Incidental Mutation 'R7267:Ctnnd2'
ID |
565025 |
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 # |
R7267 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 30683501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 501
(Q501K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081728
AA Change: Q501K
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240 AA Change: Q501K
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: ENSMUST00000226119
AA Change: Q501K
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,916,205 (GRCm39) |
I37T |
probably damaging |
Het |
Ackr2 |
A |
G |
9: 121,737,874 (GRCm39) |
Y83C |
probably damaging |
Het |
Adam19 |
C |
T |
11: 46,012,403 (GRCm39) |
Q300* |
probably null |
Het |
Anxa7 |
C |
T |
14: 20,519,474 (GRCm39) |
A115T |
probably benign |
Het |
Aoc1l3 |
AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC |
AGGCCCAGCC |
6: 48,964,952 (GRCm39) |
|
probably benign |
Het |
Atad2b |
A |
T |
12: 5,077,105 (GRCm39) |
R1109* |
probably null |
Het |
Batf2 |
A |
G |
19: 6,221,396 (GRCm39) |
T69A |
probably benign |
Het |
Best1 |
A |
G |
19: 9,964,177 (GRCm39) |
C428R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,892,980 (GRCm39) |
T973A |
probably benign |
Het |
Bmp2k |
C |
T |
5: 97,216,293 (GRCm39) |
T597I |
unknown |
Het |
Bmpr1a |
G |
A |
14: 34,165,836 (GRCm39) |
P57L |
possibly damaging |
Het |
Camk2d |
A |
T |
3: 126,591,379 (GRCm39) |
H283L |
possibly damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ces1b |
C |
A |
8: 93,806,132 (GRCm39) |
K36N |
possibly damaging |
Het |
Ces2a |
T |
A |
8: 105,465,672 (GRCm39) |
M308K |
probably benign |
Het |
Cyb561d1 |
T |
C |
3: 108,106,629 (GRCm39) |
T197A |
probably benign |
Het |
Dedd2 |
C |
A |
7: 24,918,391 (GRCm39) |
A55S |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,391,643 (GRCm39) |
R684Q |
probably damaging |
Het |
Elovl3 |
A |
G |
19: 46,122,979 (GRCm39) |
Y185C |
probably damaging |
Het |
Fgf3 |
C |
T |
7: 144,392,569 (GRCm39) |
A42V |
probably damaging |
Het |
Gabra5 |
A |
G |
7: 57,140,529 (GRCm39) |
L56P |
probably damaging |
Het |
Gm19410 |
T |
G |
8: 36,281,997 (GRCm39) |
V1860G |
possibly damaging |
Het |
Gm21663 |
G |
T |
5: 26,143,751 (GRCm39) |
N190K |
probably damaging |
Het |
Grm3 |
T |
A |
5: 9,639,581 (GRCm39) |
I155L |
probably benign |
Het |
Hadha |
A |
G |
5: 30,327,755 (GRCm39) |
I495T |
probably damaging |
Het |
Herc4 |
C |
T |
10: 63,109,365 (GRCm39) |
A200V |
possibly damaging |
Het |
Itga3 |
C |
A |
11: 94,967,188 (GRCm39) |
|
probably benign |
Het |
Krt6a |
C |
T |
15: 101,602,289 (GRCm39) |
S132N |
probably benign |
Het |
Lpar1 |
T |
C |
4: 58,486,857 (GRCm39) |
N138S |
possibly damaging |
Het |
Lrrc42 |
T |
A |
4: 107,096,983 (GRCm39) |
T247S |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,813,804 (GRCm39) |
V256E |
probably damaging |
Het |
Map3k4 |
G |
T |
17: 12,490,536 (GRCm39) |
Y298* |
probably null |
Het |
Mars1 |
A |
G |
10: 127,144,455 (GRCm39) |
V195A |
probably benign |
Het |
Mdm4 |
A |
T |
1: 132,922,311 (GRCm39) |
V278E |
probably benign |
Het |
Mdp1 |
A |
G |
14: 55,897,544 (GRCm39) |
V37A |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,199,652 (GRCm39) |
I685T |
probably benign |
Het |
Mobp |
A |
G |
9: 119,996,914 (GRCm39) |
N15S |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,979,320 (GRCm39) |
M435K |
probably benign |
Het |
Nfs1 |
A |
G |
2: 155,965,703 (GRCm39) |
V126A |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,963,909 (GRCm39) |
V480E |
probably damaging |
Het |
Nr2e3 |
G |
A |
9: 59,855,972 (GRCm39) |
S155F |
possibly damaging |
Het |
Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
Or4c124 |
A |
T |
2: 89,156,157 (GRCm39) |
Y122* |
probably null |
Het |
Or51q1c |
A |
G |
7: 103,653,046 (GRCm39) |
H188R |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,098,056 (GRCm39) |
Y366H |
probably damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,555,006 (GRCm39) |
N112S |
possibly damaging |
Het |
Pde11a |
A |
G |
2: 76,168,189 (GRCm39) |
S255P |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,224,268 (GRCm39) |
H745R |
|
Het |
Pkn2 |
A |
T |
3: 142,517,776 (GRCm39) |
S441T |
possibly damaging |
Het |
Pld1 |
A |
C |
3: 28,130,550 (GRCm39) |
H450P |
probably damaging |
Het |
Plekhs1 |
T |
A |
19: 56,459,209 (GRCm39) |
H22Q |
probably damaging |
Het |
Prss44 |
A |
C |
9: 110,645,611 (GRCm39) |
Y285S |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,878,852 (GRCm39) |
E249G |
probably benign |
Het |
Rcsd1 |
A |
T |
1: 165,491,185 (GRCm39) |
S50T |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,505,266 (GRCm39) |
N496Y |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,328,196 (GRCm39) |
M1415V |
probably benign |
Het |
Slc16a8 |
AGGCC |
A |
15: 79,136,125 (GRCm39) |
|
probably null |
Het |
Slc38a4 |
T |
A |
15: 96,903,781 (GRCm39) |
T407S |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,590 (GRCm39) |
I56L |
probably benign |
Het |
Slc6a18 |
T |
G |
13: 73,819,755 (GRCm39) |
I272L |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 42,035,375 (GRCm39) |
L12P |
possibly damaging |
Het |
Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 5,178,218 (GRCm39) |
R4752Q |
probably damaging |
Het |
Tbc1d9 |
C |
A |
8: 83,997,957 (GRCm39) |
H1171Q |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,733,597 (GRCm39) |
V215I |
probably benign |
Het |
Tmem143 |
T |
A |
7: 45,557,598 (GRCm39) |
M208K |
probably benign |
Het |
Tmem63b |
C |
T |
17: 45,977,048 (GRCm39) |
V440I |
probably benign |
Het |
Tnik |
A |
T |
3: 28,700,776 (GRCm39) |
S918C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,733,751 (GRCm39) |
I4508T |
unknown |
Het |
Vav2 |
A |
G |
2: 27,173,334 (GRCm39) |
F497L |
probably damaging |
Het |
Zc3h14 |
G |
A |
12: 98,751,988 (GRCm39) |
R730Q |
probably damaging |
Het |
Zfp560 |
G |
A |
9: 20,259,384 (GRCm39) |
H493Y |
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 |
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'- GTTTCTGTGAGCAGGTCCTC -3'
(R):5'- AAGCAGGCAGTAACAGCTC -3'
Sequencing Primer
(F):5'- CAGGTCCTCAATTTTTTACTTTG -3'
(R):5'- GGCAGTAACAGCTCACAGC -3'
|
Posted On |
2019-06-26 |