Mutagenetix > Incidental Mutation

Incidental Mutation 'R2143:Dsg2'

236558

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

040146-MU

Accession Numbers

Essential gene?

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

Stock #

R2143 (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 20712218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 118 (I118N)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably damaging
Transcript: ENSMUST00000059787
AA Change: I118N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: I118N

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 damaging
Transcript: ENSMUST00000120102
AA Change: I118N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: I118N

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 damaging
Transcript: ENSMUST00000121837
AA Change: I118N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: I118N

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	C	16: 88,556,053 (GRCm39)	S89T	probably benign	Het
4930522L14Rik	C	G	5: 109,884,616 (GRCm39)	C414S	probably damaging	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
Apobr	G	A	7: 126,186,288 (GRCm39)	E600K	probably benign	Het
Armc8	C	A	9: 99,387,361 (GRCm39)	R419L	probably damaging	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf7ip2	A	G	16: 10,058,509 (GRCm39)	E316G	probably null	Het
Atp2a1	G	A	7: 126,047,897 (GRCm39)	R638*	probably null	Het
Atp8b4	A	T	2: 126,216,430 (GRCm39)	I672N	probably damaging	Het
Atrn	T	C	2: 130,799,916 (GRCm39)	V431A	probably benign	Het
Babam1	T	C	8: 71,851,084 (GRCm39)	S116P	probably damaging	Het
Ccdc142	T	C	6: 83,079,203 (GRCm39)	L180P	probably damaging	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdk17	T	C	10: 93,053,881 (GRCm39)	L125P	probably damaging	Het
Ckap5	A	G	2: 91,396,090 (GRCm39)	D531G	probably benign	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Crispld1	C	T	1: 17,819,860 (GRCm39)	T286I	probably benign	Het
Crtap	T	C	9: 114,209,036 (GRCm39)	Y336C	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Elmo3	T	C	8: 106,035,305 (GRCm39)	V450A	probably damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Enam	T	A	5: 88,640,779 (GRCm39)	M147K	probably benign	Het
Entpd1	T	C	19: 40,725,227 (GRCm39)	Y409H	probably damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fsip2	A	T	2: 82,820,615 (GRCm39)	L5449F	possibly damaging	Het
Gabra5	G	A	7: 57,138,763 (GRCm39)	T95I	probably damaging	Het
Gal3st2c	C	T	1: 93,937,173 (GRCm39)	Q373*	probably null	Het
Gbp5	A	C	3: 142,209,593 (GRCm39)	T180P	probably damaging	Het
Glb1	T	C	9: 114,266,892 (GRCm39)	L212P	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gpat2	T	C	2: 127,275,682 (GRCm39)	F487L	probably damaging	Het
Hsph1	A	T	5: 149,554,951 (GRCm39)	H110Q	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Ildr2	T	C	1: 166,096,895 (GRCm39)	V38A	probably damaging	Het
Inpp4a	G	T	1: 37,426,827 (GRCm39)	C326F	probably damaging	Het
Irak2	T	A	6: 113,649,788 (GRCm39)	V141D	probably benign	Het
Jade1	G	A	3: 41,559,143 (GRCm39)	R408Q	probably benign	Het
Jmjd7	C	A	2: 119,860,601 (GRCm39)		probably null	Het
Kdm7a	C	T	6: 39,145,884 (GRCm39)	V348I	possibly damaging	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krt5	A	G	15: 101,620,794 (GRCm39)	I151T	probably damaging	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc71	C	T	3: 87,652,828 (GRCm39)	W148*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	T	A	2: 121,132,426 (GRCm39)	S843T	probably damaging	Het
Map1s	T	A	8: 71,363,608 (GRCm39)	D48E	probably damaging	Het
Mast4	A	G	13: 102,871,983 (GRCm39)	F2462L	possibly damaging	Het
Mettl21e	T	A	1: 44,249,398 (GRCm39)	Y86F	probably benign	Het
Myh6	A	T	14: 55,190,411 (GRCm39)	D1035E	probably damaging	Het
Naip6	C	T	13: 100,436,367 (GRCm39)	D719N	probably damaging	Het
Nat8f2	T	G	6: 85,845,239 (GRCm39)	H41P	probably benign	Het
Ncam1	T	A	9: 49,454,319 (GRCm39)	Q597L	possibly damaging	Het
Nek1	T	A	8: 61,481,730 (GRCm39)	I215K	probably damaging	Het
Nol11	A	T	11: 107,071,881 (GRCm39)	S237R	probably benign	Het
Npr2	T	C	4: 43,648,166 (GRCm39)	F870S	probably damaging	Het
Nsd1	T	C	13: 55,408,210 (GRCm39)	Y1285H	probably damaging	Het
Nup93	C	T	8: 95,023,108 (GRCm39)	Q229*	probably null	Het
Or4a15	C	T	2: 89,193,447 (GRCm39)	E109K	probably damaging	Het
Or7g12	G	A	9: 18,900,099 (GRCm39)	A272T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Parva	A	G	7: 112,159,274 (GRCm39)	D180G	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pax1	T	A	2: 147,207,802 (GRCm39)	C225S	probably damaging	Het
Pde4dip	T	A	3: 97,795,835 (GRCm39)	E51V	possibly damaging	Het
Pde6c	A	T	19: 38,150,777 (GRCm39)	H562L	probably damaging	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Polr2d	T	A	18: 31,929,132 (GRCm39)	L127Q	probably damaging	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptpn6	T	A	6: 124,701,947 (GRCm39)	H406L	probably benign	Het
Ric1	A	T	19: 29,510,652 (GRCm39)	S78C	probably damaging	Het
Ric1	G	A	19: 29,510,653 (GRCm39)	S78N	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,990,169 (GRCm39)	H639R	probably benign	Het
Sgtb	A	T	13: 104,260,767 (GRCm39)	D72V	probably damaging	Het
Slc44a5	T	C	3: 153,964,086 (GRCm39)	M484T	probably benign	Het
Slc5a1	A	G	5: 33,318,140 (GRCm39)	K598E	probably benign	Het
Slit3	T	A	11: 35,503,088 (GRCm39)		probably null	Het
Smc1b	T	C	15: 85,008,003 (GRCm39)	H258R	probably benign	Het
Smu1	T	C	4: 40,744,073 (GRCm39)	D318G	probably damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Svs3a	C	A	2: 164,131,804 (GRCm39)	S124Y	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tdpoz1	T	A	3: 93,578,143 (GRCm39)	R214*	probably null	Het
Tm2d3	A	G	7: 65,344,987 (GRCm39)	D54G	probably damaging	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Triml2	T	A	8: 43,646,548 (GRCm39)	W346R	probably damaging	Het
Trp53bp1	A	T	2: 121,046,545 (GRCm39)	V1085D	probably benign	Het
Trpv2	T	C	11: 62,483,612 (GRCm39)	V483A	probably benign	Het
Ugp2	G	T	11: 21,278,949 (GRCm39)	N412K	probably benign	Het
Upf1	T	C	8: 70,792,004 (GRCm39)	D418G	probably null	Het
Vmn2r77	C	A	7: 86,461,152 (GRCm39)	P826Q	probably damaging	Het
Vrtn	T	C	12: 84,696,936 (GRCm39)	M562T	probably benign	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Zdhhc6	T	C	19: 55,287,228 (GRCm39)	K411E	probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp280d	A	G	9: 72,220,011 (GRCm39)	N237S	probably damaging	Het
Zfp445	T	G	9: 122,682,547 (GRCm39)	S465R	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	probably 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
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
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'- CAGCTTCTTCAAAAGGACACTGTC -3'
(R):5'- CCAATGCATAGCCTGTCAGC -3'

Sequencing Primer
(F):5'- AGGACACTGTCATTAAATGCTTTC -3'
(R):5'- CCTGTCAGCTGAATTGCAACATG -3'

Posted On

2014-10-01