Incidental Mutation 'R1459:Ctnnd2'
ID |
161995 |
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 |
039514-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1459 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 30847445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 679
(T679P)
|
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: T679P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240 AA Change: T679P
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: T679P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9071 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
96% (87/91) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
C |
T |
4: 62,450,578 (GRCm39) |
R51W |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,752,920 (GRCm39) |
L557Q |
probably damaging |
Het |
Abcb4 |
T |
C |
5: 8,968,662 (GRCm39) |
F334L |
possibly damaging |
Het |
Adamts14 |
T |
A |
10: 61,034,583 (GRCm39) |
T1102S |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,344,102 (GRCm39) |
Y1719H |
probably damaging |
Het |
Adcyap1 |
T |
C |
17: 93,507,550 (GRCm39) |
|
probably null |
Het |
Ankrd13c |
T |
A |
3: 157,677,947 (GRCm39) |
L219Q |
probably damaging |
Het |
Ano3 |
C |
A |
2: 110,711,174 (GRCm39) |
A97S |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,898,022 (GRCm39) |
N245S |
probably benign |
Het |
Apob |
A |
G |
12: 8,056,047 (GRCm39) |
T1510A |
probably benign |
Het |
Apob |
A |
G |
12: 8,061,937 (GRCm39) |
D3473G |
possibly damaging |
Het |
Arfgap3 |
G |
A |
15: 83,191,138 (GRCm39) |
T12I |
probably benign |
Het |
Bend4 |
A |
G |
5: 67,557,418 (GRCm39) |
V466A |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,749,239 (GRCm39) |
E119K |
probably damaging |
Het |
Capn5 |
G |
T |
7: 97,781,049 (GRCm39) |
R243S |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,679,510 (GRCm39) |
I63V |
probably benign |
Het |
Cd86 |
T |
A |
16: 36,449,350 (GRCm39) |
T16S |
probably benign |
Het |
Cdc42bpb |
A |
G |
12: 111,262,734 (GRCm39) |
|
probably benign |
Het |
Cep20 |
G |
A |
16: 14,122,380 (GRCm39) |
T128I |
possibly damaging |
Het |
Cep95 |
C |
T |
11: 106,708,781 (GRCm39) |
S26L |
probably damaging |
Het |
Cldn19 |
C |
T |
4: 119,112,810 (GRCm39) |
A14V |
probably damaging |
Het |
Cluap1 |
T |
A |
16: 3,755,453 (GRCm39) |
M356K |
probably damaging |
Het |
Coq7 |
C |
T |
7: 118,109,260 (GRCm39) |
G263S |
unknown |
Het |
Dnah10 |
A |
G |
5: 124,820,750 (GRCm39) |
D528G |
possibly damaging |
Het |
Dvl1 |
T |
A |
4: 155,938,476 (GRCm39) |
N133K |
probably damaging |
Het |
Efcab7 |
T |
G |
4: 99,769,744 (GRCm39) |
H550Q |
probably null |
Het |
Fastkd5 |
C |
T |
2: 130,456,717 (GRCm39) |
M624I |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,895,073 (GRCm39) |
V12A |
probably benign |
Het |
Gabarapl1 |
T |
A |
6: 129,515,635 (GRCm39) |
M91K |
possibly damaging |
Het |
Gas7 |
A |
G |
11: 67,552,902 (GRCm39) |
N154S |
probably damaging |
Het |
Gm21814 |
T |
A |
6: 149,483,650 (GRCm39) |
|
noncoding transcript |
Het |
Gnl3 |
G |
A |
14: 30,739,803 (GRCm39) |
R12C |
probably damaging |
Het |
Golga2 |
T |
G |
2: 32,187,807 (GRCm39) |
|
probably null |
Het |
Grk3 |
T |
A |
5: 113,062,878 (GRCm39) |
R656S |
probably benign |
Het |
Gsap |
T |
A |
5: 21,412,236 (GRCm39) |
|
probably benign |
Het |
H60c |
T |
C |
10: 3,210,240 (GRCm39) |
Q103R |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,056,755 (GRCm39) |
S252T |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,869,937 (GRCm39) |
T40S |
probably benign |
Het |
Krtap27-1 |
T |
C |
16: 88,468,302 (GRCm39) |
N81D |
probably benign |
Het |
Lilrb4a |
T |
A |
10: 51,367,683 (GRCm39) |
L75Q |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,313,738 (GRCm39) |
D2331V |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,290,821 (GRCm39) |
E3546D |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,009,893 (GRCm39) |
V9E |
probably damaging |
Het |
Matr3 |
T |
A |
18: 35,717,709 (GRCm39) |
D302E |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,897,979 (GRCm39) |
|
probably null |
Het |
Metap2 |
T |
C |
10: 93,704,811 (GRCm39) |
D272G |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,987,428 (GRCm39) |
D337G |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,219,433 (GRCm39) |
V693A |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 87,985,771 (GRCm39) |
E116G |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,555 (GRCm39) |
M642L |
probably benign |
Het |
Noxa1 |
G |
T |
2: 24,982,558 (GRCm39) |
Q86K |
probably benign |
Het |
Nrap |
T |
C |
19: 56,372,562 (GRCm39) |
T48A |
probably benign |
Het |
Nup160 |
T |
A |
2: 90,520,494 (GRCm39) |
H308Q |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,056,699 (GRCm39) |
L711P |
probably damaging |
Het |
Osbpl6 |
A |
G |
2: 76,385,409 (GRCm39) |
N281S |
probably benign |
Het |
Pcnp |
C |
T |
16: 55,844,703 (GRCm39) |
E66K |
possibly damaging |
Het |
Phf11 |
T |
A |
14: 59,482,227 (GRCm39) |
E175D |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,108,431 (GRCm39) |
L1053S |
probably damaging |
Het |
Plekhh2 |
G |
T |
17: 84,918,203 (GRCm39) |
E1271* |
probably null |
Het |
Ppp2r2b |
T |
A |
18: 42,871,055 (GRCm39) |
Y82F |
probably damaging |
Het |
Prkd3 |
T |
C |
17: 79,278,796 (GRCm39) |
D430G |
probably damaging |
Het |
Prl7d1 |
C |
T |
13: 27,893,240 (GRCm39) |
D224N |
possibly damaging |
Het |
Ptpdc1 |
A |
T |
13: 48,740,173 (GRCm39) |
N419K |
possibly damaging |
Het |
Serinc5 |
T |
A |
13: 92,797,695 (GRCm39) |
|
probably null |
Het |
Sipa1 |
A |
G |
19: 5,701,692 (GRCm39) |
L981P |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,066,489 (GRCm39) |
C383* |
probably null |
Het |
Slc19a1 |
C |
G |
10: 76,878,369 (GRCm39) |
Y301* |
probably null |
Het |
Slc22a14 |
A |
T |
9: 119,052,827 (GRCm39) |
V14E |
possibly damaging |
Het |
Slpi |
C |
A |
2: 164,196,837 (GRCm39) |
C95F |
probably damaging |
Het |
Smurf2 |
G |
A |
11: 106,743,333 (GRCm39) |
H225Y |
possibly damaging |
Het |
Son |
T |
C |
16: 91,452,230 (GRCm39) |
S326P |
possibly damaging |
Het |
Sptb |
T |
A |
12: 76,658,657 (GRCm39) |
K1262M |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,696,714 (GRCm39) |
|
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,687,031 (GRCm39) |
H747Q |
probably damaging |
Het |
Tcn2 |
C |
A |
11: 3,877,516 (GRCm39) |
R44L |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,689,006 (GRCm39) |
R2194C |
probably damaging |
Het |
Tnks2 |
T |
A |
19: 36,822,931 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
T |
11: 60,650,188 (GRCm39) |
I120N |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,201,232 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,205,478 (GRCm39) |
V662A |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,595,048 (GRCm39) |
S3827P |
probably benign |
Het |
Vasn |
T |
A |
16: 4,466,473 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
A |
T |
7: 85,055,908 (GRCm39) |
C743* |
probably null |
Het |
Vmn2r79 |
C |
A |
7: 86,687,002 (GRCm39) |
H794Q |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCAGCCTCTAAGACTCATGTGC -3'
(R):5'- TCAAAGTCACAGAACGAAGTGTCCC -3'
Sequencing Primer
(F):5'- acctcagcagcaagcatc -3'
(R):5'- GAACGAAGTGTCCCTGTACCAG -3'
|
Posted On |
2014-03-14 |