Incidental Mutation 'IGL02407:Ctnnd2'
| ID |
292145 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30966914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 955
(M955K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080427
(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: M955K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: M955K
| 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: M930K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228332
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,645,575 (GRCm39) |
W1040* |
probably null |
Het |
| Adgrv1 |
C |
A |
13: 81,627,789 (GRCm39) |
A3691S |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,718,295 (GRCm39) |
Y345* |
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,069,823 (GRCm39) |
Y496* |
probably null |
Het |
| Ash1l |
T |
C |
3: 88,979,855 (GRCm39) |
V2793A |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,668,853 (GRCm39) |
D575E |
probably benign |
Het |
| Ceacam20 |
G |
T |
7: 19,704,332 (GRCm39) |
V128F |
probably benign |
Het |
| Cers4 |
A |
T |
8: 4,570,306 (GRCm39) |
K204* |
probably null |
Het |
| Cog1 |
T |
C |
11: 113,544,852 (GRCm39) |
Y345H |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,272 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
A |
T |
1: 24,351,453 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
T |
5: 145,388,652 (GRCm39) |
M275K |
probably damaging |
Het |
| Degs2 |
T |
G |
12: 108,658,254 (GRCm39) |
T242P |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,001 (GRCm39) |
V612A |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,398,733 (GRCm39) |
F45I |
probably damaging |
Het |
| Exoc1 |
A |
C |
5: 76,693,193 (GRCm39) |
N360H |
probably damaging |
Het |
| Fam221b |
A |
T |
4: 43,666,309 (GRCm39) |
S101T |
possibly damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,909 (GRCm39) |
N393K |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,812 (GRCm39) |
F89L |
probably benign |
Het |
| Herc4 |
C |
A |
10: 63,142,203 (GRCm39) |
T668K |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,525,874 (GRCm39) |
V259I |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,967,983 (GRCm39) |
D397E |
probably damaging |
Het |
| Ift80 |
G |
T |
3: 68,805,869 (GRCm39) |
D724E |
probably benign |
Het |
| Igkv3-10 |
T |
C |
6: 70,550,223 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,842,678 (GRCm39) |
A75S |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,938,769 (GRCm39) |
V76M |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Lgals8 |
A |
G |
13: 12,469,699 (GRCm39) |
W87R |
probably benign |
Het |
| Mccc2 |
G |
A |
13: 100,127,816 (GRCm39) |
P96L |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,587,531 (GRCm39) |
D443A |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,008 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,281 (GRCm39) |
V230A |
probably benign |
Het |
| Nif3l1 |
G |
T |
1: 58,496,956 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,923 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,128 (GRCm39) |
Y169N |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,710,635 (GRCm39) |
I1529T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,279,915 (GRCm39) |
I219F |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,424,836 (GRCm39) |
R242W |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,379,480 (GRCm39) |
D255E |
unknown |
Het |
| Rapgef6 |
G |
T |
11: 54,567,181 (GRCm39) |
D1121Y |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,585,303 (GRCm39) |
H2761L |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,810,042 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,510,065 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,826,777 (GRCm39) |
S172G |
probably benign |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,821,534 (GRCm39) |
M496K |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,247,340 (GRCm39) |
V564D |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,430,576 (GRCm39) |
I162T |
probably benign |
Het |
| Tchhl1 |
A |
T |
3: 93,378,634 (GRCm39) |
N446I |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,584 (GRCm39) |
H211Q |
probably damaging |
Het |
| Trim3 |
T |
C |
7: 105,262,218 (GRCm39) |
N586S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,868,869 (GRCm39) |
E507G |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,020,523 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,316 (GRCm39) |
K310* |
probably null |
Het |
| Unc13a |
T |
A |
8: 72,101,586 (GRCm39) |
N1022Y |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,228 (GRCm39) |
N38Y |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,770 (GRCm39) |
I161F |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,243,108 (GRCm39) |
M25T |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,795 (GRCm39) |
R130Q |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,802 (GRCm39) |
S724G |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation