Mutagenetix > Incidental Mutation

Incidental Mutation 'R0105:Dsg2'

17393

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

038391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R0105 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20735111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1030 (S1030P)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059787]

AlphaFold

O55111

Predicted Effect

probably benign
Transcript: ENSMUST00000059787
AA Change: S1030P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: S1030P

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

noncoding transcript
Transcript: ENSMUST00000130296

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 85.3%
3x: 77.7%
10x: 47.9%
20x: 15.1%

Validation Efficiency

96% (53/55)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Adcy9	A	G	16: 4,106,252 (GRCm39)	V954A	probably damaging	Het
Aldh8a1	T	A	10: 21,271,438 (GRCm39)	M388K	probably damaging	Het
Cdsn	A	C	17: 35,867,035 (GRCm39)	R521S	possibly damaging	Het
Cog3	A	G	14: 75,959,580 (GRCm39)	S591P	probably damaging	Het
Cplane1	T	A	15: 8,216,876 (GRCm39)	V698D	probably benign	Het
Crmp1	T	A	5: 37,441,479 (GRCm39)	D520E	probably damaging	Het
Ddhd1	T	C	14: 45,848,147 (GRCm39)	D507G	probably benign	Het
Dnah6	C	T	6: 73,132,262 (GRCm39)	A1147T	probably damaging	Het
Fam20b	T	C	1: 156,518,140 (GRCm39)	E218G	probably damaging	Het
Gab2	T	C	7: 96,948,279 (GRCm39)	Y290H	probably damaging	Het
Gm973	A	G	1: 59,621,633 (GRCm39)	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,700,026 (GRCm39)	T249A	probably benign	Het
Il15ra	T	A	2: 11,735,459 (GRCm39)		probably null	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Krt76	T	C	15: 101,793,347 (GRCm39)	T564A	unknown	Het
Lrrk1	G	T	7: 65,942,089 (GRCm39)	D716E	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mroh7	T	C	4: 106,568,467 (GRCm39)	T48A	possibly damaging	Het
Or4a71	T	C	2: 89,358,707 (GRCm39)	T16A	probably benign	Het
Pkhd1	G	A	1: 20,593,956 (GRCm39)	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,345,325 (GRCm39)	R344G	possibly damaging	Het
Plekhg4	G	A	8: 106,108,644 (GRCm39)	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,674,210 (GRCm39)	Y118C	probably damaging	Het
Ptpn4	C	T	1: 119,615,335 (GRCm39)		probably null	Het
Reln	G	A	5: 22,253,813 (GRCm39)	R600W	probably damaging	Het
Sumf2	T	A	5: 129,878,735 (GRCm39)		probably benign	Het
Tex10	C	A	4: 48,468,957 (GRCm39)	V73F	probably damaging	Het
Tgm5	C	A	2: 120,907,493 (GRCm39)	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,351,082 (GRCm39)		probably null	Het
Treml2	C	T	17: 48,609,856 (GRCm39)	T96I	probably damaging	Het
Zcchc17	T	A	4: 130,243,099 (GRCm39)	D28V	probably benign	Het
Zkscan6	T	A	11: 65,712,811 (GRCm39)	L248Q	probably damaging	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
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
R8307:Dsg2	UTSW	18	20,708,121 (GRCm39)	missense	probably benign	0.19
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

Posted On

2013-01-31