Incidental Mutation 'R8057:Ctnnd2'
ID |
619477 |
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 |
067494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8057 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30847497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 696
(D696G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081728
AA Change: D696G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240 AA Change: D696G
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 |
possibly damaging
Transcript: ENSMUST00000226119
AA Change: D696G
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.0841 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (81/81) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
T |
C |
1: 159,902,826 (GRCm39) |
L32P |
probably damaging |
Het |
4930563M21Rik |
T |
C |
9: 55,916,564 (GRCm39) |
T38A |
unknown |
Het |
Abcb6 |
T |
C |
1: 75,151,002 (GRCm39) |
N563D |
probably damaging |
Het |
Ak4 |
T |
C |
4: 101,317,850 (GRCm39) |
F140S |
probably damaging |
Het |
Arhgap27 |
T |
A |
11: 103,229,519 (GRCm39) |
R296S |
probably damaging |
Het |
Atxn7l1 |
A |
C |
12: 33,376,001 (GRCm39) |
K98N |
probably damaging |
Het |
Bex6 |
G |
T |
16: 32,005,224 (GRCm39) |
D11Y |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,228,489 (GRCm39) |
D781G |
probably damaging |
Het |
Capn7 |
A |
G |
14: 31,092,936 (GRCm39) |
D800G |
probably benign |
Het |
Carmil2 |
G |
A |
8: 106,419,008 (GRCm39) |
V716I |
probably benign |
Het |
Cdk5 |
C |
A |
5: 24,625,782 (GRCm39) |
D144Y |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,880,925 (GRCm39) |
|
probably benign |
Het |
Chd5 |
T |
A |
4: 152,450,829 (GRCm39) |
L651Q |
probably damaging |
Het |
Cimap1d |
T |
A |
10: 79,475,835 (GRCm39) |
H243L |
probably damaging |
Het |
Clcn7 |
C |
T |
17: 25,368,233 (GRCm39) |
Q261* |
probably null |
Het |
Cntnap2 |
T |
A |
6: 46,324,079 (GRCm39) |
F576Y |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,925,263 (GRCm39) |
G815D |
unknown |
Het |
Col4a4 |
T |
A |
1: 82,501,591 (GRCm39) |
R387S |
unknown |
Het |
Cse1l |
T |
A |
2: 166,781,845 (GRCm39) |
V663D |
probably damaging |
Het |
Csf2rb2 |
G |
T |
15: 78,169,206 (GRCm39) |
Q650K |
probably damaging |
Het |
Dnah7c |
T |
A |
1: 46,728,112 (GRCm39) |
C2937S |
possibly damaging |
Het |
Epha10 |
A |
T |
4: 124,796,476 (GRCm39) |
Q395L |
|
Het |
Fam167a |
T |
A |
14: 63,689,769 (GRCm39) |
V22E |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gabra4 |
A |
G |
5: 71,781,295 (GRCm39) |
I372T |
probably benign |
Het |
Gpt |
A |
G |
15: 76,580,972 (GRCm39) |
|
probably benign |
Het |
H2-K2 |
C |
T |
17: 34,215,833 (GRCm39) |
G336D |
possibly damaging |
Het |
Hapstr1 |
C |
T |
16: 8,648,232 (GRCm39) |
|
probably benign |
Het |
Hoxd8 |
T |
C |
2: 74,535,070 (GRCm39) |
|
probably null |
Het |
Ilrun |
C |
T |
17: 27,986,863 (GRCm39) |
A288T |
unknown |
Het |
Kdm5d |
T |
G |
Y: 927,355 (GRCm39) |
D658E |
possibly damaging |
Het |
Krt25 |
G |
A |
11: 99,208,169 (GRCm39) |
T353M |
probably benign |
Het |
Lonp2 |
T |
C |
8: 87,440,717 (GRCm39) |
L778P |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,875 (GRCm39) |
Q723* |
probably null |
Het |
Mak |
T |
A |
13: 41,202,813 (GRCm39) |
I212F |
probably damaging |
Het |
Mastl |
T |
A |
2: 23,023,566 (GRCm39) |
R386W |
possibly damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,195,673 (GRCm39) |
I697T |
possibly damaging |
Het |
Nek5 |
G |
A |
8: 22,578,922 (GRCm39) |
T415I |
probably benign |
Het |
Neu3 |
T |
A |
7: 99,463,435 (GRCm39) |
N96I |
probably benign |
Het |
Nxph2 |
T |
C |
2: 23,290,107 (GRCm39) |
V153A |
possibly damaging |
Het |
Or10a3 |
A |
T |
7: 108,480,571 (GRCm39) |
F81I |
probably damaging |
Het |
Or5b102 |
G |
A |
19: 13,040,638 (GRCm39) |
|
probably benign |
Het |
Or8b4 |
A |
G |
9: 37,830,460 (GRCm39) |
D169G |
probably benign |
Het |
Otogl |
T |
C |
10: 107,644,476 (GRCm39) |
T1257A |
probably benign |
Het |
Pcdh10 |
G |
A |
3: 45,333,694 (GRCm39) |
V3M |
probably benign |
Het |
Pitpnm1 |
G |
A |
19: 4,162,145 (GRCm39) |
R1017Q |
probably null |
Het |
Plcb3 |
A |
C |
19: 6,932,463 (GRCm39) |
H1065Q |
probably benign |
Het |
Plcb3 |
A |
T |
19: 6,936,267 (GRCm39) |
M752K |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,605,557 (GRCm39) |
E1449G |
probably benign |
Het |
Plekha4 |
T |
A |
7: 45,198,695 (GRCm39) |
C573S |
probably benign |
Het |
Plin2 |
T |
C |
4: 86,575,638 (GRCm39) |
I304V |
possibly damaging |
Het |
Pnp2 |
G |
A |
14: 51,201,838 (GRCm39) |
V275I |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,908,644 (GRCm39) |
A490T |
possibly damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,883,354 (GRCm39) |
F56S |
probably damaging |
Het |
Ptk2 |
GA |
G |
15: 73,170,048 (GRCm39) |
|
probably null |
Het |
Rb1cc1 |
C |
A |
1: 6,315,443 (GRCm39) |
R473S |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Rdx |
T |
C |
9: 51,976,946 (GRCm39) |
V65A |
probably damaging |
Het |
Rpl27rt |
T |
C |
18: 34,870,582 (GRCm39) |
F39L |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,540,055 (GRCm39) |
|
probably null |
Het |
Samd5 |
C |
T |
10: 9,550,641 (GRCm39) |
V23M |
probably damaging |
Het |
Scn9a |
T |
G |
2: 66,345,774 (GRCm39) |
R1117S |
probably benign |
Het |
Scrn1 |
T |
A |
6: 54,497,758 (GRCm39) |
I278L |
probably benign |
Het |
Sec31b |
G |
T |
19: 44,507,804 (GRCm39) |
P747T |
probably damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,195,269 (GRCm39) |
V823E |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,400,619 (GRCm39) |
N201S |
probably damaging |
Het |
Slc30a3 |
C |
A |
5: 31,247,395 (GRCm39) |
|
probably benign |
Het |
Snx31 |
C |
A |
15: 36,523,606 (GRCm39) |
V359F |
probably damaging |
Het |
Sstr2 |
A |
G |
11: 113,515,099 (GRCm39) |
E6G |
probably benign |
Het |
Stc2 |
C |
A |
11: 31,317,806 (GRCm39) |
E72* |
probably null |
Het |
Tead1 |
C |
T |
7: 112,358,721 (GRCm39) |
P11L |
probably benign |
Het |
Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
Tmem63c |
A |
T |
12: 87,118,972 (GRCm39) |
K301* |
probably null |
Het |
Tns3 |
G |
C |
11: 8,442,773 (GRCm39) |
A530G |
probably benign |
Het |
Trat1 |
T |
C |
16: 48,562,600 (GRCm39) |
D70G |
probably damaging |
Het |
Trex1 |
T |
A |
9: 108,887,397 (GRCm39) |
E198V |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,570,072 (GRCm39) |
R26940S |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,867,835 (GRCm39) |
K34R |
possibly damaging |
Het |
Vps13d |
A |
C |
4: 144,701,753 (GRCm39) |
M4376R |
|
Het |
Zfp157 |
C |
A |
5: 138,454,336 (GRCm39) |
T178K |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,710,692 (GRCm39) |
V805D |
possibly 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 |
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'- AAAAGAATGGTGCCCACTCAGTG -3'
(R):5'- AGAGCAGTGGGAAATGCCTC -3'
Sequencing Primer
(F):5'- ACTCAGTGTCCCTCCTTGTG -3'
(R):5'- AGTGGGAAATGCCTCTACCTC -3'
|
Posted On |
2020-01-23 |