Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Dsg2'

332887

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20558074-20604521 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20601387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 807 (D807E)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably benign
Transcript: ENSMUST00000059787
AA Change: D807E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: D807E

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

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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
A430033K04Rik	G	T	5: 138,647,744 (GRCm38)	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363 (GRCm38)	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786 (GRCm38)		probably benign	Het
Atp8b3	C	T	10: 80,523,847 (GRCm38)	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078 (GRCm38)		probably null	Het
Ccdc88a	T	C	11: 29,482,651 (GRCm38)	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951 (GRCm38)	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904 (GRCm38)	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877 (GRCm38)	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090 (GRCm38)	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284 (GRCm38)	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536 (GRCm38)		probably null	Het
Copg1	A	G	6: 87,907,546 (GRCm38)		probably benign	Het
Dbn1	A	T	13: 55,476,229 (GRCm38)	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631 (GRCm38)	S2135P	possibly damaging	Het
Fam122c	G	A	X: 53,293,499 (GRCm38)	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972 (GRCm38)	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610 (GRCm38)	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571 (GRCm38)	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057 (GRCm38)	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809 (GRCm38)	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008 (GRCm38)	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830 (GRCm38)		probably null	Het
Hemgn	T	C	4: 46,396,477 (GRCm38)	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649 (GRCm38)	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257 (GRCm38)	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867 (GRCm38)	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474 (GRCm38)	T26A	unknown	Het
Macf1	T	C	4: 123,493,988 (GRCm38)	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938 (GRCm38)	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191 (GRCm38)	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393 (GRCm38)	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982 (GRCm38)		probably null	Het
Olfr954	C	T	9: 39,462,231 (GRCm38)	R264*	probably null	Het
Orc4	G	A	2: 48,937,489 (GRCm38)	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361 (GRCm38)	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379 (GRCm38)	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896 (GRCm38)	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725 (GRCm38)	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531 (GRCm38)	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838 (GRCm38)	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379 (GRCm38)	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160 (GRCm38)	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212 (GRCm38)	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958 (GRCm38)	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294 (GRCm38)	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468 (GRCm38)	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693 (GRCm38)		probably null	Het
Sipa1l2	T	C	8: 125,492,226 (GRCm38)	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530 (GRCm38)		probably null	Het
Stk11	A	G	10: 80,116,601 (GRCm38)		probably benign	Het
Tcaf3	A	G	6: 42,589,996 (GRCm38)	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161 (GRCm38)	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196 (GRCm38)	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356 (GRCm38)	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443 (GRCm38)		probably null	Het
Ugt1a10	T	A	1: 88,056,197 (GRCm38)	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213 (GRCm38)	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258 (GRCm38)	D548V	probably damaging	Het

Other mutations in Dsg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Dsg2	APN	18	20,601,769 (GRCm38)	missense	probably benign	0.10
IGL00979:Dsg2	APN	18	20,582,767 (GRCm38)	missense	probably damaging	0.99
IGL01081:Dsg2	APN	18	20,589,942 (GRCm38)	unclassified	probably benign
IGL01358:Dsg2	APN	18	20,601,793 (GRCm38)	missense	probably damaging	0.98
IGL02002:Dsg2	APN	18	20,579,176 (GRCm38)	missense	probably damaging	1.00
IGL02263:Dsg2	APN	18	20,590,020 (GRCm38)	missense	possibly damaging	0.70
IGL02410:Dsg2	APN	18	20,602,132 (GRCm38)	missense	probably benign	0.04
IGL02553:Dsg2	APN	18	20,592,410 (GRCm38)	missense	probably damaging	1.00
IGL03036:Dsg2	APN	18	20,579,077 (GRCm38)	missense	probably damaging	0.99
dissolute	UTSW	18	20,595,951 (GRCm38)	splice site	probably null
Dysjunction	UTSW	18	20,582,939 (GRCm38)	nonsense	probably null
weg	UTSW	18	20,580,651 (GRCm38)	nonsense	probably null
R0094:Dsg2	UTSW	18	20,591,853 (GRCm38)	missense	probably benign	0.08
R0094:Dsg2	UTSW	18	20,591,853 (GRCm38)	missense	probably benign	0.08
R0105:Dsg2	UTSW	18	20,602,054 (GRCm38)	missense	probably benign	0.03
R0105:Dsg2	UTSW	18	20,602,054 (GRCm38)	missense	probably benign	0.03
R0112:Dsg2	UTSW	18	20,583,042 (GRCm38)	missense	probably benign	0.02
R0305:Dsg2	UTSW	18	20,582,695 (GRCm38)	splice site	probably benign
R0380:Dsg2	UTSW	18	20,582,939 (GRCm38)	nonsense	probably null
R0401:Dsg2	UTSW	18	20,592,508 (GRCm38)	splice site	probably benign
R0421:Dsg2	UTSW	18	20,579,391 (GRCm38)	missense	probably damaging	1.00
R0578:Dsg2	UTSW	18	20,594,234 (GRCm38)	missense	probably benign	0.00
R0667:Dsg2	UTSW	18	20,573,499 (GRCm38)	missense	possibly damaging	0.50
R1223:Dsg2	UTSW	18	20,573,493 (GRCm38)	missense	probably benign	0.23
R1433:Dsg2	UTSW	18	20,582,723 (GRCm38)	missense	probably damaging	0.98
R1543:Dsg2	UTSW	18	20,594,211 (GRCm38)	missense	probably benign	0.33
R1730:Dsg2	UTSW	18	20,591,880 (GRCm38)	missense	probably benign	0.01
R1783:Dsg2	UTSW	18	20,591,880 (GRCm38)	missense	probably benign	0.01
R1946:Dsg2	UTSW	18	20,580,548 (GRCm38)	missense	probably damaging	1.00
R1991:Dsg2	UTSW	18	20,601,473 (GRCm38)	missense	probably damaging	1.00
R1992:Dsg2	UTSW	18	20,601,473 (GRCm38)	missense	probably damaging	1.00
R2027:Dsg2	UTSW	18	20,583,004 (GRCm38)	unclassified	probably benign
R2109:Dsg2	UTSW	18	20,592,289 (GRCm38)	missense	probably benign	0.00
R2143:Dsg2	UTSW	18	20,579,161 (GRCm38)	missense	probably damaging	1.00
R2201:Dsg2	UTSW	18	20,596,054 (GRCm38)	missense	probably damaging	1.00
R2343:Dsg2	UTSW	18	20,602,298 (GRCm38)	missense	probably damaging	0.99
R2937:Dsg2	UTSW	18	20,579,128 (GRCm38)	missense	probably damaging	1.00
R3710:Dsg2	UTSW	18	20,602,117 (GRCm38)	missense	probably damaging	1.00
R3734:Dsg2	UTSW	18	20,601,947 (GRCm38)	missense	probably benign	0.41
R3773:Dsg2	UTSW	18	20,591,862 (GRCm38)	missense	probably damaging	1.00
R4176:Dsg2	UTSW	18	20,580,663 (GRCm38)	missense	probably benign	0.25
R4213:Dsg2	UTSW	18	20,598,514 (GRCm38)	missense	probably benign	0.01
R4299:Dsg2	UTSW	18	20,595,951 (GRCm38)	splice site	probably null
R4649:Dsg2	UTSW	18	20,602,245 (GRCm38)	missense	possibly damaging	0.56
R4940:Dsg2	UTSW	18	20,579,430 (GRCm38)	missense	probably damaging	1.00
R4949:Dsg2	UTSW	18	20,590,184 (GRCm38)	missense	probably damaging	1.00
R4998:Dsg2	UTSW	18	20,601,521 (GRCm38)	missense	probably benign	0.26
R5078:Dsg2	UTSW	18	20,596,083 (GRCm38)	critical splice donor site	probably null
R5155:Dsg2	UTSW	18	20,598,658 (GRCm38)	missense	possibly damaging	0.67
R5398:Dsg2	UTSW	18	20,579,133 (GRCm38)	missense	probably benign	0.45
R5503:Dsg2	UTSW	18	20,580,651 (GRCm38)	nonsense	probably null
R6133:Dsg2	UTSW	18	20,590,089 (GRCm38)	missense	probably benign	0.00
R6163:Dsg2	UTSW	18	20,598,669 (GRCm38)	critical splice donor site	probably null
R6226:Dsg2	UTSW	18	20,579,449 (GRCm38)	missense	probably damaging	0.98
R6228:Dsg2	UTSW	18	20,594,293 (GRCm38)	critical splice donor site	probably null
R6241:Dsg2	UTSW	18	20,590,217 (GRCm38)	splice site	probably null
R6482:Dsg2	UTSW	18	20,601,314 (GRCm38)	missense	possibly damaging	0.69
R6524:Dsg2	UTSW	18	20,583,036 (GRCm38)	missense	probably damaging	1.00
R6856:Dsg2	UTSW	18	20,601,802 (GRCm38)	missense	probably damaging	0.98
R7058:Dsg2	UTSW	18	20,592,275 (GRCm38)	missense	probably benign	0.00
R7108:Dsg2	UTSW	18	20,601,863 (GRCm38)	missense	probably damaging	1.00
R7149:Dsg2	UTSW	18	20,579,454 (GRCm38)	missense	probably damaging	0.98
R7207:Dsg2	UTSW	18	20,601,459 (GRCm38)	missense	probably damaging	0.99
R7256:Dsg2	UTSW	18	20,591,931 (GRCm38)	missense	possibly damaging	0.96
R7315:Dsg2	UTSW	18	20,579,160 (GRCm38)	missense	probably damaging	0.97
R7471:Dsg2	UTSW	18	20,580,618 (GRCm38)	missense	probably benign	0.08
R7558:Dsg2	UTSW	18	20,594,234 (GRCm38)	missense	probably benign	0.00
R8094:Dsg2	UTSW	18	20,583,004 (GRCm38)	unclassified	probably benign
R8118:Dsg2	UTSW	18	20,582,801 (GRCm38)	missense	probably benign	0.11
R8157:Dsg2	UTSW	18	20,580,549 (GRCm38)	missense	probably damaging	1.00
R8307:Dsg2	UTSW	18	20,575,064 (GRCm38)	missense	probably benign	0.19
R8308:Dsg2	UTSW	18	20,575,064 (GRCm38)	missense	probably benign	0.19
R8488:Dsg2	UTSW	18	20,601,374 (GRCm38)	missense	probably damaging	1.00
R8520:Dsg2	UTSW	18	20,579,451 (GRCm38)	missense	probably damaging	1.00
R8669:Dsg2	UTSW	18	20,590,075 (GRCm38)	missense	probably damaging	1.00
R8675:Dsg2	UTSW	18	20,601,918 (GRCm38)	missense	possibly damaging	0.75
R8750:Dsg2	UTSW	18	20,575,012 (GRCm38)	missense	possibly damaging	0.90
R8773:Dsg2	UTSW	18	20,582,999 (GRCm38)	missense	probably damaging	1.00
R8888:Dsg2	UTSW	18	20,590,069 (GRCm38)	missense	probably damaging	1.00
R8895:Dsg2	UTSW	18	20,590,069 (GRCm38)	missense	probably damaging	1.00
R8912:Dsg2	UTSW	18	20,582,821 (GRCm38)	missense	probably damaging	1.00
R8925:Dsg2	UTSW	18	20,592,478 (GRCm38)	missense	probably damaging	1.00
R8927:Dsg2	UTSW	18	20,592,478 (GRCm38)	missense	probably damaging	1.00
R9263:Dsg2	UTSW	18	20,594,166 (GRCm38)	missense	probably benign	0.33
R9328:Dsg2	UTSW	18	20,582,790 (GRCm38)	missense	possibly damaging	0.81
Z1176:Dsg2	UTSW	18	20,580,621 (GRCm38)	missense	probably damaging	1.00
Z1177:Dsg2	UTSW	18	20,602,249 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACCAACCATGATGTAGGATGG -3'
(R):5'- CTCATAGTGCGAGCCAGAAG -3'

Sequencing Primer
(F):5'- AACCATGATGTAGGATGGCTTGATTG -3'
(R):5'- AAGCTGCACTCACGCTCG -3'

Posted On

2015-08-18