Mutagenetix > Incidental Mutation

Incidental Mutation 'R4362:Dsc2'

324971

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

041671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20050157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 68 (D68V)

Ref Sequence

ENSEMBL: ENSMUSP00000074702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]

AlphaFold

P55292

Predicted Effect

probably damaging
Transcript: ENSMUST00000039247
AA Change: D68V

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

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: D68V

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	2.82e-37	SMART
CA	156	241	4.66e-11	SMART
CA	265	353	1.87e-24	SMART
low complexity region	358	372	N/A	INTRINSIC
CA	376	470	1.27e-12	SMART
CA	493	575	4.14e-17	SMART
CA	594	676	1.49e-1	SMART
transmembrane domain	696	718	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075214
AA Change: D68V

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

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: D68V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Cadherin_pro	31	113	2.82e-37	SMART
CA	156	241	4.66e-11	SMART
CA	265	353	1.87e-24	SMART
low complexity region	358	372	N/A	INTRINSIC
CA	376	470	1.27e-12	SMART
CA	493	575	4.14e-17	SMART
CA	594	676	1.49e-1	SMART
transmembrane domain	696	718	N/A	INTRINSIC
Pfam:Cadherin_C	730	901	3.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128464
AA Change: D68V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331
AA Change: D68V

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	2.82e-37	SMART

Meta Mutation Damage Score

0.7250

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	C	T	7: 29,248,262 (GRCm38)		probably benign	Het
2410089E03Rik	T	A	15: 8,270,745 (GRCm38)	S3179T	unknown	Het
Abcc6	A	G	7: 45,998,832 (GRCm38)		probably benign	Het
Adamts13	G	A	2: 27,004,782 (GRCm38)	C1034Y	probably damaging	Het
Atp2b4	G	T	1: 133,739,931 (GRCm38)	P125Q	possibly damaging	Het
Atp8b1	C	T	18: 64,564,537 (GRCm38)	R412H	probably damaging	Het
Bicc1	ATGTG	ATG	10: 70,943,374 (GRCm38)		probably null	Het
Cap1	G	A	4: 122,862,987 (GRCm38)	P302S	probably benign	Het
Chodl	G	T	16: 78,944,658 (GRCm38)		probably null	Het
Cplx2	A	T	13: 54,378,817 (GRCm38)	T13S	probably benign	Het
Dennd5a	G	A	7: 109,896,343 (GRCm38)	R1194W	probably damaging	Het
Dus4l	A	C	12: 31,648,828 (GRCm38)	I59R	probably damaging	Het
Edc3	C	T	9: 57,713,546 (GRCm38)	P50L	probably damaging	Het
Ext1	G	A	15: 53,107,591 (GRCm38)		probably benign	Het
Fam105a	C	T	15: 27,664,343 (GRCm38)		probably null	Het
Fam219a	C	T	4: 41,518,844 (GRCm38)		probably benign	Het
Fbxl3	A	T	14: 103,092,313 (GRCm38)	D106E	probably damaging	Het
Garem1	T	C	18: 21,236,115 (GRCm38)	N50D	possibly damaging	Het
Gins1	G	A	2: 150,909,762 (GRCm38)	R15H	probably damaging	Het
Glrx2	A	G	1: 143,741,680 (GRCm38)	K44R	possibly damaging	Het
Icam1	A	G	9: 21,026,312 (GRCm38)	D215G	possibly damaging	Het
Nedd9	A	T	13: 41,317,953 (GRCm38)	I184N	probably damaging	Het
Olfr380	T	C	11: 73,453,565 (GRCm38)	M216V	probably benign	Het
Olfr714	T	C	7: 107,074,592 (GRCm38)	S255P	probably damaging	Het
Ppp1r32	T	C	19: 10,475,021 (GRCm38)	Y375C	probably damaging	Het
Rhot2	A	G	17: 25,842,091 (GRCm38)	C147R	probably damaging	Het
Setd4	T	C	16: 93,583,686 (GRCm38)		probably null	Het
Slc6a4	A	G	11: 77,017,078 (GRCm38)	N356S	probably damaging	Het
Tas2r136	C	A	6: 132,778,009 (GRCm38)	V52L	probably damaging	Het
Tmem168	A	C	6: 13,595,073 (GRCm38)	I381S	probably benign	Het
Tnfrsf11b	T	A	15: 54,256,159 (GRCm38)	T140S	possibly damaging	Het
Ttpa	G	T	4: 20,023,827 (GRCm38)	E130*	probably null	Het
Ubr5	A	G	15: 38,078,403 (GRCm38)	V8A	probably damaging	Het
Vmn2r18	C	T	5: 151,572,903 (GRCm38)	C450Y	probably damaging	Het
Vmn2r32	A	T	7: 7,479,858 (GRCm38)	L39*	probably null	Het

Other mutations in Dsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Dsc2	APN	18	20,041,797 (GRCm38)	missense	probably benign	0.01
IGL00826:Dsc2	APN	18	20,035,315 (GRCm38)	missense	probably damaging	1.00
IGL00852:Dsc2	APN	18	20,034,683 (GRCm38)	missense	probably benign	0.01
IGL01082:Dsc2	APN	18	20,043,792 (GRCm38)	missense	probably damaging	1.00
IGL01328:Dsc2	APN	18	20,048,286 (GRCm38)	missense	probably damaging	0.98
IGL01338:Dsc2	APN	18	20,047,157 (GRCm38)	missense	probably benign	0.19
IGL01727:Dsc2	APN	18	20,038,200 (GRCm38)	missense	probably benign	0.01
IGL01766:Dsc2	APN	18	20,046,342 (GRCm38)	missense	possibly damaging	0.56
IGL02228:Dsc2	APN	18	20,043,733 (GRCm38)	missense	probably damaging	0.99
IGL02560:Dsc2	APN	18	20,045,539 (GRCm38)	missense	probably damaging	1.00
IGL02794:Dsc2	APN	18	20,041,731 (GRCm38)	missense	probably damaging	1.00
3-1:Dsc2	UTSW	18	20,047,079 (GRCm38)	missense	possibly damaging	0.60
PIT4305001:Dsc2	UTSW	18	20,046,243 (GRCm38)	missense	probably damaging	0.96
PIT4431001:Dsc2	UTSW	18	20,046,277 (GRCm38)	nonsense	probably null
R0288:Dsc2	UTSW	18	20,033,120 (GRCm38)	missense	probably damaging	1.00
R0542:Dsc2	UTSW	18	20,051,226 (GRCm38)	missense	probably damaging	0.99
R0562:Dsc2	UTSW	18	20,041,537 (GRCm38)	missense	probably damaging	0.99
R0697:Dsc2	UTSW	18	20,041,452 (GRCm38)	missense	probably damaging	0.99
R0940:Dsc2	UTSW	18	20,050,059 (GRCm38)	missense	probably damaging	0.97
R1081:Dsc2	UTSW	18	20,033,295 (GRCm38)	missense	probably damaging	0.96
R1140:Dsc2	UTSW	18	20,032,212 (GRCm38)	missense	probably damaging	1.00
R1515:Dsc2	UTSW	18	20,045,565 (GRCm38)	missense	probably benign	0.40
R1515:Dsc2	UTSW	18	20,034,701 (GRCm38)	missense	probably damaging	0.99
R1558:Dsc2	UTSW	18	20,050,151 (GRCm38)	missense	probably damaging	0.99
R1654:Dsc2	UTSW	18	20,046,246 (GRCm38)	missense	probably benign	0.01
R2061:Dsc2	UTSW	18	20,032,399 (GRCm38)	missense	possibly damaging	0.79
R2089:Dsc2	UTSW	18	20,033,294 (GRCm38)	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20,033,294 (GRCm38)	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20,033,294 (GRCm38)	missense	possibly damaging	0.65
R2172:Dsc2	UTSW	18	20,045,502 (GRCm38)	missense	probably damaging	1.00
R2247:Dsc2	UTSW	18	20,035,312 (GRCm38)	missense	probably damaging	1.00
R2472:Dsc2	UTSW	18	20,045,469 (GRCm38)	missense	probably benign	0.00
R2927:Dsc2	UTSW	18	20,045,501 (GRCm38)	missense	probably damaging	1.00
R3611:Dsc2	UTSW	18	20,032,351 (GRCm38)	missense	probably damaging	0.99
R3961:Dsc2	UTSW	18	20,051,227 (GRCm38)	missense	probably damaging	0.98
R3963:Dsc2	UTSW	18	20,051,227 (GRCm38)	missense	probably damaging	0.98
R4353:Dsc2	UTSW	18	20,050,068 (GRCm38)	missense	probably damaging	1.00
R4612:Dsc2	UTSW	18	20,041,819 (GRCm38)	missense	probably damaging	1.00
R4613:Dsc2	UTSW	18	20,041,819 (GRCm38)	missense	probably damaging	1.00
R4752:Dsc2	UTSW	18	20,038,222 (GRCm38)	missense	probably damaging	1.00
R4946:Dsc2	UTSW	18	20,050,157 (GRCm38)	missense	probably damaging	1.00
R5056:Dsc2	UTSW	18	20,050,142 (GRCm38)	missense	probably damaging	1.00
R5267:Dsc2	UTSW	18	20,034,583 (GRCm38)	critical splice donor site	probably null
R5445:Dsc2	UTSW	18	20,035,303 (GRCm38)	missense	possibly damaging	0.76
R5507:Dsc2	UTSW	18	20,046,279 (GRCm38)	missense	probably damaging	0.96
R5575:Dsc2	UTSW	18	20,035,390 (GRCm38)	missense	probably damaging	1.00
R5781:Dsc2	UTSW	18	20,032,510 (GRCm38)	missense	probably benign	0.00
R6102:Dsc2	UTSW	18	20,047,108 (GRCm38)	missense	probably benign	0.01
R6129:Dsc2	UTSW	18	20,045,430 (GRCm38)	missense	possibly damaging	0.95
R6362:Dsc2	UTSW	18	20,035,463 (GRCm38)	nonsense	probably null
R6433:Dsc2	UTSW	18	20,051,175 (GRCm38)	critical splice donor site	probably null
R6513:Dsc2	UTSW	18	20,046,238 (GRCm38)	missense	probably benign
R6615:Dsc2	UTSW	18	20,032,519 (GRCm38)	missense	possibly damaging	0.88
R6619:Dsc2	UTSW	18	20,032,278 (GRCm38)	missense	probably benign	0.22
R6665:Dsc2	UTSW	18	20,050,148 (GRCm38)	missense	probably damaging	1.00
R6961:Dsc2	UTSW	18	20,038,222 (GRCm38)	missense	probably damaging	1.00
R7179:Dsc2	UTSW	18	20,035,275 (GRCm38)	critical splice donor site	probably null
R7275:Dsc2	UTSW	18	20,051,179 (GRCm38)	nonsense	probably null
R7352:Dsc2	UTSW	18	20,035,335 (GRCm38)	missense	probably benign	0.39
R7386:Dsc2	UTSW	18	20,041,926 (GRCm38)	missense	possibly damaging	0.84
R7496:Dsc2	UTSW	18	20,035,394 (GRCm38)	nonsense	probably null
R7510:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R7580:Dsc2	UTSW	18	20,050,073 (GRCm38)	missense	probably damaging	1.00
R7718:Dsc2	UTSW	18	20,041,778 (GRCm38)	missense	probably damaging	0.98
R7733:Dsc2	UTSW	18	20,048,316 (GRCm38)	missense	probably benign	0.16
R7733:Dsc2	UTSW	18	20,048,315 (GRCm38)	missense	probably benign	0.00
R7818:Dsc2	UTSW	18	20,050,132 (GRCm38)	missense	probably damaging	1.00
R7852:Dsc2	UTSW	18	20,046,285 (GRCm38)	missense	possibly damaging	0.67
R7998:Dsc2	UTSW	18	20,034,663 (GRCm38)	missense	possibly damaging	0.87
R8029:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8030:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8031:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8032:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8059:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8060:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8061:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8062:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8063:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8082:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8090:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8114:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8115:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8116:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8117:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8118:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8328:Dsc2	UTSW	18	20,032,519 (GRCm38)	missense	possibly damaging	0.68
R8545:Dsc2	UTSW	18	20,034,665 (GRCm38)	nonsense	probably null
R9005:Dsc2	UTSW	18	20,038,094 (GRCm38)	missense	probably benign	0.00
R9017:Dsc2	UTSW	18	20,043,911 (GRCm38)	missense	probably damaging	1.00
R9111:Dsc2	UTSW	18	20,034,707 (GRCm38)	missense	probably benign	0.00
R9396:Dsc2	UTSW	18	20,041,716 (GRCm38)	nonsense	probably null
R9487:Dsc2	UTSW	18	20,047,219 (GRCm38)	missense	probably damaging	0.99
R9663:Dsc2	UTSW	18	20,038,148 (GRCm38)	missense	probably damaging	1.00
Z1088:Dsc2	UTSW	18	20,046,304 (GRCm38)	missense	probably damaging	0.98
Z1176:Dsc2	UTSW	18	20,035,299 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCAGTGTCAGTTAGCCC -3'
(R):5'- CACATGCCTTTATTTCAGGACAC -3'

Sequencing Primer
(F):5'- GTCAGTGTCAGTTAGCCCTAAAG -3'
(R):5'- CATGCCTTTATTTCAGGACACATATC -3'

Posted On

2015-07-06