Incidental Mutation 'R3980:Ctnnd2'
| ID |
311288 |
| 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 |
040843-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3980 (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 A
at 30669589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 399
(H399Q)
|
| 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
AA Change: H399Q
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: H399Q
| 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
AA Change: H399Q
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228753
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,454,792 (GRCm39) |
G268R |
probably damaging |
Het |
| Amacr |
T |
A |
15: 10,989,015 (GRCm39) |
Y240* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Arhgef25 |
C |
A |
10: 127,023,089 (GRCm39) |
C106F |
probably damaging |
Het |
| Bean1 |
A |
T |
8: 104,937,730 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Ccr9 |
A |
T |
9: 123,608,441 (GRCm39) |
N41I |
probably benign |
Het |
| Ceacam16 |
A |
G |
7: 19,592,558 (GRCm39) |
F117L |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,289,155 (GRCm39) |
|
probably benign |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,956,056 (GRCm39) |
K3384* |
probably null |
Het |
| Cutal |
T |
C |
2: 34,772,325 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Defb30 |
C |
A |
14: 63,273,421 (GRCm39) |
C64F |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,446,960 (GRCm39) |
I45T |
probably benign |
Het |
| Esyt1 |
T |
A |
10: 128,347,393 (GRCm39) |
D1044V |
probably damaging |
Het |
| Gabpb2 |
A |
T |
3: 95,096,081 (GRCm39) |
V382E |
probably damaging |
Het |
| Glb1 |
T |
A |
9: 114,246,132 (GRCm39) |
I61K |
probably damaging |
Het |
| Insyn2b |
G |
A |
11: 34,352,678 (GRCm39) |
C240Y |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,783,226 (GRCm39) |
V263A |
possibly damaging |
Het |
| Kdm5b |
A |
G |
1: 134,547,408 (GRCm39) |
D1019G |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,109 (GRCm39) |
L545M |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,196,115 (GRCm39) |
G543C |
probably damaging |
Het |
| Krt31 |
G |
T |
11: 99,939,030 (GRCm39) |
Q264K |
probably damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,864,091 (GRCm39) |
D232G |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,501,855 (GRCm39) |
F859L |
probably damaging |
Het |
| Map7 |
C |
A |
10: 20,143,099 (GRCm39) |
T416K |
unknown |
Het |
| Med18 |
T |
A |
4: 132,190,251 (GRCm39) |
I45F |
probably benign |
Het |
| Mn1 |
A |
T |
5: 111,569,636 (GRCm39) |
H1202L |
possibly damaging |
Het |
| Mpp7 |
T |
C |
18: 7,444,062 (GRCm39) |
D120G |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,437 (GRCm39) |
F469I |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,369,984 (GRCm39) |
A206V |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,856,542 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or10ak12 |
T |
A |
4: 118,666,500 (GRCm39) |
Y187F |
probably benign |
Het |
| Or51a25 |
T |
C |
7: 102,372,959 (GRCm39) |
N246S |
probably damaging |
Het |
| Parp3 |
T |
C |
9: 106,351,267 (GRCm39) |
D278G |
probably damaging |
Het |
| Phc3 |
T |
A |
3: 30,991,080 (GRCm39) |
Q346L |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,231 (GRCm39) |
L1029P |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,943,803 (GRCm39) |
I66T |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,069,255 (GRCm39) |
S1019G |
probably benign |
Het |
| Plekhg6 |
C |
A |
6: 125,350,146 (GRCm39) |
C264F |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pou4f2 |
G |
T |
8: 79,162,067 (GRCm39) |
H179N |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,108,231 (GRCm39) |
|
probably benign |
Het |
| Rapgef1 |
G |
A |
2: 29,609,662 (GRCm39) |
V700I |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,444,703 (GRCm39) |
I185V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,349,607 (GRCm39) |
H785Q |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,035,399 (GRCm39) |
R758W |
probably benign |
Het |
| Sik3 |
G |
A |
9: 46,113,361 (GRCm39) |
V601M |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,007,552 (GRCm39) |
T286A |
probably benign |
Het |
| Slc36a3 |
G |
A |
11: 55,026,209 (GRCm39) |
T203I |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,468 (GRCm39) |
Q872L |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,245,215 (GRCm39) |
|
probably null |
Het |
| Stat6 |
T |
C |
10: 127,491,248 (GRCm39) |
V463A |
probably damaging |
Het |
| Stx7 |
T |
C |
10: 24,060,947 (GRCm39) |
S225P |
probably damaging |
Het |
| Sult2a7 |
A |
T |
7: 14,207,334 (GRCm39) |
|
probably benign |
Het |
| Tada2a |
A |
T |
11: 83,993,946 (GRCm39) |
F179L |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,236,187 (GRCm39) |
I382V |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,504,517 (GRCm39) |
A485D |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,698 (GRCm39) |
Y26F |
probably damaging |
Het |
| Vmn1r5 |
A |
G |
6: 56,962,636 (GRCm39) |
T104A |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
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 |
|
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'- ATAAGCAGACTAGCCTGGCG -3'
(R):5'- TGGTTTAATTTCCAAGGAGGTCC -3'
Sequencing Primer
(F):5'- ACTAGCCTGGCGTGTTGCTAC -3'
(R):5'- GCCTGAAGGTGTTCCCAATAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation