Incidental Mutation 'R4979:Ctnnd2'
| ID |
384703 |
| 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 |
042574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4979 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31009221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1106
(E1106G)
|
| 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: E1106G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: E1106G
| 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: E1081G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227029
|
| Meta Mutation Damage Score |
0.2022 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,220,643 (GRCm39) |
E381K |
probably damaging |
Het |
| Abca1 |
T |
C |
4: 53,085,092 (GRCm39) |
|
probably null |
Het |
| Abca7 |
C |
T |
10: 79,840,617 (GRCm39) |
Q870* |
probably null |
Het |
| Ambp |
C |
T |
4: 63,070,888 (GRCm39) |
V64M |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,212 (GRCm39) |
V1542A |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,287,797 (GRCm39) |
Y168C |
probably benign |
Het |
| Apoa4 |
T |
A |
9: 46,152,803 (GRCm39) |
N29K |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,283,334 (GRCm39) |
T192A |
probably damaging |
Het |
| Atad2b |
G |
T |
12: 5,084,513 (GRCm39) |
D1420Y |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,465,336 (GRCm39) |
W648R |
possibly damaging |
Het |
| Bank1 |
A |
G |
3: 135,960,662 (GRCm39) |
L198P |
probably damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,940 (GRCm39) |
K509E |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,289,739 (GRCm39) |
D1821G |
probably damaging |
Het |
| Ccdc80 |
G |
A |
16: 44,936,650 (GRCm39) |
V692M |
possibly damaging |
Het |
| Ccdc88a |
C |
T |
11: 29,432,133 (GRCm39) |
Q308* |
probably null |
Het |
| Ccl8 |
T |
C |
11: 82,006,973 (GRCm39) |
V62A |
probably damaging |
Het |
| Clspn |
C |
A |
4: 126,472,179 (GRCm39) |
P951Q |
probably damaging |
Het |
| Cngb1 |
T |
A |
8: 95,985,785 (GRCm39) |
I858F |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
| Ctc1 |
C |
T |
11: 68,924,328 (GRCm39) |
A960V |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,302,606 (GRCm39) |
R1766H |
probably damaging |
Het |
| Dipk1a |
A |
T |
5: 108,057,400 (GRCm39) |
L386* |
probably null |
Het |
| Dnajc13 |
G |
T |
9: 104,063,922 (GRCm39) |
N1341K |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| E2f8 |
G |
A |
7: 48,524,918 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,972,967 (GRCm39) |
D91G |
possibly damaging |
Het |
| Fars2 |
A |
G |
13: 36,388,564 (GRCm39) |
R18G |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,816,995 (GRCm39) |
S2486G |
probably benign |
Het |
| Fibin |
C |
T |
2: 110,192,963 (GRCm39) |
D60N |
possibly damaging |
Het |
| Fpgs |
A |
G |
2: 32,577,379 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,765,247 (GRCm39) |
D303G |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,899,049 (GRCm39) |
T812K |
possibly damaging |
Het |
| Gpbar1 |
G |
C |
1: 74,318,404 (GRCm39) |
A216P |
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,507,357 (GRCm39) |
I448T |
probably benign |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Iqce |
G |
T |
5: 140,677,376 (GRCm39) |
D148E |
probably damaging |
Het |
| Iqcg |
T |
A |
16: 32,839,884 (GRCm39) |
E354V |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,226,320 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,206,238 (GRCm39) |
G144S |
probably damaging |
Het |
| Marco |
C |
A |
1: 120,421,954 (GRCm39) |
M83I |
probably benign |
Het |
| Mettl6 |
A |
T |
14: 31,201,752 (GRCm39) |
L185H |
probably damaging |
Het |
| Mppe1 |
C |
T |
18: 67,362,773 (GRCm39) |
G154D |
probably damaging |
Het |
| Mrpl42 |
T |
C |
10: 95,326,237 (GRCm39) |
E85G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,079,921 (GRCm39) |
V5518A |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,759 (GRCm39) |
F121L |
probably benign |
Het |
| Or52p1 |
T |
A |
7: 104,267,812 (GRCm39) |
F317I |
probably null |
Het |
| Or5b105 |
A |
T |
19: 13,080,053 (GRCm39) |
I199N |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,766 (GRCm39) |
C242* |
probably null |
Het |
| Or7d10 |
G |
T |
9: 19,831,655 (GRCm39) |
S50I |
probably benign |
Het |
| Perm1 |
A |
G |
4: 156,302,034 (GRCm39) |
T193A |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,582,652 (GRCm39) |
C172S |
probably damaging |
Het |
| Prr23a3 |
T |
A |
9: 98,747,431 (GRCm39) |
D128E |
possibly damaging |
Het |
| Prss28 |
A |
G |
17: 25,528,711 (GRCm39) |
Y51C |
probably damaging |
Het |
| Psmb1 |
A |
T |
17: 15,696,451 (GRCm39) |
M85K |
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,854,401 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,816,741 (GRCm39) |
D759G |
probably benign |
Het |
| Rcvrn |
G |
A |
11: 67,586,246 (GRCm39) |
G2R |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,334,640 (GRCm39) |
A597T |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sdcbp |
T |
A |
4: 6,378,980 (GRCm39) |
Y22* |
probably null |
Het |
| Sin3a |
T |
C |
9: 57,025,360 (GRCm39) |
F1069L |
probably damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,957,129 (GRCm39) |
V548I |
possibly damaging |
Het |
| Tbc1d22a |
A |
G |
15: 86,275,287 (GRCm39) |
H403R |
probably damaging |
Het |
| Tbr1 |
G |
T |
2: 61,635,593 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,555,985 (GRCm39) |
D65E |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,813,833 (GRCm39) |
S488P |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,695 (GRCm39) |
S22P |
probably damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,069 (GRCm39) |
N44K |
probably benign |
Het |
| Unc79 |
C |
G |
12: 103,078,691 (GRCm39) |
P1619A |
probably benign |
Het |
| Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
| Vhl |
A |
T |
6: 113,601,159 (GRCm39) |
M20L |
unknown |
Het |
| Vmn1r215 |
G |
A |
13: 23,260,064 (GRCm39) |
A35T |
probably benign |
Het |
| Vmn1r222 |
G |
A |
13: 23,416,602 (GRCm39) |
L204F |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,829 (GRCm39) |
H115Q |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,189,640 (GRCm39) |
F340L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTAAGAACAACTGCCCG -3'
(R):5'- TCTCAAGTGTTCTGACAGTCC -3'
Sequencing Primer
(F):5'- AGGAAATCTAAGCGATCCAGG -3'
(R):5'- AAGTGTTCTGACAGTCCTCCAGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation