Incidental Mutation 'IGL01365:Cttnbp2nl'
ID75913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cttnbp2nl
Ensembl Gene ENSMUSG00000062127
Gene NameCTTNBP2 N-terminal like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL01365
Quality Score
Status
Chromosome3
Chromosomal Location105001915-105053146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105005030 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 513 (T513A)
Ref Sequence ENSEMBL: ENSMUSP00000096359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]
Predicted Effect probably damaging
Transcript: ENSMUST00000077548
AA Change: T513A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: T513A

DomainStartEndE-ValueType
Pfam:CortBP2 1 189 1.9e-60 PFAM
low complexity region 263 278 N/A INTRINSIC
low complexity region 401 434 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
low complexity region 578 586 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098763
AA Change: T513A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: T513A

DomainStartEndE-ValueType
Pfam:CortBP2 2 188 8.5e-71 PFAM
low complexity region 263 278 N/A INTRINSIC
low complexity region 401 434 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
low complexity region 578 586 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197437
SMART Domains Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127

DomainStartEndE-ValueType
Pfam:CortBP2 1 167 7.7e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199002
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
CK137956 A G 4: 127,951,342 S203P probably benign Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Dppa2 A G 16: 48,313,913 K67R possibly damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Olfr294 T C 7: 86,615,997 Y216C probably damaging Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Sec14l2 G T 11: 4,098,317 D400E probably benign Het
Setd3 A T 12: 108,157,906 Y175N probably damaging Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Srsf1 G T 11: 88,049,181 R173L possibly damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in Cttnbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Cttnbp2nl APN 3 105011228 missense probably damaging 1.00
IGL02070:Cttnbp2nl APN 3 105011266 missense probably damaging 1.00
R0131:Cttnbp2nl UTSW 3 105005857 missense probably damaging 1.00
R0131:Cttnbp2nl UTSW 3 105005857 missense probably damaging 1.00
R0132:Cttnbp2nl UTSW 3 105005857 missense probably damaging 1.00
R1919:Cttnbp2nl UTSW 3 105011278 missense possibly damaging 0.51
R3766:Cttnbp2nl UTSW 3 105004801 missense probably benign 0.27
R3964:Cttnbp2nl UTSW 3 105006005 missense probably damaging 1.00
R4509:Cttnbp2nl UTSW 3 105032747 missense probably damaging 1.00
R4597:Cttnbp2nl UTSW 3 105005875 missense possibly damaging 0.76
R4820:Cttnbp2nl UTSW 3 105011324 missense probably benign 0.00
R5233:Cttnbp2nl UTSW 3 105005041 missense probably damaging 1.00
R6230:Cttnbp2nl UTSW 3 105011339 missense probably damaging 0.99
R6385:Cttnbp2nl UTSW 3 105005636 missense probably benign 0.41
R6551:Cttnbp2nl UTSW 3 105005117 missense possibly damaging 0.92
R6685:Cttnbp2nl UTSW 3 105005498 missense probably benign 0.06
R6883:Cttnbp2nl UTSW 3 105011191 critical splice donor site probably null
R7262:Cttnbp2nl UTSW 3 105032746 missense probably damaging 1.00
X0060:Cttnbp2nl UTSW 3 105005218 missense probably damaging 1.00
Posted On2013-10-07