Incidental Mutation 'R1688:Dsc3'
| ID |
189534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| MMRRC Submission |
039721-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1688 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20099284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 744
(D744V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115848
AA Change: D744V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: D744V
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
9.08e-41 |
SMART |
|
CA
|
156 |
241 |
4.99e-11 |
SMART |
|
CA
|
265 |
353 |
7.79e-22 |
SMART |
|
CA
|
376 |
471 |
2.66e-6 |
SMART |
|
CA
|
494 |
576 |
4.58e-19 |
SMART |
|
CA
|
595 |
677 |
3.02e-2 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
778 |
895 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225110
AA Change: D744V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1916 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,002,695 (GRCm39) |
T20A |
probably benign |
Het |
| Acaca |
T |
G |
11: 84,129,722 (GRCm39) |
V359G |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,226,061 (GRCm39) |
R1359* |
probably null |
Het |
| Aggf1 |
T |
C |
13: 95,501,275 (GRCm39) |
E369G |
probably damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,382,765 (GRCm39) |
D418E |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,732 (GRCm39) |
D203G |
probably benign |
Het |
| Ank |
A |
G |
15: 27,557,320 (GRCm39) |
D168G |
probably damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,318,291 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
A |
G |
10: 79,864,929 (GRCm39) |
Y964C |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,547,607 (GRCm39) |
D571G |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 135,007,399 (GRCm39) |
Y223F |
possibly damaging |
Het |
| Bin1 |
T |
C |
18: 32,552,988 (GRCm39) |
|
probably benign |
Het |
| Bin1 |
G |
A |
18: 32,558,025 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,316,779 (GRCm39) |
M1514L |
possibly damaging |
Het |
| Cd109 |
T |
A |
9: 78,612,373 (GRCm39) |
F1253L |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,426,843 (GRCm39) |
E1065V |
probably null |
Het |
| Chmp2b |
T |
C |
16: 65,347,922 (GRCm39) |
N14S |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,258,093 (GRCm39) |
V2113A |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,849,794 (GRCm39) |
F1660L |
probably damaging |
Het |
| Cyp2c37 |
T |
G |
19: 39,982,887 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
T |
12: 71,993,820 (GRCm39) |
I408F |
unknown |
Het |
| Eprs1 |
T |
C |
1: 185,117,093 (GRCm39) |
F379L |
probably damaging |
Het |
| Ewsr1 |
G |
T |
11: 5,022,870 (GRCm39) |
D417E |
unknown |
Het |
| Eya4 |
A |
T |
10: 22,999,759 (GRCm39) |
N424K |
probably damaging |
Het |
| Gm9312 |
A |
C |
12: 24,301,920 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr2 |
T |
C |
11: 46,370,191 (GRCm39) |
I206T |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,864,125 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
T |
C |
1: 69,581,439 (GRCm39) |
K196R |
possibly damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,272,046 (GRCm39) |
G587R |
probably damaging |
Het |
| Immt |
A |
T |
6: 71,833,995 (GRCm39) |
H208L |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,728,826 (GRCm39) |
V540I |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,595,229 (GRCm39) |
|
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,090 (GRCm39) |
I68F |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,069 (GRCm39) |
E320G |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,329,494 (GRCm39) |
T276A |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,880,323 (GRCm39) |
L115P |
probably damaging |
Het |
| Nras |
T |
C |
3: 102,967,689 (GRCm39) |
L95P |
probably benign |
Het |
| Ogt |
G |
A |
X: 100,699,296 (GRCm39) |
V190I |
probably damaging |
Het |
| Or11h6 |
A |
T |
14: 50,880,705 (GRCm39) |
K322N |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,730 (GRCm39) |
Y139C |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,587,591 (GRCm39) |
H256L |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,338,533 (GRCm39) |
S153P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,838,507 (GRCm39) |
|
probably null |
Het |
| Per2 |
A |
G |
1: 91,351,551 (GRCm39) |
L985P |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,337,882 (GRCm39) |
A422V |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,753,710 (GRCm39) |
N1678S |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,350,450 (GRCm39) |
S432G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,416,363 (GRCm39) |
D47V |
possibly damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,105,480 (GRCm39) |
I163M |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,700 (GRCm39) |
E577G |
probably benign |
Het |
| Ptprd |
G |
T |
4: 75,900,921 (GRCm39) |
P1063T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,514,656 (GRCm39) |
D866G |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,972,211 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
| Rhno1 |
A |
G |
6: 128,334,897 (GRCm39) |
V142A |
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,669,570 (GRCm39) |
T698I |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,652,694 (GRCm39) |
M350K |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,863,274 (GRCm39) |
S141T |
possibly damaging |
Het |
| Tada2a |
T |
C |
11: 83,975,585 (GRCm39) |
|
probably null |
Het |
| Tspan10 |
A |
G |
11: 120,333,608 (GRCm39) |
M2V |
probably damaging |
Het |
| Ttll11 |
T |
C |
2: 35,685,391 (GRCm39) |
T566A |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,438,543 (GRCm39) |
Q1872R |
possibly damaging |
Het |
| Zfp605 |
T |
A |
5: 110,276,907 (GRCm39) |
I675N |
possibly damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,704,324 (GRCm39) |
N538K |
possibly damaging |
Het |
|
| Other mutations in Dsc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Dsc3
|
APN |
18 |
20,118,688 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01978:Dsc3
|
APN |
18 |
20,107,253 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02101:Dsc3
|
APN |
18 |
20,134,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02165:Dsc3
|
APN |
18 |
20,116,709 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02543:Dsc3
|
APN |
18 |
20,098,885 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02970:Dsc3
|
APN |
18 |
20,101,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Dsc3
|
UTSW |
18 |
20,107,105 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0133:Dsc3
|
UTSW |
18 |
20,104,639 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0304:Dsc3
|
UTSW |
18 |
20,114,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Dsc3
|
UTSW |
18 |
20,104,639 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0673:Dsc3
|
UTSW |
18 |
20,122,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Dsc3
|
UTSW |
18 |
20,114,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1120:Dsc3
|
UTSW |
18 |
20,120,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1491:Dsc3
|
UTSW |
18 |
20,120,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Dsc3
|
UTSW |
18 |
20,124,617 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1792:Dsc3
|
UTSW |
18 |
20,120,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Dsc3
|
UTSW |
18 |
20,098,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1965:Dsc3
|
UTSW |
18 |
20,113,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Dsc3
|
UTSW |
18 |
20,098,903 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2049:Dsc3
|
UTSW |
18 |
20,122,737 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2127:Dsc3
|
UTSW |
18 |
20,101,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2143:Dsc3
|
UTSW |
18 |
20,113,743 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2144:Dsc3
|
UTSW |
18 |
20,113,743 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2148:Dsc3
|
UTSW |
18 |
20,098,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3038:Dsc3
|
UTSW |
18 |
20,124,617 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3872:Dsc3
|
UTSW |
18 |
20,104,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4229:Dsc3
|
UTSW |
18 |
20,098,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Dsc3
|
UTSW |
18 |
20,113,811 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4491:Dsc3
|
UTSW |
18 |
20,134,922 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4590:Dsc3
|
UTSW |
18 |
20,122,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Dsc3
|
UTSW |
18 |
20,104,545 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5316:Dsc3
|
UTSW |
18 |
20,096,598 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5758:Dsc3
|
UTSW |
18 |
20,122,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Dsc3
|
UTSW |
18 |
20,104,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5916:Dsc3
|
UTSW |
18 |
20,120,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6022:Dsc3
|
UTSW |
18 |
20,099,395 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6233:Dsc3
|
UTSW |
18 |
20,098,852 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6351:Dsc3
|
UTSW |
18 |
20,099,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6971:Dsc3
|
UTSW |
18 |
20,099,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7261:Dsc3
|
UTSW |
18 |
20,113,814 (GRCm39) |
nonsense |
probably null |
|
|
R7442:Dsc3
|
UTSW |
18 |
20,114,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Dsc3
|
UTSW |
18 |
20,099,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Dsc3
|
UTSW |
18 |
20,114,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Dsc3
|
UTSW |
18 |
20,114,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Dsc3
|
UTSW |
18 |
20,101,449 (GRCm39) |
missense |
probably benign |
|
|
R8872:Dsc3
|
UTSW |
18 |
20,122,679 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8927:Dsc3
|
UTSW |
18 |
20,107,234 (GRCm39) |
missense |
probably benign |
|
|
R8928:Dsc3
|
UTSW |
18 |
20,107,234 (GRCm39) |
missense |
probably benign |
|
|
R9140:Dsc3
|
UTSW |
18 |
20,122,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9493:Dsc3
|
UTSW |
18 |
20,122,752 (GRCm39) |
nonsense |
probably null |
|
|
X0061:Dsc3
|
UTSW |
18 |
20,122,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dsc3
|
UTSW |
18 |
20,099,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTACGAAGCTCAGTAAGTGCCACA -3'
(R):5'- ACAAGGATATTTCAAAGGATGCCACAGT -3'
Sequencing Primer
(F):5'- GTGCCACACCATAAGCTTTGG -3'
(R):5'- CAAAGGATGCCACAGTTAATGTTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation