Incidental Mutation 'IGL03328:Ctnnd2'
ID |
416768 |
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)
|
Stock # |
IGL03328
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 30921993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081728
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000226119
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,211,355 (GRCm39) |
M1556L |
probably benign |
Het |
Aicda |
T |
G |
6: 122,539,396 (GRCm39) |
D187E |
probably benign |
Het |
Arfgap3 |
A |
C |
15: 83,227,282 (GRCm39) |
F43L |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,508,412 (GRCm39) |
E368G |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,251,401 (GRCm39) |
E33G |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,208,316 (GRCm39) |
K437* |
probably null |
Het |
Brwd1 |
A |
T |
16: 95,803,925 (GRCm39) |
W2082R |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,134,927 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
A |
G |
16: 44,653,882 (GRCm39) |
I226M |
possibly damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,148 (GRCm39) |
E73G |
probably damaging |
Het |
Chaf1a |
T |
G |
17: 56,370,374 (GRCm39) |
F613C |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,639,406 (GRCm39) |
K323N |
probably damaging |
Het |
Coa7 |
A |
G |
4: 108,195,479 (GRCm39) |
D136G |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,306 (GRCm39) |
V1478L |
possibly damaging |
Het |
Cyp4f17 |
T |
G |
17: 32,739,600 (GRCm39) |
M174R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,831,354 (GRCm39) |
D794V |
probably benign |
Het |
Eapp |
A |
G |
12: 54,738,878 (GRCm39) |
S87P |
probably benign |
Het |
Efnb3 |
A |
G |
11: 69,448,031 (GRCm39) |
I137T |
probably damaging |
Het |
Eif4e |
T |
A |
3: 138,259,488 (GRCm39) |
|
probably benign |
Het |
Fam83b |
T |
A |
9: 76,400,324 (GRCm39) |
I260L |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,929,619 (GRCm39) |
T4008A |
probably damaging |
Het |
Fut8 |
A |
T |
12: 77,412,003 (GRCm39) |
R118W |
probably damaging |
Het |
Glt1d1 |
A |
C |
5: 127,734,183 (GRCm39) |
D119A |
probably benign |
Het |
Gm3727 |
T |
A |
14: 7,261,685 (GRCm38) |
*206C |
probably null |
Het |
Gmip |
G |
A |
8: 70,264,261 (GRCm39) |
V174M |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,417,983 (GRCm39) |
|
probably null |
Het |
Haao |
C |
T |
17: 84,154,078 (GRCm39) |
C23Y |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,453,728 (GRCm39) |
V400E |
probably damaging |
Het |
Keg1 |
A |
G |
19: 12,696,461 (GRCm39) |
N215S |
probably damaging |
Het |
Lss |
T |
G |
10: 76,376,785 (GRCm39) |
I334S |
probably damaging |
Het |
Lyn |
A |
C |
4: 3,745,327 (GRCm39) |
E77D |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,210 (GRCm39) |
E1426G |
probably benign |
Het |
Ncapg2 |
A |
G |
12: 116,403,677 (GRCm39) |
E863G |
possibly damaging |
Het |
Ncl |
T |
C |
1: 86,280,319 (GRCm39) |
Y496C |
probably damaging |
Het |
Nefm |
A |
T |
14: 68,358,739 (GRCm39) |
S432T |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,096 (GRCm39) |
Y95C |
possibly damaging |
Het |
Npc1l1 |
C |
A |
11: 6,168,643 (GRCm39) |
E913* |
probably null |
Het |
Nup205 |
T |
C |
6: 35,209,349 (GRCm39) |
L1552P |
probably damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,539 (GRCm39) |
N290D |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,854,199 (GRCm39) |
Y49* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,677 (GRCm39) |
V83D |
probably damaging |
Het |
Or7c70 |
C |
T |
10: 78,683,201 (GRCm39) |
E183K |
probably benign |
Het |
Osm |
A |
C |
11: 4,188,426 (GRCm39) |
I18L |
unknown |
Het |
Otoa |
T |
A |
7: 120,710,217 (GRCm39) |
S254R |
probably damaging |
Het |
Parp1 |
T |
C |
1: 180,427,155 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,551 (GRCm39) |
I1010V |
probably benign |
Het |
Peli2 |
A |
T |
14: 48,490,032 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
G |
8: 110,388,738 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,151,524 (GRCm39) |
|
probably benign |
Het |
Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
Potegl |
A |
T |
2: 23,102,817 (GRCm39) |
Y185F |
possibly damaging |
Het |
Ptpn13 |
A |
T |
5: 103,664,214 (GRCm39) |
T401S |
probably benign |
Het |
Rgs22 |
C |
T |
15: 36,043,350 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
G |
18: 89,061,152 (GRCm39) |
S1107A |
probably benign |
Het |
Scn5a |
G |
T |
9: 119,366,702 (GRCm39) |
N328K |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,217,089 (GRCm39) |
A1325T |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,588,595 (GRCm39) |
E80V |
probably benign |
Het |
Stard7 |
T |
C |
2: 127,134,176 (GRCm39) |
|
probably benign |
Het |
Suco |
G |
T |
1: 161,647,990 (GRCm39) |
P1099T |
probably damaging |
Het |
Syn2 |
G |
T |
6: 115,251,221 (GRCm39) |
C459F |
probably damaging |
Het |
Tas2r117 |
A |
C |
6: 132,780,041 (GRCm39) |
I60L |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,965,150 (GRCm39) |
C445R |
probably damaging |
Het |
Tpsab1 |
T |
A |
17: 25,564,102 (GRCm39) |
D87V |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,536,416 (GRCm39) |
Y158C |
unknown |
Het |
Trpm6 |
A |
T |
19: 18,815,446 (GRCm39) |
E1177D |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,273,499 (GRCm39) |
D771V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,525,220 (GRCm39) |
T293S |
probably damaging |
Het |
|
Other mutations in Ctnnd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
IGL02183:Ctnnd2
|
APN |
15 |
31,020,886 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |