Incidental Mutation 'R5330:Ctnnd2'
ID |
423183 |
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 |
042912-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5330 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30332261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 48
(T48I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226116]
[ENSMUST00000226119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081728
AA Change: T48I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240 AA Change: T48I
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: ENSMUST00000226116
AA Change: T48I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226119
AA Change: T48I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226797
|
Meta Mutation Damage Score |
0.1468 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
99% (95/96) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
A2m |
A |
G |
6: 121,615,375 (GRCm39) |
D83G |
probably benign |
Het |
Abca16 |
T |
A |
7: 120,102,600 (GRCm39) |
I833N |
probably benign |
Het |
Adam6b |
C |
A |
12: 113,454,200 (GRCm39) |
P339H |
possibly damaging |
Het |
Adgrb2 |
A |
T |
4: 129,915,995 (GRCm39) |
H1505L |
possibly damaging |
Het |
Aktip |
A |
T |
8: 91,853,352 (GRCm39) |
F122I |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,315,351 (GRCm39) |
L500* |
probably null |
Het |
Blm |
T |
C |
7: 80,108,684 (GRCm39) |
E55G |
possibly damaging |
Het |
Carmil1 |
A |
T |
13: 24,209,929 (GRCm39) |
|
probably null |
Het |
Cdca7 |
T |
C |
2: 72,315,042 (GRCm39) |
C311R |
probably damaging |
Het |
Cds1 |
T |
C |
5: 101,946,361 (GRCm39) |
S187P |
probably damaging |
Het |
Chuk |
A |
T |
19: 44,067,394 (GRCm39) |
V587E |
probably damaging |
Het |
Commd10 |
T |
C |
18: 47,093,497 (GRCm39) |
V19A |
probably damaging |
Het |
Cyp2b10 |
T |
A |
7: 25,613,414 (GRCm39) |
Y203* |
probably null |
Het |
Dchs1 |
A |
T |
7: 105,403,809 (GRCm39) |
V2911E |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,495,787 (GRCm39) |
E1472K |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,542,871 (GRCm39) |
T3514A |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,051,573 (GRCm39) |
I3074F |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elp1 |
T |
C |
4: 56,800,001 (GRCm39) |
T42A |
probably benign |
Het |
Fam131c |
A |
T |
4: 141,110,141 (GRCm39) |
T180S |
probably benign |
Het |
Fbxo41 |
T |
C |
6: 85,456,888 (GRCm39) |
E427G |
probably benign |
Het |
Gabrr2 |
A |
G |
4: 33,082,583 (GRCm39) |
K236E |
possibly damaging |
Het |
Gm10152 |
A |
T |
7: 144,317,283 (GRCm39) |
|
noncoding transcript |
Het |
Gm10313 |
T |
A |
8: 46,708,490 (GRCm39) |
|
noncoding transcript |
Het |
Gm5414 |
C |
A |
15: 101,533,099 (GRCm39) |
V443F |
probably damaging |
Het |
Gm7334 |
T |
C |
17: 51,006,160 (GRCm39) |
S149P |
possibly damaging |
Het |
Grik2 |
G |
A |
10: 49,008,867 (GRCm39) |
T740M |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,088,180 (GRCm39) |
Y930C |
probably damaging |
Het |
Hepacam2 |
T |
C |
6: 3,483,377 (GRCm39) |
T211A |
probably benign |
Het |
Herc4 |
G |
T |
10: 63,143,578 (GRCm39) |
E703* |
probably null |
Het |
Hivep2 |
A |
G |
10: 14,007,164 (GRCm39) |
K1254R |
probably damaging |
Het |
Hras |
T |
C |
7: 140,772,853 (GRCm39) |
M1V |
probably null |
Het |
Il23r |
T |
G |
6: 67,400,479 (GRCm39) |
Q617P |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,388,693 (GRCm39) |
T789A |
probably damaging |
Het |
Kcnj12 |
A |
G |
11: 60,961,012 (GRCm39) |
K437E |
probably benign |
Het |
Lct |
A |
T |
1: 128,226,266 (GRCm39) |
D1374E |
probably benign |
Het |
Luc7l |
C |
A |
17: 26,494,707 (GRCm39) |
C104* |
probably null |
Het |
Lurap1 |
G |
A |
4: 116,001,601 (GRCm39) |
L31F |
probably damaging |
Het |
Mark4 |
G |
A |
7: 19,170,908 (GRCm39) |
P321S |
probably damaging |
Het |
Med18 |
A |
G |
4: 132,190,377 (GRCm39) |
|
probably benign |
Het |
Mia2 |
A |
G |
12: 59,142,598 (GRCm39) |
S5G |
probably benign |
Het |
Mrgprb3 |
T |
C |
7: 48,292,682 (GRCm39) |
T290A |
possibly damaging |
Het |
Ms4a20 |
A |
G |
19: 11,069,222 (GRCm39) |
|
probably benign |
Het |
Negr1 |
A |
T |
3: 156,774,913 (GRCm39) |
K210* |
probably null |
Het |
Nktr |
T |
C |
9: 121,581,834 (GRCm39) |
|
probably benign |
Het |
Nob1 |
T |
G |
8: 108,142,881 (GRCm39) |
T267P |
probably damaging |
Het |
Nos3 |
A |
G |
5: 24,574,902 (GRCm39) |
E307G |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,540,111 (GRCm39) |
T796A |
probably damaging |
Het |
Nwd2 |
C |
A |
5: 63,963,859 (GRCm39) |
L1148I |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,770,486 (GRCm39) |
V988E |
probably damaging |
Het |
Pcdha4 |
G |
A |
18: 37,087,755 (GRCm39) |
R646H |
probably benign |
Het |
Per3 |
G |
T |
4: 151,125,759 (GRCm39) |
L187I |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,660,667 (GRCm39) |
D774G |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,378,082 (GRCm39) |
Y403H |
probably damaging |
Het |
Plcl2 |
G |
A |
17: 50,816,876 (GRCm39) |
A81T |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,638,101 (GRCm39) |
N123D |
probably benign |
Het |
Psma5 |
T |
G |
3: 108,175,386 (GRCm39) |
V146G |
possibly damaging |
Het |
Ptprk |
A |
T |
10: 28,463,076 (GRCm39) |
D189V |
probably damaging |
Het |
Relb |
C |
T |
7: 19,340,630 (GRCm39) |
G509S |
possibly damaging |
Het |
Rgs11 |
A |
T |
17: 26,421,947 (GRCm39) |
M1L |
probably benign |
Het |
Rhbg |
T |
A |
3: 88,152,775 (GRCm39) |
T313S |
probably benign |
Het |
Ripply2 |
T |
A |
9: 86,897,691 (GRCm39) |
|
probably benign |
Het |
Scap |
T |
C |
9: 110,210,701 (GRCm39) |
V1011A |
probably benign |
Het |
Scarf1 |
G |
A |
11: 75,406,406 (GRCm39) |
G230D |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,343,351 (GRCm39) |
Y314N |
possibly damaging |
Het |
Slc17a8 |
A |
G |
10: 89,425,356 (GRCm39) |
|
probably null |
Het |
Slc22a14 |
A |
T |
9: 119,059,662 (GRCm39) |
L153Q |
probably damaging |
Het |
Slc22a27 |
A |
G |
19: 7,856,820 (GRCm39) |
I406T |
probably benign |
Het |
Slc30a6 |
A |
G |
17: 74,730,190 (GRCm39) |
D355G |
probably benign |
Het |
Snta1 |
C |
A |
2: 154,219,940 (GRCm39) |
E403* |
probably null |
Het |
Socs7 |
A |
G |
11: 97,268,852 (GRCm39) |
D382G |
possibly damaging |
Het |
Spata31d1a |
A |
T |
13: 59,848,217 (GRCm39) |
C1304S |
possibly damaging |
Het |
Srebf2 |
T |
A |
15: 82,080,409 (GRCm39) |
I834N |
possibly damaging |
Het |
Steap1 |
G |
T |
5: 5,790,422 (GRCm39) |
H175Q |
probably damaging |
Het |
Sult2a8 |
T |
C |
7: 14,147,679 (GRCm39) |
E204G |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,335,258 (GRCm39) |
S524P |
probably damaging |
Het |
Tbc1d9b |
C |
T |
11: 50,037,140 (GRCm39) |
A263V |
probably benign |
Het |
Tecta |
A |
C |
9: 42,249,152 (GRCm39) |
D1903E |
probably damaging |
Het |
Tmem222 |
A |
C |
4: 133,004,935 (GRCm39) |
M34R |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,596,167 (GRCm39) |
T187A |
probably damaging |
Het |
Trpv4 |
A |
G |
5: 114,773,604 (GRCm39) |
Y253H |
probably damaging |
Het |
Trpv5 |
G |
A |
6: 41,637,266 (GRCm39) |
R358C |
probably benign |
Het |
Ttll13 |
T |
C |
7: 79,910,257 (GRCm39) |
V800A |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,578 (GRCm39) |
G2613E |
probably benign |
Het |
Vmn2r58 |
G |
A |
7: 41,513,384 (GRCm39) |
Q420* |
probably null |
Het |
Zranb3 |
G |
A |
1: 127,887,457 (GRCm39) |
P990L |
probably damaging |
Het |
Zswim9 |
T |
A |
7: 12,993,912 (GRCm39) |
D748V |
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 |
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'- ACACTTGTCCAGACAGTTTCTAAC -3'
(R):5'- TCCAGAGGAACAGCATGAAATC -3'
Sequencing Primer
(F):5'- ATCCAACTGTAACCTTCATTGCTATG -3'
(R):5'- AAGAACAACTGTCACCCTACTTTAG -3'
|
Posted On |
2016-08-04 |