Incidental Mutation 'R6979:Ctnnd2'
| ID |
542633 |
| 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 |
045087-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30619376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 99
(E99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081728]
[ENSMUST00000226116]
[ENSMUST00000226119]
[ENSMUST00000228282]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081728
AA Change: E99G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: E99G
| 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: ENSMUST00000226116
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226119
AA Change: E99G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228282
AA Change: E8G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0855 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
T |
3: 59,947,424 (GRCm39) |
T374M |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,087,378 (GRCm39) |
D278G |
possibly damaging |
Het |
| Aspm |
C |
A |
1: 139,408,223 (GRCm39) |
A2370E |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,702,873 (GRCm39) |
M65T |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Cpne3 |
G |
A |
4: 19,533,098 (GRCm39) |
T279I |
probably benign |
Het |
| Ctdspl |
G |
A |
9: 118,869,598 (GRCm39) |
V227M |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,095 (GRCm39) |
S728P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,358,163 (GRCm39) |
I512T |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,403,695 (GRCm39) |
T1630S |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,992 (GRCm39) |
D460G |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,567 (GRCm39) |
|
probably benign |
Het |
| H2-Q2 |
T |
A |
17: 35,564,623 (GRCm39) |
|
probably null |
Het |
| Hes6 |
T |
C |
1: 91,340,810 (GRCm39) |
E17G |
possibly damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,848 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,388,554 (GRCm39) |
D311G |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,356 (GRCm39) |
C489S |
probably damaging |
Het |
| Map4k5 |
A |
T |
12: 69,869,622 (GRCm39) |
C488S |
probably damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,825 (GRCm39) |
G377D |
possibly damaging |
Het |
| Mat2a |
A |
G |
6: 72,412,096 (GRCm39) |
V318A |
probably damaging |
Het |
| Mpp7 |
T |
G |
18: 7,355,049 (GRCm39) |
N459T |
possibly damaging |
Het |
| Mrc2 |
C |
A |
11: 105,239,461 (GRCm39) |
N1348K |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,664,978 (GRCm39) |
K264R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,608,930 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,718,122 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
C |
T |
8: 73,394,288 (GRCm39) |
P517L |
probably damaging |
Het |
| Or4a27 |
T |
A |
2: 88,559,528 (GRCm39) |
R138S |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,577 (GRCm39) |
S188P |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,557,095 (GRCm39) |
F63L |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,582,400 (GRCm39) |
|
probably null |
Het |
| Pomt2 |
T |
C |
12: 87,177,125 (GRCm39) |
I287M |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,610,342 (GRCm39) |
N190K |
possibly damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,341,545 (GRCm39) |
Y59N |
possibly damaging |
Het |
| Prl5a1 |
T |
A |
13: 28,335,189 (GRCm39) |
F199L |
probably benign |
Het |
| Prpf38b |
A |
G |
3: 108,818,640 (GRCm39) |
V40A |
probably benign |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,311 (GRCm39) |
D586G |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,802,879 (GRCm39) |
K1312E |
probably damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,987 (GRCm39) |
D158G |
probably benign |
Het |
| Spen |
A |
T |
4: 141,205,374 (GRCm39) |
D1084E |
unknown |
Het |
| Tcp11l1 |
C |
T |
2: 104,536,784 (GRCm39) |
G27D |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,076,094 (GRCm39) |
S1679P |
possibly damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,391 (GRCm39) |
V322I |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,988,359 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,555,137 (GRCm39) |
A30623S |
probably damaging |
Het |
| Ube2l3 |
G |
A |
16: 16,977,841 (GRCm39) |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,418,890 (GRCm39) |
D146G |
probably damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,186 (GRCm39) |
H34L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,576,265 (GRCm39) |
T379A |
possibly damaging |
Het |
| Zfp35 |
G |
T |
18: 24,136,927 (GRCm39) |
G424C |
probably benign |
Het |
| Zfp420 |
T |
A |
7: 29,575,446 (GRCm39) |
H555Q |
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 |
|
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 |
|
|
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'- AACAGTGTTCATTGATGGCAC -3'
(R):5'- GCCCCAAATCATGAGCTAGC -3'
Sequencing Primer
(F):5'- TGGCACAGTATTACCTGCAAATC -3'
(R):5'- GAGGTACATATCAAAGGGGT -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation