Mutagenetix > Incidental Mutation

Incidental Mutation 'R7149:Dsg2'

554033

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R7149 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20712511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 172 (S172P)

Ref Sequence

ENSEMBL: ENSMUSP00000057096 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably damaging
Transcript: ENSMUST00000059787
AA Change: S172P

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

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: S172P

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: S172P

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

SMART Domains

Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: S172P

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: S172P

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

SMART Domains

Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: S172P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,375,451 (GRCm39)	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,737,650 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,993,520 (GRCm39)	L744*	probably null	Het
Capn9	A	G	8: 125,332,448 (GRCm39)	D429G	probably benign	Het
CK137956	A	T	4: 127,864,626 (GRCm39)	M1K	probably null	Het
Cnot6	G	A	11: 49,570,970 (GRCm39)	P341S	probably benign	Het
Cracdl	G	A	1: 37,651,352 (GRCm39)	Q1172*	probably null	Het
Dld	T	G	12: 31,385,589 (GRCm39)	I251L	probably benign	Het
Dlg5	T	C	14: 24,240,492 (GRCm39)	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,952,397 (GRCm39)	P696L	probably damaging	Het
Dph1	T	C	11: 75,070,001 (GRCm39)	K409E	probably benign	Het
Gm1979	T	C	5: 26,206,945 (GRCm39)	N136S	probably benign	Het
Gm2663	A	T	6: 40,974,891 (GRCm39)	L60Q	probably damaging	Het
Hdac10	A	G	15: 89,011,652 (GRCm39)	F144S	probably damaging	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itgb2l	T	C	16: 96,234,759 (GRCm39)	D244G	probably damaging	Het
Klk1b9	A	T	7: 43,628,841 (GRCm39)	Y115F	probably benign	Het
Llcfc1	C	A	6: 41,662,251 (GRCm39)	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,527,872 (GRCm39)	V4330M		Het
Map3k13	A	G	16: 21,744,187 (GRCm39)	E811G	probably benign	Het
Myl6b	A	G	10: 128,333,068 (GRCm39)		probably null	Het
Myo15a	G	A	11: 60,400,836 (GRCm39)	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,837,277 (GRCm39)	D29G	probably benign	Het
Nepro	T	A	16: 44,550,078 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,072,482 (GRCm39)	R454*	probably null	Het
Nlrp4a	T	C	7: 26,149,863 (GRCm39)	V490A	probably benign	Het
Or1e1f	G	A	11: 73,856,257 (GRCm39)	M274I	probably benign	Het
Or2l13	T	C	16: 19,306,260 (GRCm39)	V224A	probably damaging	Het
Pde8b	T	G	13: 95,223,349 (GRCm39)	M197L	probably benign	Het
Phldb2	T	A	16: 45,571,895 (GRCm39)	K1166*	probably null	Het
Plekhm1	A	G	11: 103,285,742 (GRCm39)	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,146,599 (GRCm39)	I199T	probably damaging	Het
Ptch1	G	T	13: 63,659,550 (GRCm39)	H1368N	probably benign	Het
Ptprj	T	A	2: 90,274,790 (GRCm39)	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,610,712 (GRCm39)	S748P	probably damaging	Het
Rigi	T	C	4: 40,222,079 (GRCm39)	D445G	possibly damaging	Het
Rnmt	T	C	18: 68,452,222 (GRCm39)	S420P	probably damaging	Het
Sgms2	A	G	3: 131,129,908 (GRCm39)	F160S	possibly damaging	Het
Sim1	G	T	10: 50,785,636 (GRCm39)	R235L	probably damaging	Het
Slco1a7	A	G	6: 141,690,178 (GRCm39)	S192P	probably damaging	Het
Smarcad1	T	A	6: 65,029,716 (GRCm39)	D101E	probably benign	Het
Smarcc2	G	A	10: 128,318,598 (GRCm39)	V627M	probably damaging	Het
Supt20	G	A	3: 54,635,832 (GRCm39)	R241H	unknown	Het
Tagln2	T	A	1: 172,333,386 (GRCm39)	I80N	probably damaging	Het
Tmod2	G	A	9: 75,489,167 (GRCm39)	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,654 (GRCm39)	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,817,989 (GRCm39)	M714K	possibly damaging	Het
Vps8	C	A	16: 21,278,526 (GRCm39)	D261E	probably damaging	Het
Yeats2	C	A	16: 19,972,939 (GRCm39)	A31E	probably damaging	Het
Zfp451	C	T	1: 33,816,405 (GRCm39)	R515Q	probably damaging	Het
Zfp553	A	G	7: 126,835,605 (GRCm39)	S387G	possibly 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
R1433:Dsg2	UTSW	18	20,715,780 (GRCm39)	missense	probably damaging	0.98
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
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'- AGTTCTTCCCTGGTGAAATCATG -3'
(R):5'- ACTTCTGGTGAGTAATATCCAGC -3'

Sequencing Primer
(F):5'- CTTCCCTGGTGAAATCATGATTTG -3'
(R):5'- TCCACAGATCAGGTGATGGCTTAC -3'

Posted On

2019-05-15