Incidental Mutation 'R6245:Ctnnd2'
| ID |
505551 |
| 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 |
044403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30905894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 847
(L847P)
|
| 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: L847P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: L847P
| 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: L847P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,026,249 (GRCm39) |
I937T |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,836,403 (GRCm39) |
N720K |
probably benign |
Het |
| Akr1c21 |
T |
G |
13: 4,625,231 (GRCm39) |
V54G |
possibly damaging |
Het |
| Alpi |
G |
T |
1: 87,028,556 (GRCm39) |
D111E |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,253,516 (GRCm39) |
T219M |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,373,797 (GRCm39) |
E780V |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,846,864 (GRCm39) |
S244P |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,388,235 (GRCm39) |
W737R |
probably damaging |
Het |
| Chdh |
T |
A |
14: 29,757,262 (GRCm39) |
V395D |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,845,665 (GRCm39) |
D366Y |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,207,902 (GRCm39) |
Y218H |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,770,051 (GRCm39) |
N264I |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,428,545 (GRCm39) |
T382P |
possibly damaging |
Het |
| Dcaf8 |
A |
T |
1: 171,993,434 (GRCm39) |
M1L |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,734,994 (GRCm39) |
F52I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,845,864 (GRCm39) |
N32S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,675,834 (GRCm39) |
Y1542F |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,240,063 (GRCm39) |
S852N |
possibly damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,095,828 (GRCm39) |
L552Q |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,563,245 (GRCm39) |
M421V |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,832,043 (GRCm39) |
H36P |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,325,042 (GRCm39) |
|
probably null |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Intu |
C |
A |
3: 40,629,756 (GRCm39) |
T362K |
probably damaging |
Het |
| Jaml |
C |
T |
9: 45,009,217 (GRCm39) |
T248I |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,163 (GRCm39) |
S176C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,704 (GRCm39) |
L140P |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,351,891 (GRCm39) |
K957R |
probably damaging |
Het |
| Klc4 |
T |
A |
17: 46,947,605 (GRCm39) |
I366F |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,398 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,449 (GRCm39) |
D151G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,017,821 (GRCm39) |
A689E |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Msmp |
T |
C |
4: 43,583,909 (GRCm39) |
Y48C |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,086 (GRCm39) |
N567S |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,342,653 (GRCm39) |
Y748H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,368,307 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or2p2 |
T |
A |
13: 21,256,860 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,404,992 (GRCm39) |
F176I |
possibly damaging |
Het |
| Or5w15 |
G |
C |
2: 87,568,240 (GRCm39) |
Q143E |
possibly damaging |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,222 (GRCm39) |
D633E |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,207 (GRCm39) |
V734M |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,141,374 (GRCm39) |
Y21H |
unknown |
Het |
| Ptk2b |
G |
T |
14: 66,400,515 (GRCm39) |
P767T |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,051,989 (GRCm39) |
Y1424H |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,534,043 (GRCm39) |
Q118L |
probably benign |
Het |
| Selenop |
A |
G |
15: 3,304,216 (GRCm39) |
S21G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,001,677 (GRCm39) |
S1132N |
unknown |
Het |
| Slf1 |
A |
G |
13: 77,232,502 (GRCm39) |
L534P |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,013 (GRCm39) |
H596L |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,850,901 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,967 (GRCm39) |
I59N |
probably damaging |
Het |
| Tjp3 |
G |
A |
10: 81,113,110 (GRCm39) |
T580I |
probably benign |
Het |
| Tmem154 |
C |
T |
3: 84,591,603 (GRCm39) |
T51M |
possibly damaging |
Het |
| Tmem8b |
G |
A |
4: 43,690,246 (GRCm39) |
V894I |
probably benign |
Het |
| Trbv20 |
A |
T |
6: 41,165,840 (GRCm39) |
L88F |
possibly damaging |
Het |
| Tssk2 |
A |
C |
16: 17,716,812 (GRCm39) |
I72L |
possibly damaging |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,829 (GRCm39) |
F434I |
possibly damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,195,733 (GRCm39) |
N471S |
probably damaging |
Het |
| Vmn2r94 |
C |
G |
17: 18,478,385 (GRCm39) |
G121R |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,055,505 (GRCm39) |
S245P |
probably damaging |
Het |
| Zbtb42 |
A |
G |
12: 112,645,969 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,592 (GRCm39) |
V657A |
possibly damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,263 (GRCm39) |
C288* |
probably null |
Het |
| Zfp988 |
T |
A |
4: 147,416,470 (GRCm39) |
C301* |
probably null |
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 |
|
|
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'- CATCGATTTTCAGCAGCCACTG -3'
(R):5'- AGAATTGCATTTCGTCGAACCTAC -3'
Sequencing Primer
(F):5'- AGCCACTGCAATGCCTG -3'
(R):5'- CGTCGAACCTACACTTGTATCG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation