Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Dsg2'

225268

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20734530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 836 (K836R)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably damaging
Transcript: ENSMUST00000059787
AA Change: K836R

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

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: K836R

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

0.2680

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Afap1l2	A	T	19: 56,990,699 (GRCm39)	I18N	possibly damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,094,644 (GRCm39)	S48P	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,088,916 (GRCm39)	N466D	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,629,257 (GRCm39)	E523G	probably benign	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Bag3	C	T	7: 128,147,407 (GRCm39)	H341Y	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cep290	T	A	10: 100,367,046 (GRCm39)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cped1	A	G	6: 22,233,926 (GRCm39)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm39)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dnai3	G	T	3: 145,769,235 (GRCm39)	T522K	possibly damaging	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Erc2	A	G	14: 27,733,593 (GRCm39)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fhad1	T	C	4: 141,709,473 (GRCm39)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,134,132 (GRCm39)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,759,202 (GRCm39)	M270L	probably benign	Het
Grin3b	C	A	10: 79,806,746 (GRCm39)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,810,480 (GRCm39)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,516,480 (GRCm39)	V157D	probably damaging	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Krt81	T	C	15: 101,360,435 (GRCm39)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lin54	A	G	5: 100,633,660 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Manba	T	A	3: 135,256,952 (GRCm39)	D538E	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mfap4	T	C	11: 61,376,633 (GRCm39)		probably null	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek4	A	G	14: 30,678,910 (GRCm39)	I145V	probably damaging	Het
Nlrp14	T	C	7: 106,795,407 (GRCm39)	V230A	probably benign	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Or11h6	G	A	14: 50,880,323 (GRCm39)	C195Y	possibly damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or6k8-ps1	C	T	1: 173,979,687 (GRCm39)	H202Y	probably damaging	Het
Pcdhb13	C	T	18: 37,576,912 (GRCm39)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,204,828 (GRCm39)	L188R	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,198,936 (GRCm39)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,321,201 (GRCm39)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,431,895 (GRCm39)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,817,655 (GRCm39)	D203A	probably damaging	Het
Psg17	A	G	7: 18,548,577 (GRCm39)	V398A	probably benign	Het
Pum1	T	A	4: 130,445,529 (GRCm39)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,096,753 (GRCm39)	D108E	probably damaging	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,343,252 (GRCm39)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,452,293 (GRCm39)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint5	T	C	2: 164,558,903 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,484,174 (GRCm39)		probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,288,360 (GRCm39)		probably benign	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim30a	T	A	7: 104,079,437 (GRCm39)		probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm39)	I279T	probably benign	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ush2a	C	T	1: 188,310,729 (GRCm39)		probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm39)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,001,853 (GRCm39)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,994,305 (GRCm39)	V448A	probably damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,313,452 (GRCm39)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	Het
Zfr2	A	T	10: 81,078,686 (GRCm39)	D306V	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTTTAGAAAGCGGCCTCC -3'
(R):5'- TCTCAGTGACGATTTCCTGTG -3'

Sequencing Primer
(F):5'- GTTTAGAAAGCGGCCTCCTACAATG -3'
(R):5'- CAGTGACGATTTCCTGTGTGACTTTC -3'

Posted On

2014-08-25