Incidental Mutation 'R5595:Ctnnd2'
ID |
437797 |
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 |
043147-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5595 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30669689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 433
(L433F)
|
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: L433F
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000080427 Gene: ENSMUSG00000022240 AA Change: L433F
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: L433F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228753
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
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 |
4930562C15Rik |
T |
C |
16: 4,682,143 (GRCm39) |
F991S |
probably benign |
Het |
4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
Ankrd44 |
T |
C |
1: 54,801,506 (GRCm39) |
T274A |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,774,209 (GRCm39) |
I398K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
Cryz |
T |
A |
3: 154,312,155 (GRCm39) |
V84E |
probably damaging |
Het |
Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
Eif4e1b |
G |
A |
13: 54,934,529 (GRCm39) |
V131I |
possibly damaging |
Het |
Epha1 |
A |
G |
6: 42,341,568 (GRCm39) |
V494A |
possibly damaging |
Het |
Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
Otoa |
T |
A |
7: 120,721,200 (GRCm39) |
L405H |
probably damaging |
Het |
Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
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 |
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'- TTGGCTGAGTTTTAATGTTCCC -3'
(R):5'- CTGATGATAGAAGCAGGCCG -3'
Sequencing Primer
(F):5'- GCTGAGTTTTAATGTTCCCATGTTC -3'
(R):5'- GGCGTGACTGGAAACACAC -3'
|
Posted On |
2016-10-26 |