Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Dsg2'

24939

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

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

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20558074-20604521 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 20582695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]

AlphaFold

O55111

Predicted Effect

probably benign
Transcript: ENSMUST00000059787

SMART Domains

Protein: ENSMUSP00000057096
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
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

Predicted Effect

probably benign
Transcript: ENSMUST00000121837

SMART Domains

Protein: ENSMUSP00000113029
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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,574,636 (GRCm38)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,273,311 (GRCm38)		probably benign	Het
Ada	T	C	2: 163,728,157 (GRCm38)	K312R	probably benign	Het
Adam21	C	A	12: 81,560,285 (GRCm38)	K234N	possibly damaging	Het
Afdn	T	A	17: 13,888,514 (GRCm38)		probably null	Het
Aimp1	T	G	3: 132,673,986 (GRCm38)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 45,147,979 (GRCm38)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,167,379 (GRCm38)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,089,602 (GRCm38)	E25G	probably benign	Het
Apob	A	T	12: 8,012,210 (GRCm38)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,501,109 (GRCm38)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,519,579 (GRCm38)	Q137*	probably null	Het
Cenpo	A	T	12: 4,216,660 (GRCm38)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,378,455 (GRCm38)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,448,939 (GRCm38)	T271A	probably damaging	Het
Dcps	A	G	9: 35,175,769 (GRCm38)		probably null	Het
Dnaic2	A	G	11: 114,752,894 (GRCm38)	D462G	probably benign	Het
Eomes	A	T	9: 118,484,757 (GRCm38)	E623D	probably benign	Het
Fam19a5	T	A	15: 87,720,508 (GRCm38)	I83N	probably damaging	Het
Fras1	A	T	5: 96,596,888 (GRCm38)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,444,803 (GRCm38)		noncoding transcript	Het
Galk2	A	G	2: 125,887,888 (GRCm38)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,119,368 (GRCm38)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,979,412 (GRCm38)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,311,103 (GRCm38)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,114,397 (GRCm38)	A246T	probably benign	Het
Kpna6	G	T	4: 129,649,249 (GRCm38)	R458S	probably benign	Het
Lifr	A	G	15: 7,177,501 (GRCm38)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,865,707 (GRCm38)	I768S	probably damaging	Het
Map2	T	C	1: 66,413,094 (GRCm38)	V223A	probably benign	Het
Nod2	G	A	8: 88,665,323 (GRCm38)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,519,283 (GRCm38)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm38)	I242F	probably damaging	Het
Olfr507	G	A	7: 108,622,585 (GRCm38)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,087 (GRCm38)		probably benign	Het
Pik3cb	A	G	9: 99,064,076 (GRCm38)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,712,728 (GRCm38)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,524,078 (GRCm38)		probably benign	Het
Sh3tc1	T	G	5: 35,723,999 (GRCm38)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,557,537 (GRCm38)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,398,396 (GRCm38)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm38)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,817,753 (GRCm38)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,396,736 (GRCm38)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,245,829 (GRCm38)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,802,503 (GRCm38)	E104G	probably benign	Het
Sult4a1	A	G	15: 84,086,667 (GRCm38)	V179A	probably damaging	Het
Tbl3	G	A	17: 24,705,461 (GRCm38)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,838,911 (GRCm38)		probably benign	Het
Tmigd1	A	G	11: 76,907,134 (GRCm38)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,779,658 (GRCm38)		probably benign	Het
Unc79	T	A	12: 103,113,200 (GRCm38)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 64,089,666 (GRCm38)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,427,543 (GRCm38)	I400V	probably benign	Het
Vwa8	T	A	14: 79,009,273 (GRCm38)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,215,836 (GRCm38)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,774,035 (GRCm38)		probably benign	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
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
R4515:Dsg2	UTSW	18	20,601,387 (GRCm38)	missense	probably benign
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'- ATGTACCTCCAGGGCAGAGCAAAC -3'
(R):5'- TCAGAGCCCACTTCATCTGCATCG -3'

Sequencing Primer
(F):5'- GACTATCCCTGGTGACACATAGTTG -3'
(R):5'- GCATGACTTCTACATTGACCTGG -3'

Posted On

2013-04-16