Incidental Mutation 'R1529:Ctnnd2'
| ID |
166494 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R1529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30887267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 765
(R765G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081728
AA Change: R765G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: R765G
| 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 |
possibly damaging
Transcript: ENSMUST00000226119
AA Change: R765G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,768,533 (GRCm39) |
I21T |
probably benign |
Het |
| Adam11 |
T |
C |
11: 102,665,939 (GRCm39) |
|
probably null |
Het |
| Amd1 |
A |
T |
10: 40,166,501 (GRCm39) |
M194K |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,989,547 (GRCm39) |
F793C |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,488,970 (GRCm39) |
R1292* |
probably null |
Het |
| Arhgef5 |
C |
A |
6: 43,256,449 (GRCm39) |
H1186N |
probably damaging |
Het |
| Atad1 |
A |
G |
19: 32,684,321 (GRCm39) |
F26L |
probably benign |
Het |
| Atg2b |
C |
T |
12: 105,627,392 (GRCm39) |
V532I |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,645,726 (GRCm39) |
F943L |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,740 (GRCm39) |
L21F |
possibly damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,592,241 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cimip3 |
G |
A |
17: 47,724,815 (GRCm39) |
S102L |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,320 (GRCm39) |
D202E |
probably benign |
Het |
| Crim1 |
A |
C |
17: 78,675,383 (GRCm39) |
K864T |
probably benign |
Het |
| Ddx10 |
T |
A |
9: 53,028,499 (GRCm39) |
R802* |
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,216,441 (GRCm39) |
F1152L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,415,080 (GRCm39) |
L659P |
probably damaging |
Het |
| Dzank1 |
A |
G |
2: 144,324,108 (GRCm39) |
F577L |
probably benign |
Het |
| Eci3 |
T |
C |
13: 35,140,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,832,701 (GRCm39) |
|
probably null |
Het |
| Ep400 |
C |
A |
5: 110,887,311 (GRCm39) |
V591L |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,420,170 (GRCm39) |
N569S |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,426,631 (GRCm39) |
V229E |
probably damaging |
Het |
| Gna15 |
T |
A |
10: 81,345,176 (GRCm39) |
I230F |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,031,250 (GRCm39) |
V281A |
probably benign |
Het |
| Hebp2 |
G |
A |
10: 18,421,509 (GRCm39) |
A12V |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,000,989 (GRCm39) |
D1254G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,776,564 (GRCm39) |
S459A |
probably benign |
Het |
| Hnrnpl |
T |
A |
7: 28,513,348 (GRCm39) |
N149K |
possibly damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,635 (GRCm39) |
S115C |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,578,766 (GRCm39) |
D261E |
probably benign |
Het |
| Ifnab |
T |
C |
4: 88,609,292 (GRCm39) |
D58G |
possibly damaging |
Het |
| Itfg1 |
T |
C |
8: 86,537,243 (GRCm39) |
T195A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,324,459 (GRCm39) |
|
probably null |
Het |
| Iws1 |
A |
G |
18: 32,213,334 (GRCm39) |
D254G |
probably benign |
Het |
| Kl |
C |
A |
5: 150,912,406 (GRCm39) |
D718E |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,790,784 (GRCm39) |
I154M |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,353,526 (GRCm39) |
D578G |
probably damaging |
Het |
| Lss |
T |
G |
10: 76,372,123 (GRCm39) |
Y159* |
probably null |
Het |
| Mab21l1 |
C |
A |
3: 55,691,254 (GRCm39) |
Y280* |
probably null |
Het |
| Maf |
A |
T |
8: 116,419,909 (GRCm39) |
S378T |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,287,716 (GRCm39) |
V59I |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,902,895 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
A |
T |
7: 18,691,479 (GRCm39) |
N139Y |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 91,013,358 (GRCm39) |
D434Y |
probably damaging |
Het |
| Nvl |
C |
T |
1: 180,936,724 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or51g2 |
A |
G |
7: 102,623,086 (GRCm39) |
Y38H |
probably damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,696 (GRCm39) |
T272A |
probably benign |
Het |
| Or8k18 |
A |
T |
2: 86,085,585 (GRCm39) |
Y151N |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,677 (GRCm39) |
V214A |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,094,871 (GRCm39) |
Y255C |
probably damaging |
Het |
| Pcyt1a |
G |
A |
16: 32,270,611 (GRCm39) |
E27K |
possibly damaging |
Het |
| Pex6 |
A |
T |
17: 47,024,990 (GRCm39) |
T348S |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,681,597 (GRCm39) |
I251T |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,755 (GRCm39) |
I490T |
probably damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,672,534 (GRCm39) |
L56Q |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,760,971 (GRCm39) |
T434A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,711,998 (GRCm39) |
N1632S |
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,711 (GRCm39) |
V151M |
probably damaging |
Het |
| Rpain |
G |
C |
11: 70,865,741 (GRCm39) |
E169Q |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,227 (GRCm39) |
V124D |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc12a1 |
C |
T |
2: 125,032,215 (GRCm39) |
T622I |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,029,428 (GRCm39) |
V67D |
probably damaging |
Het |
| Slc41a3 |
G |
T |
6: 90,621,198 (GRCm39) |
V387L |
probably damaging |
Het |
| Slitrk1 |
T |
A |
14: 109,150,709 (GRCm39) |
M1L |
probably benign |
Het |
| Stat4 |
T |
C |
1: 52,050,952 (GRCm39) |
W4R |
probably damaging |
Het |
| Tas2r126 |
A |
G |
6: 42,411,502 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,953 (GRCm39) |
C64R |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,606,440 (GRCm39) |
S505G |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,566,978 (GRCm39) |
V1506A |
probably benign |
Het |
| Tmem9b |
A |
C |
7: 109,336,156 (GRCm39) |
S163A |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,139,519 (GRCm39) |
S669L |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,560,220 (GRCm39) |
I641K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,565,711 (GRCm39) |
A28214T |
probably damaging |
Het |
| Utp11 |
G |
A |
4: 124,577,032 (GRCm39) |
A113V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,902 (GRCm39) |
I66N |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,887,206 (GRCm39) |
E572G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCATGACTGGCGTTTGTTGAAG -3'
(R):5'- AGCTGTGAGTGTGTCACATCACC -3'
Sequencing Primer
(F):5'- GATCATAGGACCTTCCAAGCTTATC -3'
(R):5'- AGTGTGTCACATCACCTGGTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation