Mutagenetix > Incidental Mutation

Incidental Mutation 'R7558:Dsg2'

584911

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

045625-MU

Accession Numbers

Essential gene?

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

Stock #

R7558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20727291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 613 (V613I)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably benign
Transcript: ENSMUST00000059787
AA Change: V613I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: V613I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,466,285 (GRCm39)		probably null	Het
Adgrg6	A	T	10: 14,307,351 (GRCm39)	M817K	probably damaging	Het
Adh6b	T	A	3: 138,058,297 (GRCm39)	D53E	probably benign	Het
Ap3d1	A	G	10: 80,558,755 (GRCm39)	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,860,421 (GRCm39)	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,981,304 (GRCm39)	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,557,304 (GRCm39)	V641E	probably damaging	Het
Clvs2	A	T	10: 33,419,460 (GRCm39)	I198N	probably damaging	Het
Cplane1	C	T	15: 8,254,851 (GRCm39)	R13C	unknown	Het
Dbndd2	T	C	2: 164,332,136 (GRCm39)	S120P	probably benign	Het
Dsp	A	G	13: 38,352,742 (GRCm39)	M207V	probably benign	Het
Fignl2	T	C	15: 100,952,264 (GRCm39)	E6G	probably damaging	Het
Fmod	A	G	1: 133,968,731 (GRCm39)	Y257C	probably benign	Het
Foxk2	T	C	11: 121,178,884 (GRCm39)	S239P	probably benign	Het
Fstl5	C	T	3: 76,337,092 (GRCm39)	T217I	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm45140	G	A	6: 87,798,511 (GRCm39)	S34F		Het
H2-Q6	A	G	17: 35,644,595 (GRCm39)	E128G	probably benign	Het
Hmmr	A	G	11: 40,624,156 (GRCm39)	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497 (GRCm39)	N239K	probably damaging	Het
Itpr2	G	T	6: 146,292,363 (GRCm39)	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,450,928 (GRCm39)	I736F	probably damaging	Het
Kctd11	A	T	11: 69,770,416 (GRCm39)	H207Q	probably benign	Het
Kif16b	A	T	2: 142,600,746 (GRCm39)	D462E	probably damaging	Het
Kif5a	G	A	10: 127,083,948 (GRCm39)	T81I	probably damaging	Het
Lemd2	C	A	17: 27,423,137 (GRCm39)	A86S	probably benign	Het
Lrp1b	T	C	2: 41,231,948 (GRCm39)	D1174G		Het
Lrrc8b	G	T	5: 105,629,577 (GRCm39)	W641L	probably damaging	Het
Malt1	T	C	18: 65,595,905 (GRCm39)	C438R	probably damaging	Het
Marchf8	T	C	6: 116,380,526 (GRCm39)	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,723,797 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,247,088 (GRCm39)	T679S	probably benign	Het
Or52n4b	C	G	7: 108,143,928 (GRCm39)	Y65*	probably null	Het
Or5b3	T	A	19: 13,388,355 (GRCm39)	C141S	probably damaging	Het
Otog	C	A	7: 45,952,584 (GRCm39)	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,188,413 (GRCm39)	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,311,782 (GRCm39)	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,511,766 (GRCm39)	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,391,628 (GRCm39)	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,003,406 (GRCm39)	R436C	probably damaging	Het
Rpap1	A	T	2: 119,601,735 (GRCm39)	F742I	probably benign	Het
Ryr2	G	A	13: 11,814,711 (GRCm39)	T687M	probably damaging	Het
Sec16a	A	T	2: 26,329,746 (GRCm39)	F7L		Het
Slc14a2	A	G	18: 78,235,334 (GRCm39)	I143T	probably benign	Het
Slc22a26	T	A	19: 7,762,651 (GRCm39)	M430L	possibly damaging	Het
Smarcc1	C	A	9: 109,976,184 (GRCm39)	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,204,991 (GRCm39)	I375T	probably benign	Het
Tmprss15	T	C	16: 78,800,302 (GRCm39)	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,498,903 (GRCm39)	Q739K	probably benign	Het
Trio	T	A	15: 27,831,480 (GRCm39)	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,756,029 (GRCm39)	F91L	probably damaging	Het
Vax1	T	C	19: 59,158,416 (GRCm39)	T16A	unknown	Het
Vps13d	T	G	4: 144,881,150 (GRCm39)	H1481P		Het
Zbtb7a	A	G	10: 80,984,269 (GRCm39)	*570W	probably null	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
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
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'- GCCACATTAAGACCTGTCTCTC -3'
(R):5'- TGCAAAGCACACTTGGATTGG -3'

Sequencing Primer
(F):5'- AAGACCTGTCTCTCCTCTCAACAG -3'
(R):5'- GCACACTTGGATTGGAATAAACTG -3'

Posted On

2019-10-17