Mutagenetix > Incidental Mutation

Incidental Mutation 'P0035:Dsg3'

7653

Institutional Source

Beutler Lab

Gene Symbol

Dsg3

Ensembl Gene

ENSMUSG00000056632

Gene Name

desmoglein 3

Synonyms

MMRRC Submission

038285-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

P0035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20643331-20674367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20673026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 899 (N899T)

Ref Sequence

ENSEMBL: ENSMUSP00000064718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070892]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070892
AA Change: N899T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: N899T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.9e-13	SMART
CA	179	265	2.36e-21	SMART
CA	288	382	1.55e-7	SMART
CA	409	493	6.15e-11	SMART
low complexity region	615	638	N/A	INTRINSIC
low complexity region	643	657	N/A	INTRINSIC
low complexity region	725	736	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 79.0%
3x: 68.4%
10x: 37.5%
20x: 15.8%

Validation Efficiency

82% (103/125)

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 exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	C	T	17: 32,431,812 (GRCm39)		probably null	Het
Bub1b	G	A	2: 118,452,666 (GRCm39)	E440K	probably damaging	Het
Cfap70	A	G	14: 20,474,539 (GRCm39)		probably benign	Het
Cryba2	A	G	1: 74,929,171 (GRCm39)	S191P	probably damaging	Het
Htr2b	A	T	1: 86,038,452 (GRCm39)	H51Q	probably benign	Het
Lmod2	T	C	6: 24,597,885 (GRCm39)	S2P	probably damaging	Het
Lrrc37a	T	A	11: 103,393,958 (GRCm39)	E489V	possibly damaging	Het
Mdn1	A	T	4: 32,749,934 (GRCm39)	Q4372H	probably benign	Het
Med13l	C	T	5: 118,880,685 (GRCm39)	T1259I	probably benign	Het
Muc4	T	C	16: 32,580,622 (GRCm39)		probably benign	Het
Pcsk2	C	T	2: 143,637,871 (GRCm39)	T369I	probably damaging	Het
Pggt1b	G	C	18: 46,392,787 (GRCm39)	H121Q	probably damaging	Het
Pkhd1	T	C	1: 20,187,571 (GRCm39)	D3579G	probably benign	Het
Psd	T	C	19: 46,309,400 (GRCm39)	E520G	possibly damaging	Het
Scfd2	A	T	5: 74,385,980 (GRCm39)	M613K	possibly damaging	Het
Tbc1d32	A	C	10: 56,074,535 (GRCm39)	F226C	probably damaging	Het
Ttc8	T	C	12: 98,942,675 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,009,086 (GRCm39)	S351P	probably benign	Het

Other mutations in Dsg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Dsg3	APN	18	20,672,711 (GRCm39)	missense	probably damaging	1.00
IGL00697:Dsg3	APN	18	20,657,746 (GRCm39)	critical splice donor site	probably null
IGL00966:Dsg3	APN	18	20,656,664 (GRCm39)	missense	probably benign	0.02
IGL01352:Dsg3	APN	18	20,656,753 (GRCm39)	missense	probably benign	0.25
IGL01953:Dsg3	APN	18	20,658,361 (GRCm39)	missense	probably damaging	1.00
IGL02385:Dsg3	APN	18	20,660,771 (GRCm39)	missense	probably damaging	1.00
IGL02622:Dsg3	APN	18	20,662,004 (GRCm39)	splice site	probably benign
IGL02643:Dsg3	APN	18	20,662,012 (GRCm39)	missense	probably benign	0.00
IGL02740:Dsg3	APN	18	20,660,765 (GRCm39)	missense	possibly damaging	0.93
IGL03012:Dsg3	APN	18	20,670,300 (GRCm39)	critical splice acceptor site	probably null
IGL03026:Dsg3	APN	18	20,670,029 (GRCm39)	splice site	probably null
IGL03063:Dsg3	APN	18	20,666,425 (GRCm39)	splice site	probably benign
IGL03098:Dsg3	APN	18	20,643,422 (GRCm39)	utr 5 prime	probably benign
IGL03132:Dsg3	APN	18	20,657,653 (GRCm39)	missense	probably damaging	1.00
IGL03352:Dsg3	APN	18	20,660,689 (GRCm39)	missense	probably benign
R0039:Dsg3	UTSW	18	20,654,541 (GRCm39)	missense	probably benign	0.36
R0099:Dsg3	UTSW	18	20,673,079 (GRCm39)	missense	probably benign	0.01
R0109:Dsg3	UTSW	18	20,673,191 (GRCm39)	missense	probably damaging	0.96
R0109:Dsg3	UTSW	18	20,673,191 (GRCm39)	missense	probably damaging	0.96
R0143:Dsg3	UTSW	18	20,669,882 (GRCm39)	missense	probably damaging	1.00
R0194:Dsg3	UTSW	18	20,673,199 (GRCm39)	missense	probably damaging	1.00
R0373:Dsg3	UTSW	18	20,672,804 (GRCm39)	missense	probably damaging	1.00
R0517:Dsg3	UTSW	18	20,662,082 (GRCm39)	missense	probably benign	0.06
R0521:Dsg3	UTSW	18	20,660,872 (GRCm39)	missense	possibly damaging	0.53
R1194:Dsg3	UTSW	18	20,658,277 (GRCm39)	missense	probably damaging	0.98
R1551:Dsg3	UTSW	18	20,669,975 (GRCm39)	missense	possibly damaging	0.84
R1762:Dsg3	UTSW	18	20,672,789 (GRCm39)	missense	probably damaging	1.00
R1957:Dsg3	UTSW	18	20,655,162 (GRCm39)	missense	probably damaging	1.00
R2061:Dsg3	UTSW	18	20,660,794 (GRCm39)	nonsense	probably null
R2071:Dsg3	UTSW	18	20,669,882 (GRCm39)	missense	probably damaging	1.00
R2513:Dsg3	UTSW	18	20,656,719 (GRCm39)	missense	possibly damaging	0.48
R2571:Dsg3	UTSW	18	20,673,062 (GRCm39)	missense	probably benign	0.01
R2945:Dsg3	UTSW	18	20,672,992 (GRCm39)	missense	probably benign
R2968:Dsg3	UTSW	18	20,658,282 (GRCm39)	missense	possibly damaging	0.75
R3906:Dsg3	UTSW	18	20,671,556 (GRCm39)	missense	probably damaging	1.00
R4616:Dsg3	UTSW	18	20,664,616 (GRCm39)	missense	probably benign
R4641:Dsg3	UTSW	18	20,653,615 (GRCm39)	missense	probably benign	0.28
R4685:Dsg3	UTSW	18	20,672,793 (GRCm39)	missense	probably benign	0.08
R5690:Dsg3	UTSW	18	20,655,108 (GRCm39)	missense	probably benign	0.01
R5786:Dsg3	UTSW	18	20,654,628 (GRCm39)	missense	possibly damaging	0.46
R5950:Dsg3	UTSW	18	20,671,586 (GRCm39)	missense	probably damaging	1.00
R6131:Dsg3	UTSW	18	20,653,534 (GRCm39)	splice site	probably null
R6131:Dsg3	UTSW	18	20,671,569 (GRCm39)	missense	probably damaging	0.99
R6243:Dsg3	UTSW	18	20,672,781 (GRCm39)	missense	probably damaging	1.00
R6315:Dsg3	UTSW	18	20,657,643 (GRCm39)	missense	probably benign	0.08
R6327:Dsg3	UTSW	18	20,672,927 (GRCm39)	missense	probably benign
R6418:Dsg3	UTSW	18	20,656,817 (GRCm39)	critical splice donor site	probably null
R6464:Dsg3	UTSW	18	20,666,583 (GRCm39)	missense	probably benign	0.00
R6497:Dsg3	UTSW	18	20,670,305 (GRCm39)	missense	probably benign	0.33
R6518:Dsg3	UTSW	18	20,666,479 (GRCm39)	missense	probably benign	0.23
R6551:Dsg3	UTSW	18	20,672,968 (GRCm39)	missense	unknown
R6685:Dsg3	UTSW	18	20,653,672 (GRCm39)	critical splice donor site	probably null
R6952:Dsg3	UTSW	18	20,658,216 (GRCm39)	missense	possibly damaging	0.77
R7357:Dsg3	UTSW	18	20,672,840 (GRCm39)	missense	probably damaging	1.00
R7385:Dsg3	UTSW	18	20,673,254 (GRCm39)	missense	possibly damaging	0.52
R7456:Dsg3	UTSW	18	20,664,420 (GRCm39)	missense	probably benign	0.17
R7506:Dsg3	UTSW	18	20,666,521 (GRCm39)	missense	probably benign	0.31
R7570:Dsg3	UTSW	18	20,660,837 (GRCm39)	missense	possibly damaging	0.95
R7980:Dsg3	UTSW	18	20,664,417 (GRCm39)	missense	probably benign	0.00
R8100:Dsg3	UTSW	18	20,662,028 (GRCm39)	missense	probably benign	0.08
R8147:Dsg3	UTSW	18	20,673,130 (GRCm39)	missense	probably benign
R8242:Dsg3	UTSW	18	20,669,980 (GRCm39)	missense	possibly damaging	0.93
R8415:Dsg3	UTSW	18	20,656,765 (GRCm39)	missense	probably damaging	1.00
R8494:Dsg3	UTSW	18	20,673,271 (GRCm39)	missense	probably benign	0.03
R8930:Dsg3	UTSW	18	20,672,718 (GRCm39)	missense	probably damaging	1.00
R8932:Dsg3	UTSW	18	20,672,718 (GRCm39)	missense	probably damaging	1.00
R8998:Dsg3	UTSW	18	20,666,684 (GRCm39)	missense	probably damaging	1.00
R8999:Dsg3	UTSW	18	20,666,684 (GRCm39)	missense	probably damaging	1.00
R9336:Dsg3	UTSW	18	20,657,742 (GRCm39)	missense	probably benign	0.19
R9498:Dsg3	UTSW	18	20,658,278 (GRCm39)	missense	probably damaging	0.98
R9598:Dsg3	UTSW	18	20,672,789 (GRCm39)	missense	probably damaging	1.00
R9601:Dsg3	UTSW	18	20,666,578 (GRCm39)	missense	probably damaging	1.00
R9748:Dsg3	UTSW	18	20,672,761 (GRCm39)	missense	possibly damaging	0.87
R9794:Dsg3	UTSW	18	20,673,154 (GRCm39)	missense	probably benign	0.00

Posted On

2012-10-29