Incidental Mutation 'R1881:Ctnnd2'
ID |
209143 |
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 |
039902-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1881 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 31005227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081728
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240
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 benign
Transcript: ENSMUST00000226119
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227029
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.3%
|
Validation Efficiency |
96% (71/74) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
C |
A |
11: 84,161,213 (GRCm39) |
Y1026* |
probably null |
Het |
Acaca |
T |
G |
11: 84,191,297 (GRCm39) |
|
probably benign |
Het |
Adcy8 |
C |
T |
15: 64,678,503 (GRCm39) |
M483I |
probably damaging |
Het |
Adgrb2 |
G |
A |
4: 129,904,078 (GRCm39) |
G735S |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,100,173 (GRCm39) |
T2612A |
probably benign |
Het |
Armc1 |
A |
T |
3: 19,189,060 (GRCm39) |
S202T |
possibly damaging |
Het |
Arsj |
T |
C |
3: 126,232,486 (GRCm39) |
S411P |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,888,862 (GRCm39) |
V247A |
probably benign |
Het |
Camta2 |
T |
C |
11: 70,562,842 (GRCm39) |
D935G |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,898,170 (GRCm39) |
V1626F |
probably damaging |
Het |
Cpne3 |
T |
A |
4: 19,535,266 (GRCm39) |
R255S |
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,196,656 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
Cstf3 |
A |
T |
2: 104,484,563 (GRCm39) |
M396L |
probably benign |
Het |
Cul7 |
A |
T |
17: 46,962,888 (GRCm39) |
Y173F |
probably damaging |
Het |
Dach1 |
A |
T |
14: 98,138,832 (GRCm39) |
M537K |
probably benign |
Het |
Ddhd2 |
T |
C |
8: 26,217,727 (GRCm39) |
I717V |
probably damaging |
Het |
Dnm1 |
C |
T |
2: 32,213,742 (GRCm39) |
V475I |
probably damaging |
Het |
Dnm3 |
C |
T |
1: 162,305,517 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,405,597 (GRCm39) |
|
probably benign |
Het |
Eaf2 |
A |
T |
16: 36,620,941 (GRCm39) |
|
probably benign |
Het |
En1 |
T |
A |
1: 120,530,904 (GRCm39) |
V48E |
unknown |
Het |
Eral1 |
T |
A |
11: 77,966,875 (GRCm39) |
H180L |
possibly damaging |
Het |
Fry |
T |
A |
5: 150,401,511 (GRCm39) |
C2760S |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
Ifnl2 |
T |
A |
7: 28,209,112 (GRCm39) |
R68W |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
Krtap4-1 |
C |
T |
11: 99,518,990 (GRCm39) |
G7S |
probably null |
Het |
Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
Mup5 |
C |
A |
4: 61,752,868 (GRCm39) |
E52* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,891,446 (GRCm39) |
I189V |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,688,420 (GRCm39) |
Q619L |
probably damaging |
Het |
Or14a257 |
T |
C |
7: 86,138,646 (GRCm39) |
M38V |
probably benign |
Het |
Or1p1 |
A |
T |
11: 74,179,492 (GRCm39) |
T7S |
probably benign |
Het |
Or4n4b |
A |
G |
14: 50,536,472 (GRCm39) |
I98T |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
Pam |
T |
C |
1: 97,850,876 (GRCm39) |
T161A |
probably benign |
Het |
Phf8-ps |
T |
A |
17: 33,284,258 (GRCm39) |
D848V |
probably damaging |
Het |
Pigs |
T |
C |
11: 78,232,582 (GRCm39) |
V472A |
probably benign |
Het |
Plek |
A |
T |
11: 16,940,111 (GRCm39) |
N176K |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,535,239 (GRCm39) |
N168S |
probably benign |
Het |
Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,033,336 (GRCm39) |
S716T |
probably damaging |
Het |
Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
Slc25a20 |
G |
A |
9: 108,557,408 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
A |
T |
5: 31,194,155 (GRCm39) |
L634Q |
probably damaging |
Het |
Slfn3 |
A |
G |
11: 83,104,202 (GRCm39) |
I235V |
possibly damaging |
Het |
Smarcc1 |
T |
A |
9: 110,004,167 (GRCm39) |
L407Q |
probably damaging |
Het |
Spata32 |
T |
C |
11: 103,101,561 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,723,783 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,744,130 (GRCm39) |
V726A |
probably benign |
Het |
Tmed7 |
A |
T |
18: 46,721,622 (GRCm39) |
|
probably null |
Het |
Tmem161a |
G |
A |
8: 70,633,435 (GRCm39) |
G94S |
probably null |
Het |
Tmem81 |
T |
A |
1: 132,435,948 (GRCm39) |
|
probably benign |
Het |
Trim63 |
C |
A |
4: 134,043,702 (GRCm39) |
A55E |
probably damaging |
Het |
Trmt1 |
A |
C |
8: 85,415,896 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,471,079 (GRCm39) |
S1023P |
possibly damaging |
Het |
Upk3bl |
G |
A |
5: 136,086,157 (GRCm39) |
R31Q |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,921,993 (GRCm39) |
D290G |
probably benign |
Het |
Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
Vmn1r26 |
T |
A |
6: 57,985,650 (GRCm39) |
T180S |
probably benign |
Het |
Wdr48 |
G |
T |
9: 119,738,606 (GRCm39) |
V89L |
probably benign |
Het |
Wdr6 |
G |
T |
9: 108,450,378 (GRCm39) |
|
probably null |
Het |
Zfp345 |
A |
G |
2: 150,314,275 (GRCm39) |
Y421H |
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 |
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'- GCAAATTCAAATGCTTGGAACTCC -3'
(R):5'- TTCCTCACTGAGTGCAGGAC -3'
Sequencing Primer
(F):5'- ACTCCACCGAGTCAGGAG -3'
(R):5'- GGACACATCCCACAGACGGAAG -3'
|
Posted On |
2014-06-30 |