Incidental Mutation 'R7179:Ctnnd2'
| ID |
558870 |
| 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 |
045269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30683510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 504
(Y504H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226119]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081728
AA Change: Y504H
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: Y504H
| 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: Y504H
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
A |
T |
13: 25,002,154 (GRCm39) |
I96K |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,509,291 (GRCm39) |
T555A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,598,351 (GRCm39) |
P1059L |
probably benign |
Het |
| Apol7c |
T |
C |
15: 77,409,843 (GRCm39) |
T368A |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,475,015 (GRCm39) |
L1557Q |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,622 (GRCm39) |
D348E |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,230,913 (GRCm39) |
S295G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,204,052 (GRCm39) |
C1328R |
probably benign |
Het |
| Ccnk |
T |
A |
12: 108,153,517 (GRCm39) |
Y93N |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,089 (GRCm39) |
V147D |
probably damaging |
Het |
| Cd24a |
G |
A |
10: 43,458,636 (GRCm39) |
G36S |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,077,324 (GRCm39) |
Y569C |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,125,168 (GRCm39) |
I884N |
probably damaging |
Het |
| Cnst |
A |
T |
1: 179,406,947 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,323,768 (GRCm39) |
R321L |
probably damaging |
Het |
| D3Ertd751e |
C |
A |
3: 41,703,143 (GRCm39) |
Q73K |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,332 (GRCm39) |
|
probably null |
Het |
| Eya1 |
A |
T |
1: 14,373,076 (GRCm39) |
S14R |
probably damaging |
Het |
| Fam131c |
A |
T |
4: 141,110,328 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
T |
C |
12: 85,793,965 (GRCm39) |
F114L |
possibly damaging |
Het |
| Fyn |
A |
G |
10: 39,408,120 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galnt5 |
A |
C |
2: 57,888,621 (GRCm39) |
M74L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,218 (GRCm39) |
R142C |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,288 (GRCm39) |
P675S |
probably benign |
Het |
| Gm9508 |
G |
T |
10: 77,532,470 (GRCm39) |
Q200K |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,544,576 (GRCm39) |
S1390N |
probably benign |
Het |
| Hdac5 |
G |
T |
11: 102,095,385 (GRCm39) |
T430K |
possibly damaging |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Khnyn |
C |
T |
14: 56,131,811 (GRCm39) |
P578S |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,602,856 (GRCm39) |
T215S |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,768 (GRCm39) |
V686I |
probably benign |
Het |
| Mapkap1 |
T |
A |
2: 34,408,712 (GRCm39) |
H233Q |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,885,081 (GRCm39) |
I201T |
probably damaging |
Het |
| Metrnl |
G |
A |
11: 121,606,734 (GRCm39) |
R263Q |
probably damaging |
Het |
| Mettl22 |
A |
G |
16: 8,295,924 (GRCm39) |
E71G |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,553,304 (GRCm39) |
T4330A |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,379 (GRCm39) |
T387A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,135,550 (GRCm39) |
D379G |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,132,847 (GRCm39) |
K478E |
unknown |
Het |
| Or14a256 |
A |
T |
7: 86,265,574 (GRCm39) |
L93Q |
possibly damaging |
Het |
| Or51d1 |
A |
G |
7: 102,347,477 (GRCm39) |
T11A |
probably benign |
Het |
| Or5k1 |
T |
A |
16: 58,617,250 (GRCm39) |
I320F |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,941,662 (GRCm39) |
V62I |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,163,018 (GRCm39) |
N246S |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,851,845 (GRCm39) |
Y39C |
probably damaging |
Het |
| Prl3b1 |
G |
T |
13: 27,427,827 (GRCm39) |
V46L |
probably benign |
Het |
| Prss54 |
A |
T |
8: 96,292,199 (GRCm39) |
S127T |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,611,391 (GRCm39) |
T912M |
probably damaging |
Het |
| Rrp12 |
T |
A |
19: 41,872,217 (GRCm39) |
T420S |
probably benign |
Het |
| Rspo1 |
A |
G |
4: 124,898,831 (GRCm39) |
N51D |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,172,035 (GRCm39) |
R253G |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,657,167 (GRCm39) |
R571C |
unknown |
Het |
| Scn2a |
A |
T |
2: 65,532,323 (GRCm39) |
H645L |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,782,595 (GRCm39) |
S1132P |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,290 (GRCm39) |
K298R |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,573 (GRCm39) |
N230K |
probably benign |
Het |
| Slc27a4 |
T |
G |
2: 29,705,664 (GRCm39) |
Y617* |
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,269 (GRCm39) |
S310P |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,980,258 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
T |
2: 121,932,270 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
A |
G |
13: 41,283,258 (GRCm39) |
T165A |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,615,571 (GRCm39) |
C189R |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 23,984,882 (GRCm39) |
L184Q |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,281,815 (GRCm39) |
P111L |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,603,197 (GRCm39) |
L445Q |
possibly damaging |
Het |
| Usp53 |
A |
G |
3: 122,743,359 (GRCm39) |
S526P |
probably benign |
Het |
| Vps54 |
T |
G |
11: 21,248,791 (GRCm39) |
W447G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,340,177 (GRCm39) |
H806L |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,651 (GRCm39) |
H410Q |
unknown |
Het |
| Zfp688 |
A |
G |
7: 127,018,484 (GRCm39) |
C214R |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,174 (GRCm39) |
D143G |
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 |
|
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 |
|
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 |
|
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'- ACCGTTTCTGTGAGCAGGTC -3'
(R):5'- CAGGCAGTAACAGCTCACAG -3'
Sequencing Primer
(F):5'- GAGCAGGTCCTCAATTTTT -3'
(R):5'- TCACAGCGTGCCGAGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation