Incidental Mutation 'R6737:Ctnnd2'
| ID |
530271 |
| 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 |
044855-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 30966980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 952
(S952*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081728
AA Change: S977*
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: S977*
| 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 null
Transcript: ENSMUST00000226119
AA Change: S952*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228332
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,504,456 (GRCm39) |
R114G |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,397,351 (GRCm39) |
S1661T |
probably benign |
Het |
| Castor1 |
A |
G |
11: 4,171,685 (GRCm39) |
D303G |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,245,262 (GRCm39) |
A188T |
probably benign |
Het |
| Cecr2 |
G |
T |
6: 120,714,084 (GRCm39) |
L225F |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,243,647 (GRCm39) |
V1603A |
possibly damaging |
Het |
| Clec4g |
T |
C |
8: 3,757,716 (GRCm39) |
|
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,371,001 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
G |
T |
4: 133,800,001 (GRCm39) |
G387V |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,391,140 (GRCm39) |
M249K |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,790 (GRCm39) |
F95L |
probably benign |
Het |
| Ddx55 |
C |
A |
5: 124,691,008 (GRCm39) |
T5K |
probably damaging |
Het |
| Depp1 |
G |
T |
6: 116,629,058 (GRCm39) |
V134L |
possibly damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,171,377 (GRCm39) |
N342S |
probably benign |
Het |
| Eif2ak4 |
TGG |
TG |
2: 118,292,749 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
G |
10: 25,364,916 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,205,513 (GRCm39) |
K493E |
probably damaging |
Het |
| Fndc7 |
C |
A |
3: 108,779,594 (GRCm39) |
V317L |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,339 (GRCm39) |
I7M |
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,903 (GRCm39) |
I370N |
probably benign |
Het |
| Glo1 |
C |
T |
17: 30,816,814 (GRCm39) |
S114N |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,848,279 (GRCm39) |
D163G |
probably damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,835 (GRCm39) |
C195R |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,451 (GRCm39) |
N806S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,605 (GRCm39) |
N987S |
probably benign |
Het |
| Klhl29 |
G |
T |
12: 5,260,124 (GRCm39) |
S31R |
possibly damaging |
Het |
| Lama4 |
C |
T |
10: 38,970,907 (GRCm39) |
R1491C |
probably damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,443,051 (GRCm39) |
L578P |
probably damaging |
Het |
| Lrrk2 |
A |
C |
15: 91,607,421 (GRCm39) |
M595L |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,571,955 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Mrc1 |
C |
T |
2: 14,276,088 (GRCm39) |
A474V |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,694,908 (GRCm39) |
H134R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,236 (GRCm39) |
M1394T |
unknown |
Het |
| Myof |
G |
A |
19: 37,931,962 (GRCm39) |
T968I |
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,844,055 (GRCm39) |
G116D |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,777,562 (GRCm39) |
L494P |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,810,601 (GRCm39) |
V459E |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,633,030 (GRCm39) |
Y1034N |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,842,682 (GRCm39) |
S829T |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,732 (GRCm39) |
S206G |
probably benign |
Het |
| Or4f47 |
T |
C |
2: 111,972,548 (GRCm39) |
F86S |
probably damaging |
Het |
| Or52a24 |
C |
T |
7: 103,381,357 (GRCm39) |
L75F |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,175 (GRCm39) |
L285P |
possibly damaging |
Het |
| Pcdh18 |
C |
A |
3: 49,710,344 (GRCm39) |
V324F |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,723 (GRCm39) |
L701H |
probably damaging |
Het |
| Plau |
T |
G |
14: 20,887,884 (GRCm39) |
Y43D |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,917,588 (GRCm39) |
N53I |
probably damaging |
Het |
| Pon2 |
T |
A |
6: 5,266,183 (GRCm39) |
I279F |
probably benign |
Het |
| Prep |
A |
T |
10: 44,973,591 (GRCm39) |
K233I |
possibly damaging |
Het |
| Rap1b |
T |
C |
10: 117,658,713 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,789 (GRCm39) |
|
probably null |
Het |
| Rnf19b |
T |
C |
4: 128,979,344 (GRCm39) |
|
probably benign |
Het |
| Rpl9-ps6 |
A |
C |
19: 32,443,727 (GRCm39) |
S75R |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,719,818 (GRCm39) |
Y609C |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,392,936 (GRCm39) |
N1232S |
unknown |
Het |
| Slc28a1 |
T |
G |
7: 80,818,996 (GRCm39) |
V615G |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snx13 |
T |
G |
12: 35,190,185 (GRCm39) |
N845K |
probably damaging |
Het |
| Srms |
T |
C |
2: 180,851,253 (GRCm39) |
Y171C |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,122,644 (GRCm39) |
L193P |
probably damaging |
Het |
| Syt7 |
G |
A |
19: 10,421,408 (GRCm39) |
V531M |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,507,096 (GRCm39) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,650,235 (GRCm39) |
K449N |
possibly damaging |
Het |
| Trim29 |
A |
T |
9: 43,230,681 (GRCm39) |
D288V |
probably benign |
Het |
| Ttc13 |
T |
A |
8: 125,408,900 (GRCm39) |
|
probably null |
Het |
| Uchl3 |
A |
T |
14: 101,928,033 (GRCm39) |
D167V |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,311,895 (GRCm39) |
V379A |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,757 (GRCm39) |
D3507G |
probably damaging |
Het |
| Wfdc2 |
A |
T |
2: 164,405,362 (GRCm39) |
K88* |
probably null |
Het |
| Ylpm1 |
C |
A |
12: 85,077,620 (GRCm39) |
H1448Q |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,751,305 (GRCm39) |
K667E |
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 |
|
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'- TGCATCCAGTGTCTGCATGC -3'
(R):5'- TGTTGGCACTGACTTACTCC -3'
Sequencing Primer
(F):5'- AGTGTCTGCATGCATCCTC -3'
(R):5'- GTTGGCACTGACTTACTCCAATAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation