Mutagenetix > Incidental Mutation

Incidental Mutation 'R4949:Dsg2'

383687

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

042546-MU

Accession Numbers

Essential gene?

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

Stock #

R4949 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20723241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 422 (D422E)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102]

AlphaFold

O55111

Predicted Effect

probably damaging
Transcript: ENSMUST00000059787
AA Change: D422E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: D422E

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 benign
Transcript: ENSMUST00000120102

SMART Domains

Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.3%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,769,450 (GRCm39)	V692A	probably benign	Het
Bcl2l13	G	T	6: 120,864,191 (GRCm39)	G382W	probably damaging	Het
Cdhr5	T	A	7: 140,852,557 (GRCm39)	N353I	probably damaging	Het
Chil4	A	G	3: 106,113,408 (GRCm39)	S170P	possibly damaging	Het
Clp1	A	C	2: 84,554,086 (GRCm39)	M361R	possibly damaging	Het
Cylc2	A	G	4: 51,229,804 (GRCm39)	K382R	unknown	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Gm14295	A	C	2: 176,501,469 (GRCm39)	T320P	probably damaging	Het
Ido2	T	G	8: 25,023,970 (GRCm39)		probably null	Het
Ift140	T	A	17: 25,313,639 (GRCm39)	S1357T	probably benign	Het
Insr	T	G	8: 3,235,059 (GRCm39)	E145A	probably benign	Het
Itpripl1	A	G	2: 126,983,327 (GRCm39)	M265T	probably benign	Het
Kcnb1	G	T	2: 166,947,521 (GRCm39)	N442K	probably damaging	Het
Kifc5b	C	A	17: 27,144,488 (GRCm39)	R536S	probably damaging	Het
Klf6	A	T	13: 5,914,947 (GRCm39)	S129C	probably benign	Het
Lpin2	C	G	17: 71,538,334 (GRCm39)	P327A	probably damaging	Het
Lsm1	T	C	8: 26,292,065 (GRCm39)	V114A	probably benign	Het
Map7d1	C	T	4: 126,128,846 (GRCm39)	W218*	probably null	Het
N4bp2	T	A	5: 65,979,142 (GRCm39)		probably null	Het
Nt5el	T	A	13: 105,246,214 (GRCm39)	S258R	probably damaging	Het
Rheb	A	T	5: 25,008,729 (GRCm39)	I163K	possibly damaging	Het
Rph3a	T	C	5: 121,101,897 (GRCm39)	D113G	probably damaging	Het
Scn8a	A	G	15: 100,927,663 (GRCm39)	N1381D	probably damaging	Het
Sdsl	T	A	5: 120,597,870 (GRCm39)	N208Y	possibly damaging	Het
Serpinb9e	A	G	13: 33,435,591 (GRCm39)	N8S	possibly damaging	Het
Sox18	G	A	2: 181,313,017 (GRCm39)	Q100*	probably null	Het
Taar8b	C	T	10: 23,967,825 (GRCm39)	C123Y	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tes	C	A	6: 17,100,359 (GRCm39)	H331N	probably benign	Het
Tmbim1	T	G	1: 74,334,524 (GRCm39)	D12A	probably damaging	Het
Tmprss4	T	C	9: 45,086,841 (GRCm39)	I307V	possibly damaging	Het
Ttll1	A	T	15: 83,386,374 (GRCm39)	M77K	probably null	Het
Ttpal	G	A	2: 163,455,671 (GRCm39)	R220Q	probably damaging	Het
Vmn1r230	T	A	17: 21,067,625 (GRCm39)	H271Q	probably benign	Het
Vmn2r32	A	G	7: 7,467,083 (GRCm39)	I815T	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
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

Predicted Primers

PCR Primer
(F):5'- ACAAGTCCATTCTGAGCAAGTAC -3'
(R):5'- AGGCTTGATAACAGCTTATGTGG -3'

Sequencing Primer
(F):5'- GTCCATTCTGAGCAAGTACAAGGC -3'
(R):5'- ATATGAGCAGGTGCCCTCAG -3'

Posted On

2016-04-27