Incidental Mutation 'R7386:Ctnnd2'
| ID |
573121 |
| 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 |
045468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,208 (GRCm39) |
M2K |
unknown |
Het |
| Ablim3 |
T |
C |
18: 61,955,065 (GRCm39) |
D308G |
probably damaging |
Het |
| Adamts17 |
A |
T |
7: 66,618,597 (GRCm39) |
K370N |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,784 (GRCm39) |
Y435C |
probably damaging |
Het |
| Adgb |
A |
T |
10: 10,253,693 (GRCm39) |
F1216I |
possibly damaging |
Het |
| Akr1a1 |
G |
A |
4: 116,498,251 (GRCm39) |
T98I |
probably damaging |
Het |
| Alyref2 |
G |
T |
1: 171,331,101 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,658,079 (GRCm39) |
H168Q |
unknown |
Het |
| Bnc1 |
A |
C |
7: 81,624,240 (GRCm39) |
L329R |
possibly damaging |
Het |
| Btaf1 |
G |
A |
19: 36,935,782 (GRCm39) |
A191T |
probably benign |
Het |
| Carmil3 |
T |
G |
14: 55,735,204 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
C |
A |
16: 44,610,211 (GRCm39) |
D143E |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,699,507 (GRCm39) |
H98R |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,205,831 (GRCm39) |
Q3346L |
probably damaging |
Het |
| Cpne4 |
T |
A |
9: 104,749,939 (GRCm39) |
V81E |
possibly damaging |
Het |
| Ctsj |
A |
T |
13: 61,148,373 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ddhd2 |
G |
T |
8: 26,244,318 (GRCm39) |
R103S |
possibly damaging |
Het |
| Depdc5 |
A |
G |
5: 33,085,280 (GRCm39) |
T700A |
probably benign |
Het |
| Dhx57 |
A |
C |
17: 80,575,006 (GRCm39) |
D657E |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,713,965 (GRCm39) |
G1678S |
unknown |
Het |
| Dnajb1 |
A |
G |
8: 84,336,932 (GRCm39) |
D234G |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,174,983 (GRCm39) |
V431M |
possibly damaging |
Het |
| Evi5 |
C |
A |
5: 107,957,689 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
T |
C |
13: 31,090,646 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
T |
C |
10: 42,073,356 (GRCm39) |
D387G |
probably benign |
Het |
| Gda |
A |
G |
19: 21,387,250 (GRCm39) |
I325T |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,375,790 (GRCm39) |
S1362P |
probably damaging |
Het |
| Klf10 |
G |
T |
15: 38,297,193 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,375,723 (GRCm39) |
Y35H |
probably damaging |
Het |
| Mill2 |
A |
G |
7: 18,592,215 (GRCm39) |
T279A |
probably benign |
Het |
| Ncaph2 |
G |
A |
15: 89,254,459 (GRCm39) |
W386* |
probably null |
Het |
| Nploc4 |
A |
T |
11: 120,299,707 (GRCm39) |
S338T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,775 (GRCm39) |
S261G |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,227 (GRCm39) |
F183S |
possibly damaging |
Het |
| Or5al1 |
A |
G |
2: 85,989,874 (GRCm39) |
V280A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,677 (GRCm39) |
M1K |
probably null |
Het |
| Palld |
A |
G |
8: 61,985,086 (GRCm39) |
F1060L |
unknown |
Het |
| Pfas |
C |
G |
11: 68,894,600 (GRCm39) |
V22L |
probably benign |
Het |
| Pygo2 |
T |
G |
3: 89,340,128 (GRCm39) |
F175L |
probably benign |
Het |
| Rnf2 |
T |
C |
1: 151,347,131 (GRCm39) |
E316G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,657,772 (GRCm39) |
M642K |
probably damaging |
Het |
| Saa3 |
A |
G |
7: 46,364,347 (GRCm39) |
C60R |
unknown |
Het |
| Saxo5 |
A |
G |
8: 3,537,079 (GRCm39) |
K475R |
probably benign |
Het |
| Scap |
A |
G |
9: 110,202,237 (GRCm39) |
T202A |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,370,894 (GRCm39) |
D562V |
probably damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,010 (GRCm39) |
V163E |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,539 (GRCm39) |
H850Y |
possibly damaging |
Het |
| Spef1l |
A |
T |
7: 139,555,965 (GRCm39) |
C225* |
probably null |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,908,585 (GRCm39) |
Y533H |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,893,412 (GRCm39) |
S923P |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,640,990 (GRCm39) |
K1054E |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,612,780 (GRCm39) |
C313S |
probably benign |
Het |
| Top6bl |
G |
A |
19: 4,713,586 (GRCm39) |
R285* |
probably null |
Het |
| Tpm1 |
T |
C |
9: 66,935,449 (GRCm39) |
I284M |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,964,064 (GRCm39) |
L722H |
possibly damaging |
Het |
| Trub2 |
T |
G |
2: 29,676,607 (GRCm39) |
Q41P |
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,514 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
G |
A |
6: 47,835,884 (GRCm39) |
V148I |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,981 (GRCm39) |
E202G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,013,622 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
A |
7: 6,308,949 (GRCm39) |
I539N |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,818,369 (GRCm39) |
C541S |
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 |
|
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 |
|
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'- GGACCTGAGCATACACAGTG -3'
(R):5'- CAACTTCTCGATGCCACCAG -3'
Sequencing Primer
(F):5'- CCTGAGCATACACAGTGTGGTG -3'
(R):5'- GCCACCAGCATCCCGTAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation