Incidental Mutation 'R8411:Ctnnd2'
| ID |
652702 |
| 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 |
067881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8411 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30647179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 292
(R292C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226116]
[ENSMUST00000226119]
[ENSMUST00000228282]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081728
AA Change: R292C
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: R292C
| 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: ENSMUST00000226116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226119
AA Change: R292C
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228282
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,285,588 (GRCm39) |
S89P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Adam18 |
A |
T |
8: 25,142,143 (GRCm39) |
I211N |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,290,430 (GRCm39) |
Y478C |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,386,674 (GRCm39) |
I434F |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,286,759 (GRCm39) |
K50N |
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,715,903 (GRCm39) |
Q1397H |
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,597,208 (GRCm39) |
R129Q |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,032 (GRCm39) |
V621A |
probably benign |
Het |
| Catsperz |
A |
T |
19: 6,899,930 (GRCm39) |
L192M |
probably benign |
Het |
| Cd5 |
G |
A |
19: 10,697,585 (GRCm39) |
P465S |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,789,103 (GRCm39) |
E94G |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,982,711 (GRCm39) |
H1392R |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,688,888 (GRCm39) |
I23V |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,216,244 (GRCm39) |
H453L |
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,610,253 (GRCm39) |
D1728Y |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,028,693 (GRCm39) |
K179E |
possibly damaging |
Het |
| Fam3b |
T |
A |
16: 97,283,053 (GRCm39) |
Y74F |
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,555 (GRCm39) |
L64P |
unknown |
Het |
| Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
| Kcnh7 |
T |
A |
2: 62,594,952 (GRCm39) |
H706L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,239 (GRCm39) |
R1067H |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,996,864 (GRCm39) |
H492Q |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,027,605 (GRCm39) |
C716S |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,833,187 (GRCm39) |
Y1474H |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Mmp24 |
G |
T |
2: 155,655,935 (GRCm39) |
V458L |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,303,306 (GRCm39) |
S502I |
|
Het |
| Nfatc1 |
A |
T |
18: 80,710,257 (GRCm39) |
V503D |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,175,807 (GRCm39) |
I133T |
possibly damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,031 (GRCm38) |
Y327C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,186,113 (GRCm39) |
R360* |
probably null |
Het |
| Oog2 |
T |
A |
4: 143,920,743 (GRCm39) |
W59R |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,818,409 (GRCm39) |
T46A |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,974 (GRCm39) |
E96G |
probably damaging |
Het |
| Pcna |
T |
A |
2: 132,093,850 (GRCm39) |
T98S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,729,618 (GRCm39) |
C899Y |
possibly damaging |
Het |
| Phf11d |
T |
C |
14: 59,593,883 (GRCm39) |
N97S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,103,961 (GRCm39) |
W431* |
probably null |
Het |
| Plk4 |
A |
G |
3: 40,767,901 (GRCm39) |
T815A |
probably benign |
Het |
| Pnma2 |
C |
T |
14: 67,153,762 (GRCm39) |
T62I |
possibly damaging |
Het |
| Ppp1r9a |
C |
T |
6: 5,057,568 (GRCm39) |
R548W |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,201 (GRCm39) |
S241G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rplp0 |
A |
T |
5: 115,698,823 (GRCm39) |
K26N |
probably damaging |
Het |
| Sec62 |
A |
C |
3: 30,872,931 (GRCm39) |
E338A |
unknown |
Het |
| Sema6a |
T |
C |
18: 47,382,022 (GRCm39) |
M842V |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,043 (GRCm39) |
V72A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,705,880 (GRCm39) |
N455D |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,108,398 (GRCm39) |
F54Y |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,715,394 (GRCm39) |
V80M |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,514,498 (GRCm39) |
E34G |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,898,154 (GRCm39) |
K469E |
possibly damaging |
Het |
| Them7 |
T |
A |
2: 105,128,190 (GRCm39) |
L57Q |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,849,978 (GRCm39) |
A897V |
probably damaging |
Het |
| Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,831,332 (GRCm39) |
Q1399L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,677,015 (GRCm39) |
E11074* |
probably null |
Het |
| Ubash3b |
G |
A |
9: 40,954,781 (GRCm39) |
A243V |
probably benign |
Het |
| Vash1 |
G |
A |
12: 86,726,952 (GRCm39) |
R64Q |
possibly damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,981 (GRCm39) |
M12L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,562 (GRCm39) |
H645L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,722 (GRCm39) |
I697K |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,126 (GRCm39) |
I704T |
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 |
|
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 |
|
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'- TCTTGGAACTCGGAGCAGAC -3'
(R):5'- TGCTTGCTGTACTGCTCAGAC -3'
Sequencing Primer
(F):5'- AAGTTGTCTTCTGCAGCCG -3'
(R):5'- TGTACTGCTCAGACGCGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation