Incidental Mutation 'R1701:Ctnnd2'
| ID |
189752 |
| 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 |
039734-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30922127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 918
(D918N)
|
| 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: D943N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: D943N
| 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: D918N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,142 (GRCm39) |
L53P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,026,213 (GRCm39) |
F19I |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,147,598 (GRCm39) |
G303S |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,816 (GRCm39) |
Y171H |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,510,229 (GRCm39) |
I385N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,877 (GRCm39) |
T324S |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,427,427 (GRCm39) |
V235A |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,076,255 (GRCm39) |
K258R |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,439,335 (GRCm39) |
E786G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,802,750 (GRCm39) |
S200P |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,576 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,750 (GRCm39) |
T422A |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,331,578 (GRCm39) |
H1137R |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,748,643 (GRCm39) |
S706N |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,114 (GRCm39) |
L357P |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,726 (GRCm39) |
S476G |
probably benign |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,450 (GRCm39) |
T34A |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,231,656 (GRCm39) |
L443P |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,618,694 (GRCm39) |
D233E |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,466,394 (GRCm39) |
K75E |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,617 (GRCm39) |
I259L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,863,162 (GRCm39) |
C108R |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,401,993 (GRCm39) |
I111V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,872,539 (GRCm39) |
N936S |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,170,964 (GRCm39) |
C125F |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,129 (GRCm39) |
C179F |
probably damaging |
Het |
| Or2h2 |
C |
T |
17: 37,396,623 (GRCm39) |
V145M |
probably benign |
Het |
| Or51a10 |
T |
C |
7: 103,699,402 (GRCm39) |
E53G |
possibly damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,651 (GRCm39) |
I46T |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,731 (GRCm39) |
Q142P |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,894 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c202 |
T |
C |
10: 128,995,974 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,662,365 (GRCm39) |
I228F |
probably damaging |
Het |
| Pate8 |
A |
G |
9: 36,493,114 (GRCm39) |
|
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,645,400 (GRCm39) |
P836S |
probably damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,911,415 (GRCm39) |
F189S |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,342,054 (GRCm39) |
D487G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
| Robo4 |
G |
T |
9: 37,314,739 (GRCm39) |
V198L |
probably benign |
Het |
| Selenbp1 |
C |
A |
3: 94,844,701 (GRCm39) |
H119Q |
probably damaging |
Het |
| Slc25a13 |
T |
C |
6: 6,152,525 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
A |
G |
1: 125,498,330 (GRCm39) |
E176G |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,552,096 (GRCm39) |
V2512M |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,682,188 (GRCm39) |
|
probably null |
Het |
| Trim30d |
C |
T |
7: 104,133,389 (GRCm39) |
W21* |
probably null |
Het |
| Ube3c |
G |
A |
5: 29,806,200 (GRCm39) |
V281I |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,783 (GRCm39) |
K383R |
probably benign |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,529 (GRCm39) |
Y138F |
probably damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,395 (GRCm39) |
V186A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,754 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,935 (GRCm39) |
F785S |
probably damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,470 (GRCm39) |
Y334F |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,638,282 (GRCm39) |
I317V |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,060 (GRCm39) |
I259T |
possibly 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 |
|
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'- GGCAGTTCAACCGTTTTGGCTC -3'
(R):5'- AACCAGACTGTTGGTGACTGGAGG -3'
Sequencing Primer
(F):5'- CTCAGAGCTGCTGGCTTCATAG -3'
(R):5'- TGCAGGCTGTGAGGGAC -3'
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| Posted On |
2014-05-14 |
Incidental Mutation