Mutagenetix > Incidental Mutation

Incidental Mutation 'R1433:Dsg2'

159348

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

039488-MU

Accession Numbers

Essential gene?

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

Stock #

R1433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20715780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 241 (S241P)

Ref Sequence

ENSEMBL: ENSMUSP00000113029 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably damaging
Transcript: ENSMUST00000059787
AA Change: S241P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: S241P

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: S241P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: S241P

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: S241P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: S241P

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: 97.9%
10x: 94.8%
20x: 87.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	C	T	12: 30,945,934 (GRCm39)	E140K	possibly damaging	Het
Acsm4	T	A	7: 119,293,042 (GRCm39)	D57E	probably damaging	Het
Adamts9	A	G	6: 92,826,271 (GRCm39)		probably null	Het
Aen	T	A	7: 78,557,060 (GRCm39)	Y303N	probably damaging	Het
Alcam	T	C	16: 52,116,115 (GRCm39)		probably null	Het
Apol7b	A	G	15: 77,309,746 (GRCm39)	L17P	probably damaging	Het
Cacna1c	A	T	6: 118,629,754 (GRCm39)	Y1058*	probably null	Het
Camk2d	T	C	3: 126,601,873 (GRCm39)	V354A	probably benign	Het
Carf	T	G	1: 60,164,017 (GRCm39)	M43R	probably damaging	Het
Casp8	T	A	1: 58,863,283 (GRCm39)	F81Y	probably damaging	Het
Cd74	G	A	18: 60,937,064 (GRCm39)	R20H	probably benign	Het
Cers5	A	T	15: 99,643,812 (GRCm39)	Y16*	probably null	Het
Chuk	A	T	19: 44,067,397 (GRCm39)	M586K	probably null	Het
D130043K22Rik	C	A	13: 25,055,324 (GRCm39)	P496Q	probably damaging	Het
Dab2	A	G	15: 6,459,419 (GRCm39)	R311G	probably damaging	Het
Depp1	A	T	6: 116,629,223 (GRCm39)	S189C	possibly damaging	Het
Diaph1	A	T	18: 38,038,187 (GRCm39)	I48N	unknown	Het
Dnajc13	T	C	9: 104,057,320 (GRCm39)	D1560G	probably damaging	Het
Efcab5	T	C	11: 76,996,204 (GRCm39)	D1119G	probably benign	Het
Efr3a	G	T	15: 65,740,906 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,550,427 (GRCm39)	K814E	probably damaging	Het
Hic2	A	G	16: 17,076,686 (GRCm39)	D505G	probably benign	Het
Ing1	T	A	8: 11,607,010 (GRCm39)	V34D	probably damaging	Het
Inpp5k	A	G	11: 75,528,317 (GRCm39)	M172V	probably benign	Het
Itgae	T	C	11: 73,006,418 (GRCm39)	V362A	probably damaging	Het
Lama2	T	A	10: 27,063,750 (GRCm39)	R1346S	probably damaging	Het
Lrrc7	T	C	3: 157,882,943 (GRCm39)	N450S	probably damaging	Het
Lrrn3	T	A	12: 41,502,583 (GRCm39)	Y578F	possibly damaging	Het
Maml2	A	T	9: 13,617,797 (GRCm39)	N381I	probably damaging	Het
Mettl15	T	G	2: 108,923,266 (GRCm39)	E385D	probably benign	Het
Mthfr	T	A	4: 148,139,900 (GRCm39)	I623N	possibly damaging	Het
Muc4	A	C	16: 32,574,448 (GRCm39)	N966T	probably benign	Het
Myoc	A	G	1: 162,476,565 (GRCm39)	Y423C	probably damaging	Het
Ncoa2	A	T	1: 13,218,602 (GRCm39)	M1409K	probably benign	Het
Ncor2	T	C	5: 125,187,039 (GRCm39)		probably benign	Het
Numb	T	C	12: 83,844,033 (GRCm39)	E395G	probably damaging	Het
Oas1g	A	G	5: 121,020,012 (GRCm39)	F198S	probably damaging	Het
Or2b28	T	C	13: 21,531,194 (GRCm39)	V32A	probably benign	Het
Or5k17	A	G	16: 58,746,049 (GRCm39)	V295A	probably benign	Het
Prdm13	T	A	4: 21,678,909 (GRCm39)	Y527F	probably damaging	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp1	T	A	10: 79,699,107 (GRCm39)	I555N	probably damaging	Het
Ptchd4	A	T	17: 42,814,606 (GRCm39)	T836S	possibly damaging	Het
Rlbp1	T	C	7: 79,033,686 (GRCm39)	D3G	probably benign	Het
Sdk2	T	C	11: 113,685,871 (GRCm39)	E1883G	probably damaging	Het
Serpinc1	A	T	1: 160,820,974 (GRCm39)	K140N	probably damaging	Het
Serpind1	A	T	16: 17,160,249 (GRCm39)	Y382F	probably damaging	Het
Slc28a3	T	C	13: 58,710,920 (GRCm39)	E534G	probably damaging	Het
Slco1a7	A	G	6: 141,711,429 (GRCm39)	M94T	probably benign	Het
Ttyh2	T	A	11: 114,601,005 (GRCm39)	I418N	probably benign	Het
Tubgcp4	C	T	2: 121,005,905 (GRCm39)	Q98*	probably null	Het
Ugt2a2	A	G	5: 87,611,965 (GRCm39)	L315P	probably damaging	Het
Vwa1	A	T	4: 155,857,358 (GRCm39)	S147T	probably damaging	Het
Xylt1	T	C	7: 117,191,179 (GRCm39)	V325A	possibly damaging	Het
Zfp335	T	C	2: 164,741,376 (GRCm39)	H685R	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
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
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'- ATGTACCTCCAGGGCAGAGCAAAC -3'
(R):5'- CGGTCACTTTGATCCGCATGACTTC -3'

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

Posted On

2014-03-14