Incidental Mutation 'R5809:Ctnnd2'
| ID |
448933 |
| 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 |
| MMRRC Submission |
043394-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5809 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30847523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 705
(S705P)
|
| 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: S705P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: S705P
| 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 damaging
Transcript: ENSMUST00000226119
AA Change: S705P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2765 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (77/78) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,556 (GRCm39) |
S4G |
unknown |
Het |
| AA623943 |
T |
C |
11: 94,703,828 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
T |
A |
11: 9,243,692 (GRCm39) |
S1852T |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,738,540 (GRCm39) |
C305Y |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,820,257 (GRCm39) |
V411A |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,054,270 (GRCm39) |
R269H |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,241,708 (GRCm39) |
G58W |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,385,856 (GRCm39) |
N369S |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,465,311 (GRCm39) |
I289L |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,252,805 (GRCm39) |
T714S |
possibly damaging |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,114,592 (GRCm39) |
L1159Q |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,723,521 (GRCm39) |
V770I |
probably benign |
Het |
| Ccdc148 |
T |
A |
2: 58,713,657 (GRCm39) |
H498L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,101,919 (GRCm39) |
Y179* |
probably null |
Het |
| Cela2a |
T |
A |
4: 141,552,864 (GRCm39) |
T38S |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,809,087 (GRCm39) |
N496K |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,117,151 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,552,526 (GRCm39) |
S524P |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,822,801 (GRCm39) |
S172P |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,212,445 (GRCm39) |
D1232A |
probably benign |
Het |
| Donson |
T |
C |
16: 91,484,738 (GRCm39) |
N9S |
possibly damaging |
Het |
| Gdf9 |
T |
C |
11: 53,324,381 (GRCm39) |
L50P |
probably benign |
Het |
| Gm10300 |
C |
T |
4: 131,802,458 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
A |
G |
19: 11,482,248 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,924 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam |
T |
A |
9: 37,296,101 (GRCm39) |
S417R |
possibly damaging |
Het |
| Hibch |
T |
A |
1: 52,892,859 (GRCm39) |
L23Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,525,358 (GRCm39) |
R3389C |
probably damaging |
Het |
| Hsp90ab1 |
G |
T |
17: 45,881,575 (GRCm39) |
|
probably benign |
Het |
| Hunk |
C |
A |
16: 90,272,791 (GRCm39) |
T365K |
probably damaging |
Het |
| Il12a |
A |
T |
3: 68,602,595 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,477,847 (GRCm39) |
V34A |
probably benign |
Het |
| Intu |
A |
C |
3: 40,634,020 (GRCm39) |
M418L |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,616,192 (GRCm39) |
R460G |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,156,036 (GRCm39) |
S240P |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,699 (GRCm39) |
|
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,905 (GRCm39) |
*310Q |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,860 (GRCm39) |
T25A |
probably benign |
Het |
| Pate6 |
C |
T |
9: 35,700,297 (GRCm39) |
C96Y |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,557,682 (GRCm39) |
S30P |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,082,247 (GRCm39) |
T54S |
probably benign |
Het |
| Pex19 |
T |
C |
1: 171,958,306 (GRCm39) |
V95A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,383,103 (GRCm39) |
I1121V |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,091 (GRCm39) |
I146F |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,104,164 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,735,160 (GRCm39) |
I167N |
probably damaging |
Het |
| Plekhh1 |
A |
T |
12: 79,125,461 (GRCm39) |
I1241F |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,051,774 (GRCm39) |
D148E |
possibly damaging |
Het |
| Pthlh |
T |
C |
6: 147,158,745 (GRCm39) |
I72V |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,513,067 (GRCm39) |
R880Q |
probably benign |
Het |
| Rrp36 |
T |
C |
17: 46,978,932 (GRCm39) |
K209E |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,381,286 (GRCm39) |
V86A |
probably damaging |
Het |
| Sh2d7 |
A |
C |
9: 54,446,860 (GRCm39) |
S37R |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,288,647 (GRCm39) |
V543E |
probably damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,630,296 (GRCm39) |
T117A |
probably benign |
Het |
| Smok2a |
A |
G |
17: 13,445,865 (GRCm39) |
R481G |
possibly damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,699 (GRCm39) |
A126T |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,436,979 (GRCm39) |
W1304C |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,116,524 (GRCm39) |
S909P |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,352,880 (GRCm39) |
K773N |
unknown |
Het |
| Tmem156 |
T |
C |
5: 65,232,950 (GRCm39) |
N140S |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,092,589 (GRCm39) |
I107T |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,153,372 (GRCm39) |
Y161C |
probably damaging |
Het |
| Trappc8 |
C |
T |
18: 20,951,139 (GRCm39) |
A1436T |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,795,855 (GRCm39) |
Y933C |
possibly damaging |
Het |
| Ufm1 |
A |
T |
3: 53,765,303 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,103,931 (GRCm39) |
L725Q |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,345,035 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,946,481 (GRCm39) |
V119M |
probably damaging |
Het |
| Zmat5 |
A |
G |
11: 4,672,431 (GRCm39) |
D16G |
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 |
|
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 |
|
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'- AAAAGAATGGTGCCCACTCAG -3'
(R):5'- GAGCAGTGGGAAATGCCTCTAC -3'
Sequencing Primer
(F):5'- AATGGTGCCCACTCAGTGTCC -3'
(R):5'- GGGAAATGCCTCTACCTCTTCAGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation