Incidental Mutation 'IGL02183:Ctnnd2'
ID 284316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnnd2
Ensembl Gene ENSMUSG00000022240
Gene Name catenin delta 2
Synonyms Nprap, Catnd2, neurojugin, catenin (cadherin associated protein), delta 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02183
Quality Score
Status
Chromosome 15
Chromosomal Location 30172739-31029487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31020886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1124 (Y1124C)
Ref Sequence ENSEMBL: ENSMUSP00000154410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081728] [ENSMUST00000226119]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000081728
AA Change: Y1149C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: Y1149C

DomainStartEndE-ValueType
coiled coil region 50 84 N/A INTRINSIC
low complexity region 87 97 N/A INTRINSIC
low complexity region 148 159 N/A INTRINSIC
low complexity region 216 230 N/A INTRINSIC
low complexity region 238 257 N/A INTRINSIC
ARM 577 617 1.85e-8 SMART
ARM 621 662 1.15e-9 SMART
ARM 663 720 1.51e1 SMART
ARM 722 769 2.74e1 SMART
ARM 830 871 4.88e0 SMART
ARM 902 942 2.76e-7 SMART
low complexity region 964 973 N/A INTRINSIC
ARM 995 1039 5.64e-4 SMART
low complexity region 1086 1099 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226119
AA Change: Y1124C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227029
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal conditioning, spatial learning and coordination behaviors and abnormal long term potentiation. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S probably benign Het
Other mutations in Ctnnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Ctnnd2 APN 15 30,647,287 (GRCm39) missense possibly damaging 0.73
IGL01612:Ctnnd2 APN 15 31,005,164 (GRCm39) missense probably damaging 1.00
IGL01923:Ctnnd2 APN 15 30,480,974 (GRCm39) missense probably damaging 0.99
IGL02186:Ctnnd2 APN 15 30,480,939 (GRCm39) missense probably damaging 0.99
IGL02226:Ctnnd2 APN 15 30,847,482 (GRCm39) missense probably benign 0.01
IGL02307:Ctnnd2 APN 15 30,647,357 (GRCm39) missense possibly damaging 0.86
IGL02407:Ctnnd2 APN 15 30,966,914 (GRCm39) missense probably damaging 1.00
IGL02474:Ctnnd2 APN 15 30,669,708 (GRCm39) missense possibly damaging 0.71
IGL02718:Ctnnd2 APN 15 31,027,762 (GRCm39) missense probably damaging 1.00
IGL03249:Ctnnd2 APN 15 30,683,382 (GRCm39) missense probably benign 0.45
IGL03328:Ctnnd2 APN 15 30,921,993 (GRCm39) splice site probably benign
carpe UTSW 15 30,905,966 (GRCm39) missense probably damaging 1.00
diem UTSW 15 30,683,493 (GRCm39) missense possibly damaging 0.85
P0016:Ctnnd2 UTSW 15 30,967,084 (GRCm39) missense probably benign 0.00
R0130:Ctnnd2 UTSW 15 30,922,059 (GRCm39) missense probably damaging 1.00
R0408:Ctnnd2 UTSW 15 30,634,823 (GRCm39) missense probably damaging 1.00
R0611:Ctnnd2 UTSW 15 31,009,230 (GRCm39) missense possibly damaging 0.75
R0894:Ctnnd2 UTSW 15 30,332,301 (GRCm39) splice site probably benign
R1112:Ctnnd2 UTSW 15 30,922,026 (GRCm39) missense probably damaging 1.00
R1459:Ctnnd2 UTSW 15 30,847,445 (GRCm39) missense probably damaging 1.00
R1529:Ctnnd2 UTSW 15 30,887,267 (GRCm39) missense possibly damaging 0.91
R1532:Ctnnd2 UTSW 15 30,922,014 (GRCm39) missense probably damaging 1.00
R1701:Ctnnd2 UTSW 15 30,922,127 (GRCm39) missense probably damaging 1.00
R1807:Ctnnd2 UTSW 15 30,620,017 (GRCm39) missense probably damaging 1.00
R1881:Ctnnd2 UTSW 15 31,005,227 (GRCm39) splice site probably benign
R1960:Ctnnd2 UTSW 15 30,647,257 (GRCm39) missense probably damaging 0.96
R2121:Ctnnd2 UTSW 15 30,669,660 (GRCm39) missense probably damaging 1.00
R3839:Ctnnd2 UTSW 15 31,009,174 (GRCm39) splice site probably null
R3967:Ctnnd2 UTSW 15 30,647,075 (GRCm39) missense possibly damaging 0.81
R3980:Ctnnd2 UTSW 15 30,669,589 (GRCm39) missense probably benign 0.14
R4207:Ctnnd2 UTSW 15 30,972,973 (GRCm39) missense probably damaging 0.99
R4279:Ctnnd2 UTSW 15 30,905,966 (GRCm39) missense probably damaging 1.00
R4498:Ctnnd2 UTSW 15 30,620,020 (GRCm39) missense probably damaging 1.00
R4622:Ctnnd2 UTSW 15 31,009,259 (GRCm39) missense probably benign 0.00
R4622:Ctnnd2 UTSW 15 30,887,315 (GRCm39) missense probably benign 0.17
R4860:Ctnnd2 UTSW 15 30,881,313 (GRCm39) missense probably damaging 1.00
R4860:Ctnnd2 UTSW 15 30,881,313 (GRCm39) missense probably damaging 1.00
R4979:Ctnnd2 UTSW 15 31,009,221 (GRCm39) missense probably damaging 1.00
R5086:Ctnnd2 UTSW 15 30,683,493 (GRCm39) missense possibly damaging 0.85
R5330:Ctnnd2 UTSW 15 30,332,261 (GRCm39) missense probably damaging 1.00
R5459:Ctnnd2 UTSW 15 30,887,334 (GRCm39) missense probably damaging 1.00
R5595:Ctnnd2 UTSW 15 30,669,689 (GRCm39) missense probably benign 0.07
R5809:Ctnnd2 UTSW 15 30,847,523 (GRCm39) missense probably damaging 1.00
R5987:Ctnnd2 UTSW 15 30,683,387 (GRCm39) missense probably benign
R6245:Ctnnd2 UTSW 15 30,905,894 (GRCm39) missense probably damaging 1.00
R6379:Ctnnd2 UTSW 15 30,634,844 (GRCm39) missense probably damaging 1.00
R6737:Ctnnd2 UTSW 15 30,966,980 (GRCm39) nonsense probably null
R6979:Ctnnd2 UTSW 15 30,619,376 (GRCm39) missense probably damaging 0.99
R7133:Ctnnd2 UTSW 15 30,480,995 (GRCm39) missense possibly damaging 0.47
R7179:Ctnnd2 UTSW 15 30,683,510 (GRCm39) missense possibly damaging 0.95
R7267:Ctnnd2 UTSW 15 30,683,501 (GRCm39) missense probably benign 0.13
R7275:Ctnnd2 UTSW 15 30,905,855 (GRCm39) missense possibly damaging 0.94
R7386:Ctnnd2 UTSW 15 30,966,914 (GRCm39) missense probably damaging 1.00
R7649:Ctnnd2 UTSW 15 31,027,630 (GRCm39) missense probably benign 0.11
R7814:Ctnnd2 UTSW 15 31,020,874 (GRCm39) missense probably benign 0.00
R7849:Ctnnd2 UTSW 15 31,027,733 (GRCm39) missense probably damaging 1.00
R7857:Ctnnd2 UTSW 15 30,620,076 (GRCm39) missense probably benign 0.01
R8057:Ctnnd2 UTSW 15 30,847,497 (GRCm39) missense possibly damaging 0.89
R8236:Ctnnd2 UTSW 15 30,647,164 (GRCm39) missense probably benign
R8260:Ctnnd2 UTSW 15 30,634,879 (GRCm39) missense possibly damaging 0.84
R8411:Ctnnd2 UTSW 15 30,647,179 (GRCm39) missense probably benign 0.33
R8802:Ctnnd2 UTSW 15 30,967,022 (GRCm39) missense probably damaging 1.00
R8891:Ctnnd2 UTSW 15 30,620,076 (GRCm39) missense probably benign 0.01
R8907:Ctnnd2 UTSW 15 30,905,873 (GRCm39) missense probably damaging 1.00
R8989:Ctnnd2 UTSW 15 30,669,660 (GRCm39) missense probably damaging 1.00
R9017:Ctnnd2 UTSW 15 30,881,316 (GRCm39) missense probably damaging 0.96
R9035:Ctnnd2 UTSW 15 30,332,162 (GRCm39) missense possibly damaging 0.77
R9061:Ctnnd2 UTSW 15 30,806,884 (GRCm39) missense probably damaging 1.00
R9303:Ctnnd2 UTSW 15 30,967,037 (GRCm39) missense probably damaging 0.99
R9475:Ctnnd2 UTSW 15 30,881,276 (GRCm39) missense probably damaging 1.00
Z1088:Ctnnd2 UTSW 15 30,966,959 (GRCm39) missense probably benign 0.28
Posted On 2015-04-16