdp1 A T 18: 80,449,401 D626E possibly damaging Het
Cyp1a2 T C 9: 57,682,286 T82A possibly damaging Het
Dnah3 T A 7: 119,967,570 T2478S possibly damaging Het
Dnah3 T G 7: 119,967,959 D2348A probably damaging Het
Dnah5 T C 15: 28,343,591 I2379T probably damaging Het
Dnah6 A G 6: 73,092,192 I2504T probably damaging Het
Dnase1l2 A C 17: 24,441,651 W138G probably damaging Het
Dopey2 T A 16: 93,766,173 I855N probably damaging Het
Dsc3 T A 18: 19,965,846 N759Y possibly damaging Het
Dtx2 C T 5: 136,032,293 R510* probably null Het
Fat4 G T 3: 38,887,115 M52I probably benign Het
Fat4 G A 3: 38,996,090 E4034K probably damaging Het
Fezf2 T C 14: 12,344,350 K279R probably damaging Het
Fsip2 G T 2: 82,976,517 W1060L possibly damaging Het
G6pc T A 11: 101,367,942 I49N probably damaging Het
Gars A G 6: 55,077,772 E688G probably null Het
Gdf11 T C 10: 128,885,242 N361S probably benign Het
Gli3 A C 13: 15,726,380 M1451L probably benign Het
Heatr3 T C 8: 88,150,317 I329T probably benign Het
Herc3 T G 6: 58,884,975 probably null Het
Hrnr A G 3: 93,332,604 N3383S unknown Het
Igsf3 A T 3: 101,431,296 I309F probably benign Het
Kif21b C T 1: 136,152,264 R513W probably damaging Het
Kif7 G T 7: 79,699,241 H1195Q probably benign Het
Lpcat4 T C 2: 112,242,542 V182A possibly damaging Het
Map3k21 T A 8: 125,927,555 I371N probably benign Het
Mns1 G A 9: 72,448,759 probably null Het
Myo3a A G 2: 22,578,128 T465A possibly damaging Het
Nlrc4 A T 17: 74,426,943 S992T probably benign Het
Notch4 G A 17: 34,587,588 G1833E possibly damaging Het
Olfr160 A T 9: 37,711,697 I194K possibly damaging Het
Olfr467 A T 7: 107,814,700 I39L probably benign Het
Olfr600 T A 7: 103,346,109 Y273F possibly damaging Het
Olfr666 T C 7: 104,892,903 T242A probably damaging Het
Olfr998 G A 2: 85,590,641 V34I probably benign Het
Pcdh9 G A 14: 93,888,305 P143L probably damaging Het
Pik3cd T A 4: 149,663,203 T28S probably damaging Het
Pkd1 G T 17: 24,576,592 probably null Het
Plk4 A T 3: 40,805,817 S383C possibly damaging Het
Plxna2 T C 1: 194,643,989 L77P probably damaging Het
Ppm1f T C 16: 16,923,666 S335P probably damaging Het
Prr16 C T 18: 51,303,277 P276L probably damaging Het
Rilp A G 11: 75,510,933 probably null Het
Rspry1 A G 8: 94,632,054 probably null Het
Serpinb9b T C 13: 33,029,559 V33A probably benign Het
Slc4a10 C A 2: 62,268,204 Q561K probably damaging Het
Smyd5 T C 6: 85,438,136 I42T possibly damaging Het
Stk17b T C 1: 53,761,082 N246D probably damaging Het
Suco T C 1: 161,818,811 probably null Het
Tcrg-C3 C A 13: 19,260,994 F37L probably damaging Het
Tecpr1 C T 5: 144,204,697 V785M possibly damaging Het
Telo2 C T 17: 25,101,668 V756I probably benign Het
Tgm1 C T 14: 55,705,577 R602H probably benign Het
Timeless A G 10: 128,244,187 T402A probably damaging Het
Tnfaip2 T A 12: 111,449,891 probably null Het
Trim5 A G 7: 104,265,621 S414P probably damaging Het
Txnip A G 3: 96,559,750 T247A possibly damaging Het
Vmn1r174 A T 7: 23,754,625 T239S probably damaging Het
Vmn1r231 T A 17: 20,889,950 E234D probably damaging Het
Zranb3 A T 1: 127,959,743 N982K probably benign Het
Other mutations in Ctbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Ctbp1 APN 5 33259133 splice site probably null
IGL02109:Ctbp1 APN 5 33266968 missense probably damaging 0.99
interminable UTSW 5 33259245 missense possibly damaging 0.57
Terminal UTSW 5 33250860 nonsense probably null
R0282:Ctbp1 UTSW 5 33250856 critical splice donor site probably null
R1445:Ctbp1 UTSW 5 33261063 missense probably benign 0.01
R2008:Ctbp1 UTSW 5 33250986 missense probably damaging 1.00
R3810:Ctbp1 UTSW 5 33267045 splice site probably benign
R4175:Ctbp1 UTSW 5 33266906 missense probably damaging 1.00
R4461:Ctbp1 UTSW 5 33251013 missense probably damaging 1.00
R4494:Ctbp1 UTSW 5 33250869 missense possibly damaging 0.67
R5381:Ctbp1 UTSW 5 33249690 missense probably benign 0.00
R6542:Ctbp1 UTSW 5 33269571 start gained probably benign
R6764:Ctbp1 UTSW 5 33259245 missense possibly damaging 0.57
R6770:Ctbp1 UTSW 5 33250860 nonsense probably null
R7354:Ctbp1 UTSW 5 33250388 missense possibly damaging 0.86
R7946:Ctbp1 UTSW 5 33250344 missense probably benign 0.00
R8951:Ctbp1 UTSW 5 33259335 missense probably damaging 1.00
R8962:Ctbp1 UTSW 5 33259272 missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- ACTACTGCTGCTGTCTAGGC -3'
(R):5'- GAGGATGCATGTCTCACTTCCTC -3'

Sequencing Primer
(F):5'- TGCTGCTGTCTAGGCCAGAG -3'
(R):5'- CTTGACTCTGCCAGGTCGTG -3'
Posted On2014-08-25