Incidental Mutation 'R1532:Ctnnd2'
| ID |
166689 |
| 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 |
039571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1532 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30922014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 880
(I880T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(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: I905T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: I905T
| 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: I880T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,166,302 (GRCm39) |
H394N |
probably benign |
Het |
| Ahrr |
A |
G |
13: 74,361,826 (GRCm39) |
S558P |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,499,919 (GRCm39) |
N1184S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,476,696 (GRCm39) |
C14* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,736,718 (GRCm39) |
D187G |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,337 (GRCm39) |
T363A |
probably benign |
Het |
| Atxn1 |
A |
T |
13: 45,720,386 (GRCm39) |
L503Q |
possibly damaging |
Het |
| Babam1 |
A |
G |
8: 71,852,277 (GRCm39) |
D155G |
possibly damaging |
Het |
| Bbs9 |
A |
G |
9: 22,798,945 (GRCm39) |
T858A |
probably benign |
Het |
| Cacna1g |
C |
A |
11: 94,334,157 (GRCm39) |
G828V |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,380,405 (GRCm39) |
T392A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,289,689 (GRCm39) |
V469A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,150,110 (GRCm39) |
N2576K |
probably damaging |
Het |
| Coro2b |
A |
G |
9: 62,396,705 (GRCm39) |
Y18H |
probably damaging |
Het |
| Crispld2 |
G |
T |
8: 120,750,311 (GRCm39) |
K238N |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,292,472 (GRCm39) |
C3237F |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,771,171 (GRCm39) |
M519V |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,350,753 (GRCm39) |
C106S |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
C |
8: 120,304,162 (GRCm39) |
F67L |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,175,204 (GRCm39) |
L1334R |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,152,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,742,256 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
A |
G |
2: 150,600,670 (GRCm39) |
Q126R |
probably benign |
Het |
| Entpd7 |
C |
G |
19: 43,679,516 (GRCm39) |
P23R |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,366,541 (GRCm39) |
I970V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,861,855 (GRCm39) |
H2163L |
probably damaging |
Het |
| Gse1 |
C |
G |
8: 121,294,949 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,999,301 (GRCm39) |
V300A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,214 (GRCm39) |
D259V |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,645,673 (GRCm39) |
S453P |
probably damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,652 (GRCm39) |
T163A |
probably benign |
Het |
| Igbp1b |
T |
A |
6: 138,635,442 (GRCm39) |
M1L |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,781,456 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,655,238 (GRCm39) |
Q249* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,492,833 (GRCm39) |
D153G |
probably null |
Het |
| Mllt10 |
G |
A |
2: 18,097,646 (GRCm39) |
|
probably null |
Het |
| Mpl |
C |
T |
4: 118,305,765 (GRCm39) |
G420E |
possibly damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,230,557 (GRCm39) |
T215S |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,994,656 (GRCm39) |
Q1179* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,635,733 (GRCm39) |
H278R |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,805,983 (GRCm39) |
I136V |
probably benign |
Het |
| Or52e18 |
T |
C |
7: 104,609,472 (GRCm39) |
I156V |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,639 (GRCm39) |
Y288C |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,934,771 (GRCm39) |
V353M |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,248,817 (GRCm39) |
M589K |
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,144,969 (GRCm39) |
G859V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,625 (GRCm39) |
T3561I |
probably benign |
Het |
| Prss46 |
G |
A |
9: 110,679,236 (GRCm39) |
V146I |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,461,626 (GRCm39) |
V1139M |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,500,963 (GRCm39) |
L396P |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,833,045 (GRCm39) |
A659T |
probably benign |
Het |
| Rdm1 |
T |
C |
11: 101,524,643 (GRCm39) |
L192P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,239,742 (GRCm39) |
W842G |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,881,420 (GRCm39) |
K509R |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,713,396 (GRCm39) |
I377N |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,040,483 (GRCm39) |
G269D |
probably damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,971,920 (GRCm39) |
T115A |
probably benign |
Het |
| Slc5a12 |
T |
G |
2: 110,440,483 (GRCm39) |
N157K |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,234,924 (GRCm39) |
V1634A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,074,919 (GRCm39) |
S2382P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,084,194 (GRCm39) |
S1100R |
probably benign |
Het |
| Tcf23 |
A |
G |
5: 31,130,901 (GRCm39) |
T180A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,804 (GRCm39) |
V2846A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,293,751 (GRCm39) |
I915K |
probably damaging |
Het |
| Uba1y |
C |
T |
Y: 828,862 (GRCm39) |
H557Y |
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,827,700 (GRCm39) |
D730E |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,605,011 (GRCm39) |
L734Q |
probably damaging |
Het |
| Vmn1r167 |
G |
T |
7: 23,204,204 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,454 (GRCm39) |
V282A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,344,283 (GRCm39) |
K2175E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGAGAAAGGAATTGTGGTCCACC -3'
(R):5'- GCCCGAGGTTAGAAGACATACCAATG -3'
Sequencing Primer
(F):5'- CAAGTGATCCGGGAACCTTTATG -3'
(R):5'- GGTTAGAAGACATACCAATGAGTTCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation