Mutagenetix > Incidental Mutation

Incidental Mutation 'R8494:Dsg3'

658209

Institutional Source

Beutler Lab

Gene Symbol

Dsg3

Ensembl Gene

ENSMUSG00000056632

Gene Name

desmoglein 3

Synonyms

MMRRC Submission

067936-MU

Accession Numbers

Essential gene?

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

Stock #

R8494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20643331-20674367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20673271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 981 (Y981N)

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: Y981N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: Y981N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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 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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,327,821 (GRCm39)	M1420L	probably benign	Het
Adamts14	T	A	10: 61,038,708 (GRCm39)	H934L	probably benign	Het
Adamtsl1	T	C	4: 86,240,221 (GRCm39)	C661R	probably damaging	Het
Akap5	A	G	12: 76,376,455 (GRCm39)	D629G	probably benign	Het
Anapc16	A	T	10: 59,832,340 (GRCm39)		probably benign	Het
Ankar	T	C	1: 72,697,953 (GRCm39)	I758V	probably benign	Het
Apc2	G	T	10: 80,150,313 (GRCm39)	R1760L	probably damaging	Het
C1qb	T	C	4: 136,608,115 (GRCm39)	T83A	probably benign	Het
Canx	T	A	11: 50,202,609 (GRCm39)		probably null	Het
Cblb	T	A	16: 52,025,003 (GRCm39)	I966K	probably damaging	Het
Crocc2	A	T	1: 93,144,788 (GRCm39)	Q1444L	probably damaging	Het
Dennd4c	C	T	4: 86,759,312 (GRCm39)	P1781S	probably damaging	Het
Diaph3	T	C	14: 87,274,958 (GRCm39)	Y166C	probably benign	Het
Dnah5	A	C	15: 28,345,977 (GRCm39)	N2439T	probably benign	Het
Esrp2	C	T	8: 106,861,350 (GRCm39)	V150M	probably damaging	Het
Fbxo15	T	G	18: 84,982,252 (GRCm39)	F235V	probably damaging	Het
Ffar2	A	T	7: 30,519,164 (GRCm39)	Y125*	probably null	Het
Gm1110	T	A	9: 26,792,154 (GRCm39)	D622V	probably benign	Het
Gpcpd1	A	G	2: 132,386,355 (GRCm39)	V341A	probably damaging	Het
Gpx3	G	A	11: 54,793,846 (GRCm39)	V19I	probably benign	Het
Hadha	T	C	5: 30,347,810 (GRCm39)	I160M	probably damaging	Het
Igkv3-4	G	T	6: 70,649,147 (GRCm39)	V49F	probably damaging	Het
Kcng1	A	G	2: 168,105,018 (GRCm39)	V276A	probably damaging	Het
Kif7	A	T	7: 79,360,145 (GRCm39)	V364D	probably benign	Het
Kirrel3	A	G	9: 34,902,341 (GRCm39)	I182V	probably benign	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Mcm9	G	A	10: 53,501,856 (GRCm39)	T243M	possibly damaging	Het
Micall1	T	C	15: 79,005,080 (GRCm39)	L184P	probably damaging	Het
Mief1	T	A	15: 80,133,593 (GRCm39)	C217S	probably benign	Het
Mier2	T	C	10: 79,377,546 (GRCm39)	D469G	probably damaging	Het
Mst1r	T	G	9: 107,791,718 (GRCm39)	W799G	possibly damaging	Het
Mybpc1	C	T	10: 88,362,291 (GRCm39)	V950I	probably benign	Het
Neurl4	A	G	11: 69,801,871 (GRCm39)	D1296G	probably benign	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Parg	T	A	14: 31,930,978 (GRCm39)	H199Q	probably benign	Het
Pcnx3	C	A	19: 5,725,404 (GRCm39)	D1170Y	probably damaging	Het
Phactr1	T	A	13: 43,250,144 (GRCm39)	V487E	probably damaging	Het
Selp	T	G	1: 163,957,835 (GRCm39)		probably null	Het
Smpd3	T	C	8: 106,981,982 (GRCm39)	E626G	probably damaging	Het
Syn3	A	G	10: 86,190,265 (GRCm39)	L188P	probably damaging	Het
Tle1	T	C	4: 72,043,241 (GRCm39)	I543V	possibly damaging	Het
Trp53rkb	A	G	2: 166,637,779 (GRCm39)	*245W	probably null	Het
Ttc28	A	G	5: 111,383,506 (GRCm39)	R1336G	probably damaging	Het
Vps13b	T	A	15: 35,422,594 (GRCm39)	W185R	probably damaging	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
P0035:Dsg3	UTSW	18	20,673,026 (GRCm39)	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTGGGAACTACTTGCTCAC -3'
(R):5'- GATGCTTGGGAAATATACCTGTC -3'

Sequencing Primer
(F):5'- TTGGGAACTACTTGCTCACAGAAAC -3'
(R):5'- GACAACATACCCAGCTTTCATATATG -3'

Posted On

2021-01-18