Incidental Mutation 'R0408:Ctnnd2'
| ID |
40127 |
| 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 |
038610-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0408 (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 C
at 30634823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 157
(L157P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154410
(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: L157P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: L157P
| 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: L157P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228282
AA Change: L66P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,903,446 (GRCm39) |
N1032K |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,756,457 (GRCm39) |
I1416T |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,797,319 (GRCm39) |
|
probably null |
Het |
| Akap13 |
C |
T |
7: 75,396,544 (GRCm39) |
L2514F |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,798 (GRCm39) |
V331A |
probably damaging |
Het |
| Arid3a |
T |
A |
10: 79,786,667 (GRCm39) |
D473E |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,939 (GRCm39) |
S536P |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,317 (GRCm38) |
S668C |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,302,033 (GRCm39) |
I243F |
probably damaging |
Het |
| Bend6 |
G |
A |
1: 33,901,834 (GRCm39) |
P183S |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,299 (GRCm39) |
S43T |
probably benign |
Het |
| Camk4 |
G |
A |
18: 33,262,845 (GRCm39) |
D136N |
probably damaging |
Het |
| Ceacam3 |
G |
T |
7: 16,885,808 (GRCm39) |
|
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,969 (GRCm39) |
I356V |
probably benign |
Het |
| Clec9a |
T |
A |
6: 129,396,532 (GRCm39) |
I133N |
possibly damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,229,614 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,186,656 (GRCm39) |
V436A |
probably damaging |
Het |
| Dipk1c |
T |
A |
18: 84,738,488 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
C |
1: 80,518,193 (GRCm39) |
K1293R |
probably benign |
Het |
| Dync1h1 |
T |
G |
12: 110,598,126 (GRCm39) |
D1772E |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,561,387 (GRCm39) |
G72C |
probably damaging |
Het |
| Fam136a |
T |
G |
6: 86,343,707 (GRCm39) |
V68G |
possibly damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,363 (GRCm39) |
E195G |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,319 (GRCm39) |
Q165L |
possibly damaging |
Het |
| Glb1l |
T |
C |
1: 75,185,479 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,249 (GRCm39) |
V198A |
possibly damaging |
Het |
| Gpr26 |
C |
A |
7: 131,576,001 (GRCm39) |
|
probably null |
Het |
| Gsdma3 |
A |
C |
11: 98,526,164 (GRCm39) |
E296A |
probably benign |
Het |
| Hyou1 |
G |
T |
9: 44,295,989 (GRCm39) |
G385W |
probably damaging |
Het |
| Il17rb |
T |
C |
14: 29,718,637 (GRCm39) |
S482G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,898,428 (GRCm39) |
R1715W |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,263,717 (GRCm39) |
S411G |
probably benign |
Het |
| Kdm3a |
C |
T |
6: 71,588,663 (GRCm39) |
D449N |
probably benign |
Het |
| Kifbp |
T |
C |
10: 62,401,832 (GRCm39) |
I23M |
probably benign |
Het |
| Klhl26 |
T |
C |
8: 70,905,130 (GRCm39) |
D226G |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,354,737 (GRCm39) |
I94F |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,589,894 (GRCm39) |
D808G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,603 (GRCm39) |
M272I |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,496 (GRCm39) |
D251G |
probably benign |
Het |
| Mob3b |
T |
C |
4: 35,083,991 (GRCm39) |
D66G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,705,988 (GRCm39) |
Q1863R |
probably damaging |
Het |
| Naa12 |
T |
C |
18: 80,255,029 (GRCm39) |
S108P |
probably damaging |
Het |
| Or10al3 |
G |
A |
17: 38,012,190 (GRCm39) |
V210I |
probably benign |
Het |
| Or4c103 |
A |
T |
2: 88,513,999 (GRCm39) |
F26I |
probably benign |
Het |
| Pdgfd |
T |
A |
9: 6,293,928 (GRCm39) |
Y167* |
probably null |
Het |
| Pfas |
A |
G |
11: 68,891,931 (GRCm39) |
|
probably null |
Het |
| Plin1 |
T |
A |
7: 79,372,394 (GRCm39) |
T393S |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,636,986 (GRCm39) |
N110K |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,099,674 (GRCm39) |
V1726D |
probably benign |
Het |
| Sestd1 |
T |
A |
2: 77,022,137 (GRCm39) |
D518V |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,423,310 (GRCm39) |
P344S |
probably damaging |
Het |
| Slc22a1 |
A |
T |
17: 12,875,828 (GRCm39) |
I462N |
probably damaging |
Het |
| Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
| Tbc1d14 |
G |
T |
5: 36,728,643 (GRCm39) |
T241K |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,779,141 (GRCm39) |
L1176P |
possibly damaging |
Het |
| Ube2g1 |
G |
C |
11: 72,563,791 (GRCm39) |
G52A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,259,934 (GRCm39) |
*957R |
probably null |
Het |
| Vmn2r125 |
A |
T |
4: 156,703,153 (GRCm39) |
E177V |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,723 (GRCm39) |
F631S |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,529,626 (GRCm39) |
C42* |
probably null |
Het |
| Zc3h14 |
T |
G |
12: 98,730,082 (GRCm39) |
V13G |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,141 (GRCm39) |
V551D |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,004,809 (GRCm39) |
R70W |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGACCAGGGTGAATCTTACATTG -3'
(R):5'- AAAGAGCAAGGACCCTTACCTGGC -3'
Sequencing Primer
(F):5'- TTTAAGCCACCGGaaaaagaaagg -3'
(R):5'- CTTACCTGGCTGAAGCTCTGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation