Incidental Mutation 'IGL00852:Dsc2'
ID | 278015 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dsc2
|
Ensembl Gene |
ENSMUSG00000024331 |
Gene Name | desmocollin 2 |
Synonyms | Dsc2b, Dsc2a |
Accession Numbers | Genbank: NM_013505; MGI: 103221 |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL00852
|
Quality Score | |
Status |
|
Chromosome | 18 |
Chromosomal Location | 20030633-20059554 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
C to T
at 20034683 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 718
(V718I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039247]
[ENSMUST00000075214]
[ENSMUST00000128464]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000039247
AA Change: V718I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000042905 Gene: ENSMUSG00000024331 AA Change: V718I
Domain | Start | End | E-Value | Type |
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
CA
|
156 |
241 |
4.66e-11 |
SMART |
CA
|
265 |
353 |
1.87e-24 |
SMART |
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
CA
|
376 |
470 |
1.27e-12 |
SMART |
CA
|
493 |
575 |
4.14e-17 |
SMART |
CA
|
594 |
676 |
1.49e-1 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075214
AA Change: V718I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000074702 Gene: ENSMUSG00000024331 AA Change: V718I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
CA
|
156 |
241 |
4.66e-11 |
SMART |
CA
|
265 |
353 |
1.87e-24 |
SMART |
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
CA
|
376 |
470 |
1.27e-12 |
SMART |
CA
|
493 |
575 |
4.14e-17 |
SMART |
CA
|
594 |
676 |
1.49e-1 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
730 |
901 |
3.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128464
|
SMART Domains |
Protein: ENSMUSP00000123010 Gene: ENSMUSG00000024331
Domain | Start | End | E-Value | Type |
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155407
AA Change: V117I
|
SMART Domains |
Protein: ENSMUSP00000116063 Gene: ENSMUSG00000024331 AA Change: V117I
Domain | Start | End | E-Value | Type |
SCOP:d1l3wa5
|
2 |
71 |
2e-3 |
SMART |
Blast:CA
|
2 |
76 |
2e-47 |
BLAST |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
Allele List at MGI | All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921507P07Rik |
T |
A |
6: 50,589,184 |
|
probably null |
Het |
Cfap157 |
T |
A |
2: 32,779,815 |
Q252L |
possibly damaging |
Het |
Chd9 |
C |
A |
8: 90,973,207 |
Q622K |
probably benign |
Het |
Crygd |
C |
T |
1: 65,062,091 |
R115Q |
probably benign |
Het |
Cypt15 |
A |
T |
X: 39,346,630 |
R56* |
probably null |
Het |
Dbt |
G |
A |
3: 116,546,114 |
G384S |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,423,313 |
L721* |
probably null |
Het |
Eef1b2 |
G |
A |
1: 63,178,506 |
G91R |
probably damaging |
Het |
Epb41l1 |
C |
T |
2: 156,503,718 |
L214F |
probably damaging |
Het |
Ibtk |
A |
C |
9: 85,713,601 |
Y971D |
probably benign |
Het |
Lancl1 |
G |
A |
1: 67,004,837 |
L335F |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,287,821 |
W1035R |
probably damaging |
Het |
Pkn2 |
T |
A |
3: 142,809,816 |
|
probably benign |
Het |
Ranbp2 |
G |
A |
10: 58,477,901 |
R1481Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,537,682 |
N313S |
probably benign |
Het |
Sept10 |
A |
G |
10: 59,192,820 |
|
probably benign |
Het |
Serpinb6c |
A |
T |
13: 33,897,338 |
|
probably null |
Het |
Slc22a19 |
C |
T |
19: 7,682,958 |
M362I |
probably benign |
Het |
Tnni3k |
T |
A |
3: 155,054,569 |
Q43L |
probably benign |
Het |
Trpm3 |
T |
A |
19: 22,987,071 |
V1310D |
possibly damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,805,601 |
S260R |
probably benign |
Het |
|
Other mutations in Dsc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00802:Dsc2
|
APN |
18 |
20041797 |
missense |
probably benign |
0.01 |
IGL00826:Dsc2
|
APN |
18 |
20035315 |
missense |
probably damaging |
1.00 |
IGL01082:Dsc2
|
APN |
18 |
20043792 |
missense |
probably damaging |
1.00 |
IGL01328:Dsc2
|
APN |
18 |
20048286 |
missense |
probably damaging |
0.98 |
IGL01338:Dsc2
|
APN |
18 |
20047157 |
missense |
probably benign |
0.19 |
IGL01727:Dsc2
|
APN |
18 |
20038200 |
missense |
probably benign |
0.01 |
IGL01766:Dsc2
|
APN |
18 |
20046342 |
missense |
possibly damaging |
0.56 |
IGL02228:Dsc2
|
APN |
18 |
20043733 |
missense |
probably damaging |
0.99 |
IGL02560:Dsc2
|
APN |
18 |
20045539 |
missense |
probably damaging |
1.00 |
IGL02794:Dsc2
|
APN |
18 |
20041731 |
missense |
probably damaging |
1.00 |
3-1:Dsc2
|
UTSW |
18 |
20047079 |
missense |
possibly damaging |
0.60 |
PIT4305001:Dsc2
|
UTSW |
18 |
20046243 |
missense |
probably damaging |
0.96 |
PIT4431001:Dsc2
|
UTSW |
18 |
20046277 |
nonsense |
probably null |
|
R0288:Dsc2
|
UTSW |
18 |
20033120 |
missense |
probably damaging |
1.00 |
R0542:Dsc2
|
UTSW |
18 |
20051226 |
missense |
probably damaging |
0.99 |
R0562:Dsc2
|
UTSW |
18 |
20041537 |
missense |
probably damaging |
0.99 |
R0697:Dsc2
|
UTSW |
18 |
20041452 |
missense |
probably damaging |
0.99 |
R0940:Dsc2
|
UTSW |
18 |
20050059 |
missense |
probably damaging |
0.97 |
R1081:Dsc2
|
UTSW |
18 |
20033295 |
missense |
probably damaging |
0.96 |
R1140:Dsc2
|
UTSW |
18 |
20032212 |
missense |
probably damaging |
1.00 |
R1515:Dsc2
|
UTSW |
18 |
20034701 |
missense |
probably damaging |
0.99 |
R1515:Dsc2
|
UTSW |
18 |
20045565 |
missense |
probably benign |
0.40 |
R1558:Dsc2
|
UTSW |
18 |
20050151 |
missense |
probably damaging |
0.99 |
R1654:Dsc2
|
UTSW |
18 |
20046246 |
missense |
probably benign |
0.01 |
R2061:Dsc2
|
UTSW |
18 |
20032399 |
missense |
possibly damaging |
0.79 |
R2089:Dsc2
|
UTSW |
18 |
20033294 |
missense |
possibly damaging |
0.65 |
R2091:Dsc2
|
UTSW |
18 |
20033294 |
missense |
possibly damaging |
0.65 |
R2091:Dsc2
|
UTSW |
18 |
20033294 |
missense |
possibly damaging |
0.65 |
R2172:Dsc2
|
UTSW |
18 |
20045502 |
missense |
probably damaging |
1.00 |
R2247:Dsc2
|
UTSW |
18 |
20035312 |
missense |
probably damaging |
1.00 |
R2472:Dsc2
|
UTSW |
18 |
20045469 |
missense |
probably benign |
0.00 |
R2927:Dsc2
|
UTSW |
18 |
20045501 |
missense |
probably damaging |
1.00 |
R3611:Dsc2
|
UTSW |
18 |
20032351 |
missense |
probably damaging |
0.99 |
R3961:Dsc2
|
UTSW |
18 |
20051227 |
missense |
probably damaging |
0.98 |
R3963:Dsc2
|
UTSW |
18 |
20051227 |
missense |
probably damaging |
0.98 |
R4353:Dsc2
|
UTSW |
18 |
20050068 |
missense |
probably damaging |
1.00 |
R4362:Dsc2
|
UTSW |
18 |
20050157 |
missense |
probably damaging |
1.00 |
R4612:Dsc2
|
UTSW |
18 |
20041819 |
missense |
probably damaging |
1.00 |
R4613:Dsc2
|
UTSW |
18 |
20041819 |
missense |
probably damaging |
1.00 |
R4752:Dsc2
|
UTSW |
18 |
20038222 |
missense |
probably damaging |
1.00 |
R4946:Dsc2
|
UTSW |
18 |
20050157 |
missense |
probably damaging |
1.00 |
R5056:Dsc2
|
UTSW |
18 |
20050142 |
missense |
probably damaging |
1.00 |
R5267:Dsc2
|
UTSW |
18 |
20034583 |
critical splice donor site |
probably null |
|
R5445:Dsc2
|
UTSW |
18 |
20035303 |
missense |
possibly damaging |
0.76 |
R5507:Dsc2
|
UTSW |
18 |
20046279 |
missense |
probably damaging |
0.96 |
R5575:Dsc2
|
UTSW |
18 |
20035390 |
missense |
probably damaging |
1.00 |
R5781:Dsc2
|
UTSW |
18 |
20032510 |
missense |
probably benign |
0.00 |
R6102:Dsc2
|
UTSW |
18 |
20047108 |
missense |
probably benign |
0.01 |
R6129:Dsc2
|
UTSW |
18 |
20045430 |
missense |
possibly damaging |
0.95 |
R6362:Dsc2
|
UTSW |
18 |
20035463 |
nonsense |
probably null |
|
R6433:Dsc2
|
UTSW |
18 |
20051175 |
critical splice donor site |
probably null |
|
R6513:Dsc2
|
UTSW |
18 |
20046238 |
missense |
probably benign |
|
R6615:Dsc2
|
UTSW |
18 |
20032519 |
missense |
possibly damaging |
0.88 |
R6619:Dsc2
|
UTSW |
18 |
20032278 |
missense |
probably benign |
0.22 |
R6665:Dsc2
|
UTSW |
18 |
20050148 |
missense |
probably damaging |
1.00 |
R6961:Dsc2
|
UTSW |
18 |
20038222 |
missense |
probably damaging |
1.00 |
R7179:Dsc2
|
UTSW |
18 |
20035275 |
critical splice donor site |
probably null |
|
R7275:Dsc2
|
UTSW |
18 |
20051179 |
nonsense |
probably null |
|
R7352:Dsc2
|
UTSW |
18 |
20035335 |
missense |
probably benign |
0.39 |
R7386:Dsc2
|
UTSW |
18 |
20041926 |
missense |
possibly damaging |
0.84 |
R7496:Dsc2
|
UTSW |
18 |
20035394 |
nonsense |
probably null |
|
R7510:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R7580:Dsc2
|
UTSW |
18 |
20050073 |
missense |
probably damaging |
1.00 |
R7718:Dsc2
|
UTSW |
18 |
20041778 |
missense |
probably damaging |
0.98 |
R7733:Dsc2
|
UTSW |
18 |
20048315 |
missense |
probably benign |
0.00 |
R7733:Dsc2
|
UTSW |
18 |
20048316 |
missense |
probably benign |
0.16 |
R7818:Dsc2
|
UTSW |
18 |
20050132 |
missense |
probably damaging |
1.00 |
R7852:Dsc2
|
UTSW |
18 |
20046285 |
missense |
possibly damaging |
0.67 |
R7998:Dsc2
|
UTSW |
18 |
20034663 |
missense |
possibly damaging |
0.87 |
R8029:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8030:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8031:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8032:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8059:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8060:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8061:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8062:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8063:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8082:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8090:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8114:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8115:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8116:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8117:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8118:Dsc2
|
UTSW |
18 |
20032274 |
missense |
possibly damaging |
0.78 |
R8328:Dsc2
|
UTSW |
18 |
20032519 |
missense |
possibly damaging |
0.68 |
R8545:Dsc2
|
UTSW |
18 |
20034665 |
nonsense |
probably null |
|
Z1088:Dsc2
|
UTSW |
18 |
20046304 |
missense |
probably damaging |
0.98 |
Z1176:Dsc2
|
UTSW |
18 |
20035299 |
missense |
probably damaging |
1.00 |
|
Posted On | 2015-04-16 |