Mutagenetix > Incidental Mutation

Incidental Mutation 'R4176:Dsg2'

319533

Institutional Source

Beutler Lab

Gene Symbol

Dsg2

Ensembl Gene

ENSMUSG00000044393

Gene Name

desmoglein 2

Synonyms

D18Ertd293e

MMRRC Submission

041014-MU

Accession Numbers

Essential gene?

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

Stock #

R4176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20691131-20737578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20713720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 230 (F230L)

Ref Sequence

ENSEMBL: ENSMUSP00000113153 (fasta)

Gene Model

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

AlphaFold

O55111

Predicted Effect

probably benign
Transcript: ENSMUST00000059787
AA Change: F230L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: F230L

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 benign
Transcript: ENSMUST00000120102
AA Change: F230L

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: F230L

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 benign
Transcript: ENSMUST00000121837
AA Change: F230L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: F230L

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,000 (GRCm39)	E1274G	possibly damaging	Het
Abi3bp	A	G	16: 56,472,563 (GRCm39)	E424G	probably damaging	Het
Ankrd10	A	G	8: 11,662,644 (GRCm39)	I363T	probably benign	Het
Ankrd12	A	T	17: 66,334,361 (GRCm39)	N204K	probably damaging	Het
Brca2	C	A	5: 150,463,098 (GRCm39)	S954*	probably null	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Dagla	G	T	19: 10,240,461 (GRCm39)	D256E	probably damaging	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Emilin2	A	T	17: 71,581,258 (GRCm39)	D489E	probably benign	Het
Entrep3	T	C	3: 89,091,754 (GRCm39)	V87A	probably damaging	Het
Ermp1	A	G	19: 29,623,365 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,794,321 (GRCm39)	Y614H	probably benign	Het
Fnbp1	T	C	2: 30,926,131 (GRCm39)		probably null	Het
Gabrb3	T	C	7: 57,241,061 (GRCm39)	F13S	probably benign	Het
Hydin	G	A	8: 111,320,452 (GRCm39)	A4499T	probably benign	Het
Islr2	A	T	9: 58,107,183 (GRCm39)	C26S	probably damaging	Het
Jup	T	A	11: 100,263,287 (GRCm39)	D696V	probably benign	Het
Kcnq5	A	C	1: 21,605,392 (GRCm39)	V171G	probably damaging	Het
Kntc1	T	G	5: 123,914,680 (GRCm39)	S667A	possibly damaging	Het
Loxhd1	A	G	18: 77,418,755 (GRCm39)	T293A	possibly damaging	Het
Lrp1b	C	A	2: 41,298,405 (GRCm39)	C138F	probably damaging	Het
Lrrc37	T	A	11: 103,427,426 (GRCm39)	H1388L	unknown	Het
Mctp2	A	G	7: 71,909,085 (GRCm39)	I76T	probably benign	Het
Or2z8	A	G	8: 72,812,028 (GRCm39)	Y168C	probably damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Pbx1	A	G	1: 168,018,841 (GRCm39)		probably null	Het
Pelp1	A	T	11: 70,287,693 (GRCm39)	W410R	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pkd1	T	C	17: 24,806,971 (GRCm39)	L3482P	probably benign	Het
Plekhn1	C	T	4: 156,306,258 (GRCm39)	G604E	probably benign	Het
Ptpn22	A	G	3: 103,793,561 (GRCm39)	T571A	probably benign	Het
Qrsl1	A	T	10: 43,760,828 (GRCm39)	S252T	probably damaging	Het
Rab3gap2	T	A	1: 184,978,863 (GRCm39)	M280K	probably damaging	Het
Serpinh1	T	C	7: 98,996,206 (GRCm39)	M293V	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a8	T	A	17: 28,866,973 (GRCm39)	E585D	probably benign	Het
Slc34a2	T	G	5: 53,224,910 (GRCm39)	C350W	probably damaging	Het
Slit2	T	A	5: 48,394,586 (GRCm39)		probably null	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Trpm7	T	C	2: 126,671,083 (GRCm39)	K633R	possibly damaging	Het
Usp38	A	C	8: 81,719,928 (GRCm39)	S434A	probably benign	Het
Zbtb16	A	G	9: 48,571,101 (GRCm39)	F555S	probably damaging	Het
Zfp141	A	T	7: 42,125,705 (GRCm39)	S256T	probably benign	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
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
R7149:Dsg2	UTSW	18	20,712,511 (GRCm39)	missense	probably damaging	0.98
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'- ACCTTCGTTCCTAATGGCAG -3'
(R):5'- AGCATACCTCAATTTGGACTGC -3'

Sequencing Primer
(F):5'- CGTTCCTAATGGCAGATACACTTGTG -3'
(R):5'- GGACTGCTCATATTCCAAGAGCTG -3'

Posted On

2015-06-10