Mutagenetix > Incidental Mutation

Incidental Mutation 'R8999:Dsg3'

684884

Institutional Source

Beutler Lab

Gene Symbol

Dsg3

Ensembl Gene

ENSMUSG00000056632

Gene Name

desmoglein 3

Synonyms

MMRRC Submission

068830-MU

Accession Numbers

Essential gene?

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

Stock #

R8999 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20643331-20674367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20666684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 631 (L631P)

Ref Sequence

ENSEMBL: ENSMUSP00000064718 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070892
AA Change: L631P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: L631P

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: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,083 (GRCm39)	E245G	possibly damaging	Het
Cd6	A	T	19: 10,776,642 (GRCm39)	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,165 (GRCm39)	D98G	probably benign	Het
Cfap52	T	C	11: 67,818,137 (GRCm39)	K525E	probably damaging	Het
Ddx10	T	C	9: 53,140,534 (GRCm39)	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,018,235 (GRCm39)	T1428A	probably benign	Het
Dusp19	T	A	2: 80,461,271 (GRCm39)	C187S	probably benign	Het
Efcab3	A	T	11: 104,640,477 (GRCm39)	M1072L	probably benign	Het
Fap	T	C	2: 62,367,368 (GRCm39)	H338R	probably benign	Het
Fxyd2	T	C	9: 45,314,295 (GRCm39)		probably benign	Het
Gabrg1	T	A	5: 70,973,378 (GRCm39)	I59F	probably benign	Het
Glb1l3	A	T	9: 26,764,914 (GRCm39)		probably null	Het
Gpr27	T	C	6: 99,669,776 (GRCm39)	I46T	possibly damaging	Het
Igkv8-26	C	A	6: 70,170,514 (GRCm39)	A35E	probably benign	Het
Ikzf1	A	G	11: 11,635,013 (GRCm39)		probably benign	Het
Krt18	A	C	15: 101,939,874 (GRCm39)	E357D	probably damaging	Het
Lbr	C	T	1: 181,646,512 (GRCm39)	G470E	probably damaging	Het
Map2	A	T	1: 66,452,473 (GRCm39)	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,840,817 (GRCm39)	V282A		Het
Men1	G	A	19: 6,389,960 (GRCm39)	V538I	probably benign	Het
Mfn1	T	A	3: 32,623,683 (GRCm39)	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,202,882 (GRCm39)	G1838*	probably null	Het
Msantd5f9	G	C	4: 73,837,420 (GRCm39)	N99K	probably damaging	Het
Mypn	A	T	10: 62,998,050 (GRCm39)	L420*	probably null	Het
Nkx6-1	T	C	5: 101,812,082 (GRCm39)	M7V	unknown	Het
Notum	G	A	11: 120,545,207 (GRCm39)	H451Y	probably benign	Het
Odad2	C	A	18: 7,211,574 (GRCm39)	V767L	possibly damaging	Het
Or11i1	A	T	3: 106,728,999 (GRCm39)	I292N	probably damaging	Het
Or2b28	A	G	13: 21,531,988 (GRCm39)	K297E	probably damaging	Het
Or6c3	A	G	10: 129,309,386 (GRCm39)	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,400,783 (GRCm39)	I287S	probably benign	Het
Pcdha2	C	T	18: 37,073,428 (GRCm39)	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,510,199 (GRCm39)	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,870,993 (GRCm39)	A106T	probably benign	Het
Prkch	T	C	12: 73,742,973 (GRCm39)	V209A	probably damaging	Het
Ptprc	A	G	1: 138,028,930 (GRCm39)	C284R	probably damaging	Het
Ptprf	A	G	4: 118,083,671 (GRCm39)	V804A	probably benign	Het
Rbp3	C	T	14: 33,684,360 (GRCm39)	R1130*	probably null	Het
Serpina6	C	G	12: 103,617,988 (GRCm39)	R275P	probably damaging	Het
Six3	T	A	17: 85,931,164 (GRCm39)	H273Q	probably benign	Het
Stk35	C	A	2: 129,652,509 (GRCm39)	P337T	probably damaging	Het
Supt5	A	G	7: 28,037,848 (GRCm39)	S2P	unknown	Het
Tnik	A	G	3: 28,719,920 (GRCm39)	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,838,960 (GRCm39)	T621A	unknown	Het
Tyrp1	T	C	4: 80,763,094 (GRCm39)	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,060,307 (GRCm39)	S426A	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
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
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
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'- GACAATCAGGATGGGCTGTG -3'
(R):5'- GGAATGTAATTATGAGCACACACC -3'

Sequencing Primer
(F):5'- TGTGACACACCAGAGAGCTTGAC -3'
(R):5'- AGACTGGACTCAGGTTCTCAG -3'

Posted On

2021-10-11