Incidental Mutation 'R8891:Ctnnd2'
| ID |
677714 |
| 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 |
068753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
30172739-31029487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30620076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 143
(T143S)
|
| 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 benign
Transcript: ENSMUST00000081728
AA Change: T143S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: T143S
| 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 benign
Transcript: ENSMUST00000226119
AA Change: T143S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228282
AA Change: T52S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,520 (GRCm39) |
K570* |
probably null |
Het |
| Abi1 |
T |
C |
2: 22,861,262 (GRCm39) |
I99V |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,958 (GRCm39) |
G256R |
unknown |
Het |
| Adgrg7 |
T |
A |
16: 56,572,762 (GRCm39) |
E351D |
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,612,143 (GRCm39) |
K66T |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,162,144 (GRCm39) |
R34W |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,787,813 (GRCm39) |
T1469A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,096,284 (GRCm39) |
I1605V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,822,194 (GRCm39) |
R1708S |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,840 (GRCm39) |
E28D |
probably benign |
Het |
| Cldn24 |
A |
T |
8: 48,275,281 (GRCm39) |
N35I |
probably benign |
Het |
| Coa6 |
G |
C |
8: 127,149,570 (GRCm39) |
|
probably null |
Het |
| Copa |
C |
T |
1: 171,946,818 (GRCm39) |
R1009C |
probably damaging |
Het |
| Crybb2 |
G |
A |
5: 113,209,913 (GRCm39) |
T150M |
possibly damaging |
Het |
| Eid3 |
A |
G |
10: 82,702,992 (GRCm39) |
N151S |
probably damaging |
Het |
| Fbxo17 |
G |
T |
7: 28,434,733 (GRCm39) |
V173L |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,415,433 (GRCm39) |
N240S |
probably damaging |
Het |
| Gck |
G |
T |
11: 5,851,733 (GRCm39) |
S445R |
probably damaging |
Het |
| Gm5114 |
C |
A |
7: 39,057,718 (GRCm39) |
V634F |
probably benign |
Het |
| Gnat2 |
G |
A |
3: 108,005,634 (GRCm39) |
D200N |
|
Het |
| H13 |
A |
G |
2: 152,546,049 (GRCm39) |
N390S |
probably benign |
Het |
| Helz |
T |
A |
11: 107,552,842 (GRCm39) |
M1206K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,387,439 (GRCm39) |
G371R |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,982,326 (GRCm39) |
T513A |
probably damaging |
Het |
| L3mbtl4 |
T |
C |
17: 68,762,781 (GRCm39) |
S105P |
possibly damaging |
Het |
| Lpo |
T |
A |
11: 87,697,848 (GRCm39) |
E653V |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,887,435 (GRCm39) |
D3088G |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,084 (GRCm39) |
H72N |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,801 (GRCm39) |
H981Q |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,559,246 (GRCm39) |
I56N |
probably benign |
Het |
| Mul1 |
A |
C |
4: 138,162,164 (GRCm39) |
K32Q |
probably benign |
Het |
| Oas1c |
C |
T |
5: 120,946,126 (GRCm39) |
S124N |
probably benign |
Het |
| Omg |
T |
A |
11: 79,393,829 (GRCm39) |
K10* |
probably null |
Het |
| Or2a52 |
A |
G |
6: 43,144,750 (GRCm39) |
I253V |
probably benign |
Het |
| Or4k52 |
A |
T |
2: 111,611,186 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,046 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,692 (GRCm39) |
N599K |
probably damaging |
Het |
| Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
| Phf7 |
C |
A |
14: 30,971,613 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
C |
T |
4: 144,099,397 (GRCm39) |
C456Y |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,982 (GRCm39) |
N42S |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,090,136 (GRCm39) |
D716E |
probably benign |
Het |
| Rprd2 |
A |
C |
3: 95,671,367 (GRCm39) |
H1345Q |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,768 (GRCm39) |
A668V |
probably damaging |
Het |
| Sag |
T |
A |
1: 87,759,683 (GRCm39) |
L307Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,603,734 (GRCm39) |
P1106L |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,382,409 (GRCm39) |
I615N |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,628,993 (GRCm39) |
V600A |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,263 (GRCm39) |
T264A |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,809,983 (GRCm39) |
|
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,783,069 (GRCm39) |
V477A |
possibly damaging |
Het |
| Tle7 |
T |
A |
8: 110,836,763 (GRCm39) |
S216R |
possibly damaging |
Het |
| Ttc17 |
G |
A |
2: 94,192,764 (GRCm39) |
A89V |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,255,657 (GRCm39) |
I39T |
|
Het |
| Zfp184 |
T |
C |
13: 22,143,512 (GRCm39) |
F406S |
probably damaging |
Het |
| Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
| Zfp59 |
T |
A |
7: 27,554,313 (GRCm39) |
D588E |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,797,083 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
|
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'- ACATGTGCTTAACTTTGGCTTCTG -3'
(R):5'- TCACCAGACTCTTGGGGTTG -3'
Sequencing Primer
(F):5'- CCTGTGAAAGGGTCATTAGAATCCC -3'
(R):5'- AGTATGACGCTTGCAGTCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation