Incidental Mutation 'R8307:Dsg2'
| ID |
641167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsg2
|
| Ensembl Gene |
ENSMUSG00000044393 |
| Gene Name |
desmoglein 2 |
| Synonyms |
D18Ertd293e |
| MMRRC Submission |
067717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R8307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20691131-20737578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20708121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 74
(P74L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059787]
[ENSMUST00000120102]
[ENSMUST00000121837]
|
| AlphaFold |
O55111 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059787
AA Change: P74L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: P74L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
75 |
162 |
2.39e-8 |
SMART |
|
CA
|
186 |
275 |
5.17e-27 |
SMART |
|
CA
|
298 |
392 |
1.94e-8 |
SMART |
|
CA
|
418 |
502 |
2.34e-16 |
SMART |
|
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120102
AA Change: P74L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: P74L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
75 |
162 |
2.39e-8 |
SMART |
|
CA
|
186 |
275 |
5.17e-27 |
SMART |
|
Pfam:Cadherin
|
282 |
347 |
6.9e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121837
AA Change: P74L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: P74L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
75 |
162 |
2.39e-8 |
SMART |
|
CA
|
186 |
275 |
5.17e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.5449 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein die in utero. Mutant mice lacking a part of the extracellular adhesive domain of the encoded protein develop cardiac fibrosis and dilation. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
A |
4: 148,025,837 (GRCm39) |
T119K |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,227,922 (GRCm39) |
L655* |
probably null |
Het |
| Aifm2 |
A |
G |
10: 61,562,171 (GRCm39) |
Y69C |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,030 (GRCm39) |
V448I |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,770,307 (GRCm39) |
S74P |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,978,498 (GRCm39) |
K939E |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,949 (GRCm39) |
F124L |
probably benign |
Het |
| Cdh12 |
T |
A |
15: 21,358,950 (GRCm39) |
Y125N |
probably damaging |
Het |
| Cdx2 |
A |
G |
5: 147,243,477 (GRCm39) |
Y106H |
possibly damaging |
Het |
| Chmp1a |
C |
T |
8: 123,932,980 (GRCm39) |
G158S |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,079,702 (GRCm39) |
Y1277F |
possibly damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,389 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,744,109 (GRCm39) |
D1317A |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,260,362 (GRCm39) |
M993K |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,414,297 (GRCm39) |
P44S |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,065,894 (GRCm39) |
F2078Y |
probably damaging |
Het |
| Fancl |
A |
G |
11: 26,349,642 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,347,402 (GRCm39) |
R41L |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,042,420 (GRCm39) |
T467M |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,330,707 (GRCm39) |
Q102R |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,286,127 (GRCm39) |
D2093G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Igkv1-131 |
A |
G |
6: 67,743,051 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il6st |
G |
T |
13: 112,624,281 (GRCm39) |
G177V |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,666,915 (GRCm39) |
Q511* |
probably null |
Het |
| Krt90 |
A |
G |
15: 101,467,634 (GRCm39) |
L248P |
probably damaging |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,586 (GRCm39) |
C187R |
unknown |
Het |
| Lonp1 |
C |
A |
17: 56,933,573 (GRCm39) |
A101S |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,058 (GRCm39) |
C1241R |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,312,333 (GRCm39) |
T308A |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,101 (GRCm39) |
D263G |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,342,307 (GRCm39) |
C1131* |
probably null |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,847 (GRCm39) |
D416G |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,284,894 (GRCm39) |
M786T |
possibly damaging |
Het |
| Pink1 |
A |
T |
4: 138,045,273 (GRCm39) |
M297K |
probably benign |
Het |
| Pln |
T |
C |
10: 53,219,975 (GRCm39) |
Y6H |
unknown |
Het |
| Ppp2r2c |
A |
G |
5: 37,104,430 (GRCm39) |
D270G |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,831,416 (GRCm39) |
L141R |
probably damaging |
Het |
| Prcd |
A |
T |
11: 116,550,199 (GRCm39) |
T76S |
possibly damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,137 (GRCm39) |
|
probably null |
Het |
| Rab11fip4 |
A |
T |
11: 79,581,600 (GRCm39) |
N532Y |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,788,308 (GRCm39) |
V592L |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,498 (GRCm39) |
D793G |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,034,242 (GRCm39) |
|
probably null |
Het |
| Srcap |
T |
A |
7: 127,124,541 (GRCm39) |
V237E |
probably damaging |
Het |
| Srl |
A |
G |
16: 4,315,009 (GRCm39) |
I211T |
probably benign |
Het |
| Tasor |
G |
T |
14: 27,193,622 (GRCm39) |
A941S |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,909 (GRCm39) |
V883A |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,151,223 (GRCm39) |
Y113H |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,537,909 (GRCm39) |
A267T |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,086 (GRCm39) |
G140S |
|
Het |
| Vmn2r110 |
C |
A |
17: 20,803,319 (GRCm39) |
V419L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,270 (GRCm39) |
F249L |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,314,652 (GRCm39) |
D584A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,063 (GRCm39) |
C394S |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,059 (GRCm39) |
I271T |
probably benign |
Het |
|
| Other mutations in Dsg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Dsg2
|
APN |
18 |
20,734,826 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00979:Dsg2
|
APN |
18 |
20,715,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01081:Dsg2
|
APN |
18 |
20,722,999 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01358:Dsg2
|
APN |
18 |
20,734,850 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02002:Dsg2
|
APN |
18 |
20,712,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02263:Dsg2
|
APN |
18 |
20,723,077 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02410:Dsg2
|
APN |
18 |
20,735,189 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02553:Dsg2
|
APN |
18 |
20,725,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Dsg2
|
APN |
18 |
20,712,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
dissolute
|
UTSW |
18 |
20,729,008 (GRCm39) |
splice site |
probably null |
|
|
Dysjunction
|
UTSW |
18 |
20,715,996 (GRCm39) |
nonsense |
probably null |
|
|
weg
|
UTSW |
18 |
20,713,708 (GRCm39) |
nonsense |
probably null |
|
|
R0094:Dsg2
|
UTSW |
18 |
20,724,910 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0094:Dsg2
|
UTSW |
18 |
20,724,910 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0105:Dsg2
|
UTSW |
18 |
20,735,111 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0105:Dsg2
|
UTSW |
18 |
20,735,111 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0112:Dsg2
|
UTSW |
18 |
20,716,099 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0305:Dsg2
|
UTSW |
18 |
20,715,752 (GRCm39) |
splice site |
probably benign |
|
|
R0380:Dsg2
|
UTSW |
18 |
20,715,996 (GRCm39) |
nonsense |
probably null |
|
|
R0401:Dsg2
|
UTSW |
18 |
20,725,565 (GRCm39) |
splice site |
probably benign |
|
|
R0421:Dsg2
|
UTSW |
18 |
20,712,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0578:Dsg2
|
UTSW |
18 |
20,727,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0667:Dsg2
|
UTSW |
18 |
20,706,556 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1223:Dsg2
|
UTSW |
18 |
20,706,550 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1433:Dsg2
|
UTSW |
18 |
20,715,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1543:Dsg2
|
UTSW |
18 |
20,727,268 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1730:Dsg2
|
UTSW |
18 |
20,724,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1783:Dsg2
|
UTSW |
18 |
20,724,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1946:Dsg2
|
UTSW |
18 |
20,713,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Dsg2
|
UTSW |
18 |
20,734,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Dsg2
|
UTSW |
18 |
20,734,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Dsg2
|
UTSW |
18 |
20,716,061 (GRCm39) |
unclassified |
probably benign |
|
|
R2109:Dsg2
|
UTSW |
18 |
20,725,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2143:Dsg2
|
UTSW |
18 |
20,712,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Dsg2
|
UTSW |
18 |
20,729,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2343:Dsg2
|
UTSW |
18 |
20,735,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2937:Dsg2
|
UTSW |
18 |
20,712,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Dsg2
|
UTSW |
18 |
20,735,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Dsg2
|
UTSW |
18 |
20,735,004 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3773:Dsg2
|
UTSW |
18 |
20,724,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Dsg2
|
UTSW |
18 |
20,713,720 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4213:Dsg2
|
UTSW |
18 |
20,731,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4299:Dsg2
|
UTSW |
18 |
20,729,008 (GRCm39) |
splice site |
probably null |
|
|
R4515:Dsg2
|
UTSW |
18 |
20,734,444 (GRCm39) |
missense |
probably benign |
|
|
R4649:Dsg2
|
UTSW |
18 |
20,735,302 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4940:Dsg2
|
UTSW |
18 |
20,712,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Dsg2
|
UTSW |
18 |
20,723,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Dsg2
|
UTSW |
18 |
20,734,578 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5078:Dsg2
|
UTSW |
18 |
20,729,140 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5155:Dsg2
|
UTSW |
18 |
20,731,715 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5398:Dsg2
|
UTSW |
18 |
20,712,190 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5503:Dsg2
|
UTSW |
18 |
20,713,708 (GRCm39) |
nonsense |
probably null |
|
|
R6133:Dsg2
|
UTSW |
18 |
20,723,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6163:Dsg2
|
UTSW |
18 |
20,731,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6226:Dsg2
|
UTSW |
18 |
20,712,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6228:Dsg2
|
UTSW |
18 |
20,727,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6241:Dsg2
|
UTSW |
18 |
20,723,274 (GRCm39) |
splice site |
probably null |
|
|
R6482:Dsg2
|
UTSW |
18 |
20,734,371 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6524:Dsg2
|
UTSW |
18 |
20,716,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Dsg2
|
UTSW |
18 |
20,734,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7058:Dsg2
|
UTSW |
18 |
20,725,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7108:Dsg2
|
UTSW |
18 |
20,734,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Dsg2
|
UTSW |
18 |
20,712,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7207:Dsg2
|
UTSW |
18 |
20,734,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7256:Dsg2
|
UTSW |
18 |
20,724,988 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7315:Dsg2
|
UTSW |
18 |
20,712,217 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7471:Dsg2
|
UTSW |
18 |
20,713,675 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7558:Dsg2
|
UTSW |
18 |
20,727,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8094:Dsg2
|
UTSW |
18 |
20,716,061 (GRCm39) |
unclassified |
probably benign |
|
|
R8118:Dsg2
|
UTSW |
18 |
20,715,858 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8157:Dsg2
|
UTSW |
18 |
20,713,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Dsg2
|
UTSW |
18 |
20,708,121 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8488:Dsg2
|
UTSW |
18 |
20,734,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Dsg2
|
UTSW |
18 |
20,712,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Dsg2
|
UTSW |
18 |
20,723,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8675:Dsg2
|
UTSW |
18 |
20,734,975 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8750:Dsg2
|
UTSW |
18 |
20,708,069 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8773:Dsg2
|
UTSW |
18 |
20,716,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Dsg2
|
UTSW |
18 |
20,723,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Dsg2
|
UTSW |
18 |
20,723,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Dsg2
|
UTSW |
18 |
20,715,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Dsg2
|
UTSW |
18 |
20,725,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Dsg2
|
UTSW |
18 |
20,725,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9263:Dsg2
|
UTSW |
18 |
20,727,223 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9328:Dsg2
|
UTSW |
18 |
20,715,847 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Dsg2
|
UTSW |
18 |
20,713,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dsg2
|
UTSW |
18 |
20,735,306 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGTCTCCCCAAAGCTTTG -3'
(R):5'- GTAGCTGAGCCAACTCCTAAAATC -3'
Sequencing Primer
(F):5'- AGCTTTGGGTATGTGATAACTCAAG -3'
(R):5'- TCTGTTAAAAGATAAGTTCCAGGCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation