Mutagenetix > Incidental Mutation

Incidental Mutation 'R6952:Dsg3'

543306

Institutional Source

Beutler Lab

Gene Symbol

Dsg3

Ensembl Gene

ENSMUSG00000056632

Gene Name

desmoglein 3

Synonyms

MMRRC Submission

045064-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R6952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20643331-20674367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20658216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 276 (I276F)

Ref Sequence

ENSEMBL: ENSMUSP00000064718 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070892
AA Change: I276F

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: I276F

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: 99.4%
20x: 98.0%

Validation Efficiency

100% (44/44)

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
Abcf3	T	G	16: 20,368,484 (GRCm39)		probably null	Het
Acap1	C	A	11: 69,776,343 (GRCm39)	V219L	probably benign	Het
Arpp21	G	A	9: 111,955,550 (GRCm39)	P530S	probably damaging	Het
Atp6v1b1	T	C	6: 83,731,792 (GRCm39)	V224A	probably damaging	Het
Brd3	T	C	2: 27,344,371 (GRCm39)	D453G	probably damaging	Het
Btbd10	A	T	7: 112,951,150 (GRCm39)		probably null	Het
Ccdc148	T	C	2: 58,713,657 (GRCm39)	H498R	probably damaging	Het
Cga	A	T	4: 34,905,171 (GRCm39)	Y65F	possibly damaging	Het
Chd7	A	T	4: 8,856,797 (GRCm39)	H136L	probably damaging	Het
Chit1	T	C	1: 134,071,022 (GRCm39)	Y34H	probably damaging	Het
Cimap2	C	G	4: 106,467,596 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnhd1	T	G	7: 105,362,895 (GRCm39)	V3819G	probably damaging	Het
Dusp1	T	C	17: 26,726,577 (GRCm39)	S162G	probably benign	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Gga2	C	A	7: 121,598,111 (GRCm39)	A328S	probably benign	Het
Gpr183	A	G	14: 122,191,897 (GRCm39)	I208T	possibly damaging	Het
Haspin	T	C	11: 73,026,971 (GRCm39)	D706G	possibly damaging	Het
Hdac5	T	C	11: 102,095,786 (GRCm39)	I338V	probably benign	Het
Ik	C	T	18: 36,886,613 (GRCm39)	R362C	probably damaging	Het
Kdm4c	T	G	4: 74,275,587 (GRCm39)	C754W	probably damaging	Het
Limk1	T	A	5: 134,699,332 (GRCm39)	I142F	possibly damaging	Het
Mccc2	T	C	13: 100,104,234 (GRCm39)	E305G	probably benign	Het
Mdm1	A	G	10: 118,003,962 (GRCm39)	D639G	probably damaging	Het
Mefv	T	G	16: 3,528,744 (GRCm39)	T566P	probably damaging	Het
Mep1b	G	A	18: 21,221,727 (GRCm39)	V226I	probably benign	Het
Mgmt	T	C	7: 136,553,064 (GRCm39)	M19T	probably benign	Het
Mrgpra6	A	T	7: 46,835,693 (GRCm39)	S243T	probably benign	Het
Myh7	C	T	14: 55,229,197 (GRCm39)	R169Q	probably damaging	Het
Myo1b	T	C	1: 51,801,668 (GRCm39)	I917V	probably damaging	Het
Or4a80	A	T	2: 89,582,971 (GRCm39)	M67K	possibly damaging	Het
Phlpp1	T	C	1: 106,100,209 (GRCm39)	L159P	probably benign	Het
Plekhh3	T	C	11: 101,056,482 (GRCm39)	E371G	probably damaging	Het
Rps6ka2	C	A	17: 7,495,377 (GRCm39)	D21E	probably benign	Het
Slc47a1	T	A	11: 61,235,280 (GRCm39)	M518L	probably benign	Het
Slitrk6	T	C	14: 110,987,974 (GRCm39)	T578A	probably benign	Het
Syne2	A	T	12: 75,974,205 (GRCm39)	K1133N	possibly damaging	Het
Taco1	T	C	11: 105,963,942 (GRCm39)	S234P	probably benign	Het
Trpv4	G	A	5: 114,771,263 (GRCm39)	S422F	probably damaging	Het
Tvp23b	T	A	11: 62,775,952 (GRCm39)	D97E	possibly damaging	Het
Vmn1r37	A	T	6: 66,708,523 (GRCm39)	I13L	probably benign	Het
Vrk2	T	A	11: 26,485,597 (GRCm39)	K130N	probably damaging	Het
Wdfy4	C	T	14: 32,681,923 (GRCm39)	R3016Q	probably damaging	Het
Zfp383	T	C	7: 29,614,380 (GRCm39)	S212P	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
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

Predicted Primers

PCR Primer
(F):5'- ACCCATCAAGAGGTTCTAGCTG -3'
(R):5'- TAACCACCTTCAGGATGCCTTC -3'

Sequencing Primer
(F):5'- CCATCAAGAGGTTCTAGCTGGTAAAC -3'
(R):5'- ACCTTCAGGATGCCTTCATTGG -3'

Posted On

2018-11-28