Incidental Mutation 'IGL02070:Cttnbp2nl'
ID185768
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? Possibly non essential (E-score: 0.285) question?
Stock #IGL02070
Quality Score
Status
Chromosome3
Chromosomal Location105001915-105053146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 105011266 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 86 (V86G)
Ref Sequence ENSEMBL: ENSMUSP00000143282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]
Predicted Effect probably damaging
Transcript: ENSMUST00000077548
AA Change: V86G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: V86G

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: V86G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: V86G

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 damaging
Transcript: ENSMUST00000197437
AA Change: V86G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127
AA Change: V86G

DomainStartEndE-ValueType
Pfam:CortBP2 1 167 7.7e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199002
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Cttnbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Cttnbp2nl APN 3 105005030 missense probably damaging 1.00
IGL01832:Cttnbp2nl APN 3 105011228 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
R7509:Cttnbp2nl UTSW 3 105032730 missense possibly damaging 0.94
R7619:Cttnbp2nl UTSW 3 105004760 missense possibly damaging 0.73
R8115:Cttnbp2nl UTSW 3 105006086 missense probably damaging 1.00
X0060:Cttnbp2nl UTSW 3 105005218 missense probably damaging 1.00
Posted On2014-05-07