Incidental Mutation 'IGL02183:Ctnnd2'
ID |
284316 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctnnd2
|
Ensembl Gene |
ENSMUSG00000022240 |
Gene Name |
catenin delta 2 |
Synonyms |
Nprap, Catnd2, neurojugin, catenin (cadherin associated protein), delta 2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02183
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31020886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1124
(Y1124C)
|
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: Y1149C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240 AA Change: Y1149C
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: Y1124C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227029
|
Coding Region Coverage |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
T |
A |
X: 162,960,465 (GRCm39) |
|
probably benign |
Het |
Acsm4 |
A |
T |
7: 119,293,075 (GRCm39) |
|
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,084,925 (GRCm39) |
M374T |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,344,575 (GRCm39) |
E551G |
possibly damaging |
Het |
Bag4 |
A |
T |
8: 26,258,058 (GRCm39) |
L423Q |
probably damaging |
Het |
Celf1 |
C |
T |
2: 90,831,831 (GRCm39) |
P96S |
probably damaging |
Het |
Cracdl |
G |
A |
1: 37,664,459 (GRCm39) |
P480S |
possibly damaging |
Het |
Cry2 |
G |
A |
2: 92,243,384 (GRCm39) |
R486W |
probably damaging |
Het |
Csn1s1 |
G |
A |
5: 87,825,477 (GRCm39) |
S228N |
possibly damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,118,384 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,847,228 (GRCm39) |
C1695S |
possibly damaging |
Het |
Elmo3 |
T |
C |
8: 106,034,955 (GRCm39) |
L415P |
probably benign |
Het |
Entpd5 |
A |
G |
12: 84,427,154 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
T |
C |
17: 79,149,660 (GRCm39) |
|
probably null |
Het |
Gprin3 |
C |
A |
6: 59,330,147 (GRCm39) |
R720I |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,502,460 (GRCm39) |
T358P |
probably damaging |
Het |
Hcn2 |
T |
C |
10: 79,560,647 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,221 (GRCm39) |
T1891A |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,799,635 (GRCm39) |
V153A |
probably damaging |
Het |
Ifnar1 |
T |
C |
16: 91,302,034 (GRCm39) |
V503A |
possibly damaging |
Het |
Igf2r |
G |
A |
17: 12,917,403 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
A |
G |
12: 113,271,449 (GRCm39) |
S35P |
unknown |
Het |
Jmy |
T |
C |
13: 93,635,750 (GRCm39) |
D22G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,552,669 (GRCm39) |
I1215T |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,440,791 (GRCm39) |
I134V |
unknown |
Het |
Magi3 |
T |
A |
3: 103,992,663 (GRCm39) |
M270L |
probably benign |
Het |
Maneal |
G |
A |
4: 124,754,209 (GRCm39) |
T198I |
probably benign |
Het |
Map7d3 |
A |
G |
X: 55,867,591 (GRCm39) |
|
probably benign |
Het |
Myh7 |
T |
A |
14: 55,212,188 (GRCm39) |
T1519S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,074,518 (GRCm39) |
|
probably benign |
Het |
Naip5 |
T |
C |
13: 100,358,150 (GRCm39) |
S1029G |
probably benign |
Het |
Or14j1 |
G |
T |
17: 38,146,304 (GRCm39) |
C138F |
probably damaging |
Het |
Or4c11c |
A |
T |
2: 88,662,372 (GRCm39) |
I304F |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,136,763 (GRCm39) |
V71E |
probably damaging |
Het |
Or5d14 |
T |
C |
2: 87,880,333 (GRCm39) |
T212A |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,184 (GRCm39) |
Q133L |
probably benign |
Het |
Pald1 |
A |
T |
10: 61,182,920 (GRCm39) |
|
probably benign |
Het |
Pan2 |
T |
A |
10: 128,144,944 (GRCm39) |
H230Q |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,123,720 (GRCm39) |
I817V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,153,705 (GRCm39) |
S2547P |
probably benign |
Het |
Ppargc1b |
T |
A |
18: 61,442,167 (GRCm39) |
|
probably null |
Het |
Prdm6 |
T |
C |
18: 53,597,749 (GRCm39) |
|
probably benign |
Het |
Prr5l |
A |
T |
2: 101,602,465 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,003,665 (GRCm39) |
L1020* |
probably null |
Het |
Rhbdf1 |
T |
C |
11: 32,160,543 (GRCm39) |
H669R |
probably damaging |
Het |
Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,745,325 (GRCm39) |
D1360E |
probably null |
Het |
Sag |
T |
C |
1: 87,756,197 (GRCm39) |
|
probably null |
Het |
Scn2a |
C |
T |
2: 65,501,947 (GRCm39) |
T90I |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,314,955 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,926,640 (GRCm39) |
M212T |
probably damaging |
Het |
Slc39a14 |
C |
T |
14: 70,544,134 (GRCm39) |
G484E |
possibly damaging |
Het |
Slco1a1 |
A |
T |
6: 141,867,669 (GRCm39) |
|
probably benign |
Het |
Slitrk3 |
A |
T |
3: 72,957,312 (GRCm39) |
Y487N |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,836,671 (GRCm39) |
M279T |
probably benign |
Het |
Tmem161b |
T |
C |
13: 84,420,373 (GRCm39) |
Y125H |
probably damaging |
Het |
Tmem71 |
A |
G |
15: 66,426,874 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,188,201 (GRCm39) |
F142L |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,963 (GRCm39) |
L209P |
probably damaging |
Het |
Wdr73 |
A |
T |
7: 80,543,508 (GRCm39) |
W136R |
probably damaging |
Het |
Wif1 |
C |
T |
10: 120,911,181 (GRCm39) |
R107C |
probably damaging |
Het |
Ythdf2 |
G |
T |
4: 131,932,885 (GRCm39) |
L92M |
probably benign |
Het |
Zfp53 |
T |
A |
17: 21,720,512 (GRCm39) |
I34N |
possibly damaging |
Het |
Zpld2 |
A |
G |
4: 133,929,291 (GRCm39) |
L338S |
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |