Mutagenetix > Incidental Mutation

Incidental Mutation 'R2927:Dsc2'

255807

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2a, Dsc2b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20163690-20192611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20178558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 282 (Y282C)

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: Y282C

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

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: Y282C

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: Y282C

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

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: Y282C

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 benign
Transcript: ENSMUST00000128464

SMART Domains

Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Dsg1b	C	A	18: 20,538,308 (GRCm39)	P638Q	probably benign	Het
Eea1	C	T	10: 95,849,220 (GRCm39)	S486L	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift22	A	G	5: 136,941,799 (GRCm39)	D147G	probably damaging	Het
Igsf10	T	A	3: 59,236,848 (GRCm39)	Q1111L	probably benign	Het
Ikzf1	T	C	11: 11,719,324 (GRCm39)	Y344H	probably damaging	Het
Kif1c	T	A	11: 70,617,140 (GRCm39)	C813S	probably benign	Het
Krt16	A	G	11: 100,139,625 (GRCm39)	L31P	unknown	Het
Lrrc49	G	A	9: 60,501,029 (GRCm39)	R633*	probably null	Het
Mllt6	T	A	11: 97,571,602 (GRCm39)	F1080I	probably damaging	Het
Or52ae7	A	G	7: 103,120,089 (GRCm39)	Y281C	probably damaging	Het
Plxnc1	T	G	10: 94,629,154 (GRCm39)		probably null	Het
Ppp4r2	T	C	6: 100,838,426 (GRCm39)	Y115H	probably damaging	Het
Pramel1	T	A	4: 143,125,388 (GRCm39)	D437E	probably benign	Het
Pstpip2	C	A	18: 77,949,589 (GRCm39)	Q133K	probably damaging	Het
Ptgs2	A	T	1: 149,977,011 (GRCm39)	T41S	possibly damaging	Het
Slc36a1	G	A	11: 55,123,201 (GRCm39)	A389T	probably damaging	Het
Vav2	A	G	2: 27,316,403 (GRCm39)	V30A	probably damaging	Het
Vmn1r119	C	T	7: 20,746,056 (GRCm39)	V109I	probably benign	Het

Other mutations in Dsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Dsc2	APN	18	20,174,854 (GRCm39)	missense	probably benign	0.01
IGL00826:Dsc2	APN	18	20,168,372 (GRCm39)	missense	probably damaging	1.00
IGL00852:Dsc2	APN	18	20,167,740 (GRCm39)	missense	probably benign	0.01
IGL01082:Dsc2	APN	18	20,176,849 (GRCm39)	missense	probably damaging	1.00
IGL01328:Dsc2	APN	18	20,181,343 (GRCm39)	missense	probably damaging	0.98
IGL01338:Dsc2	APN	18	20,180,214 (GRCm39)	missense	probably benign	0.19
IGL01727:Dsc2	APN	18	20,171,257 (GRCm39)	missense	probably benign	0.01
IGL01766:Dsc2	APN	18	20,179,399 (GRCm39)	missense	possibly damaging	0.56
IGL02228:Dsc2	APN	18	20,176,790 (GRCm39)	missense	probably damaging	0.99
IGL02560:Dsc2	APN	18	20,178,596 (GRCm39)	missense	probably damaging	1.00
IGL02794:Dsc2	APN	18	20,174,788 (GRCm39)	missense	probably damaging	1.00
3-1:Dsc2	UTSW	18	20,180,136 (GRCm39)	missense	possibly damaging	0.60
PIT4305001:Dsc2	UTSW	18	20,179,300 (GRCm39)	missense	probably damaging	0.96
PIT4431001:Dsc2	UTSW	18	20,179,334 (GRCm39)	nonsense	probably null
R0288:Dsc2	UTSW	18	20,166,177 (GRCm39)	missense	probably damaging	1.00
R0542:Dsc2	UTSW	18	20,184,283 (GRCm39)	missense	probably damaging	0.99
R0562:Dsc2	UTSW	18	20,174,594 (GRCm39)	missense	probably damaging	0.99
R0697:Dsc2	UTSW	18	20,174,509 (GRCm39)	missense	probably damaging	0.99
R0940:Dsc2	UTSW	18	20,183,116 (GRCm39)	missense	probably damaging	0.97
R1081:Dsc2	UTSW	18	20,166,352 (GRCm39)	missense	probably damaging	0.96
R1140:Dsc2	UTSW	18	20,165,269 (GRCm39)	missense	probably damaging	1.00
R1515:Dsc2	UTSW	18	20,178,622 (GRCm39)	missense	probably benign	0.40
R1515:Dsc2	UTSW	18	20,167,758 (GRCm39)	missense	probably damaging	0.99
R1558:Dsc2	UTSW	18	20,183,208 (GRCm39)	missense	probably damaging	0.99
R1654:Dsc2	UTSW	18	20,179,303 (GRCm39)	missense	probably benign	0.01
R2061:Dsc2	UTSW	18	20,165,456 (GRCm39)	missense	possibly damaging	0.79
R2089:Dsc2	UTSW	18	20,166,351 (GRCm39)	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20,166,351 (GRCm39)	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20,166,351 (GRCm39)	missense	possibly damaging	0.65
R2172:Dsc2	UTSW	18	20,178,559 (GRCm39)	missense	probably damaging	1.00
R2247:Dsc2	UTSW	18	20,168,369 (GRCm39)	missense	probably damaging	1.00
R2472:Dsc2	UTSW	18	20,178,526 (GRCm39)	missense	probably benign	0.00
R3611:Dsc2	UTSW	18	20,165,408 (GRCm39)	missense	probably damaging	0.99
R3961:Dsc2	UTSW	18	20,184,284 (GRCm39)	missense	probably damaging	0.98
R3963:Dsc2	UTSW	18	20,184,284 (GRCm39)	missense	probably damaging	0.98
R4353:Dsc2	UTSW	18	20,183,125 (GRCm39)	missense	probably damaging	1.00
R4362:Dsc2	UTSW	18	20,183,214 (GRCm39)	missense	probably damaging	1.00
R4612:Dsc2	UTSW	18	20,174,876 (GRCm39)	missense	probably damaging	1.00
R4613:Dsc2	UTSW	18	20,174,876 (GRCm39)	missense	probably damaging	1.00
R4752:Dsc2	UTSW	18	20,171,279 (GRCm39)	missense	probably damaging	1.00
R4946:Dsc2	UTSW	18	20,183,214 (GRCm39)	missense	probably damaging	1.00
R5056:Dsc2	UTSW	18	20,183,199 (GRCm39)	missense	probably damaging	1.00
R5267:Dsc2	UTSW	18	20,167,640 (GRCm39)	critical splice donor site	probably null
R5445:Dsc2	UTSW	18	20,168,360 (GRCm39)	missense	possibly damaging	0.76
R5507:Dsc2	UTSW	18	20,179,336 (GRCm39)	missense	probably damaging	0.96
R5575:Dsc2	UTSW	18	20,168,447 (GRCm39)	missense	probably damaging	1.00
R5781:Dsc2	UTSW	18	20,165,567 (GRCm39)	missense	probably benign	0.00
R6102:Dsc2	UTSW	18	20,180,165 (GRCm39)	missense	probably benign	0.01
R6129:Dsc2	UTSW	18	20,178,487 (GRCm39)	missense	possibly damaging	0.95
R6362:Dsc2	UTSW	18	20,168,520 (GRCm39)	nonsense	probably null
R6433:Dsc2	UTSW	18	20,184,232 (GRCm39)	critical splice donor site	probably null
R6513:Dsc2	UTSW	18	20,179,295 (GRCm39)	missense	probably benign
R6615:Dsc2	UTSW	18	20,165,576 (GRCm39)	missense	possibly damaging	0.88
R6619:Dsc2	UTSW	18	20,165,335 (GRCm39)	missense	probably benign	0.22
R6665:Dsc2	UTSW	18	20,183,205 (GRCm39)	missense	probably damaging	1.00
R6961:Dsc2	UTSW	18	20,171,279 (GRCm39)	missense	probably damaging	1.00
R7179:Dsc2	UTSW	18	20,168,332 (GRCm39)	critical splice donor site	probably null
R7275:Dsc2	UTSW	18	20,184,236 (GRCm39)	nonsense	probably null
R7352:Dsc2	UTSW	18	20,168,392 (GRCm39)	missense	probably benign	0.39
R7386:Dsc2	UTSW	18	20,174,983 (GRCm39)	missense	possibly damaging	0.84
R7496:Dsc2	UTSW	18	20,168,451 (GRCm39)	nonsense	probably null
R7510:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R7580:Dsc2	UTSW	18	20,183,130 (GRCm39)	missense	probably damaging	1.00
R7718:Dsc2	UTSW	18	20,174,835 (GRCm39)	missense	probably damaging	0.98
R7733:Dsc2	UTSW	18	20,181,373 (GRCm39)	missense	probably benign	0.16
R7733:Dsc2	UTSW	18	20,181,372 (GRCm39)	missense	probably benign	0.00
R7818:Dsc2	UTSW	18	20,183,189 (GRCm39)	missense	probably damaging	1.00
R7852:Dsc2	UTSW	18	20,179,342 (GRCm39)	missense	possibly damaging	0.67
R7998:Dsc2	UTSW	18	20,167,720 (GRCm39)	missense	possibly damaging	0.87
R8029:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8030:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8031:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8032:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8059:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8060:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8061:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8062:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8063:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8082:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8090:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8114:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8115:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8116:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8117:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8118:Dsc2	UTSW	18	20,165,331 (GRCm39)	missense	possibly damaging	0.78
R8328:Dsc2	UTSW	18	20,165,576 (GRCm39)	missense	possibly damaging	0.68
R8545:Dsc2	UTSW	18	20,167,722 (GRCm39)	nonsense	probably null
R9005:Dsc2	UTSW	18	20,171,151 (GRCm39)	missense	probably benign	0.00
R9017:Dsc2	UTSW	18	20,176,968 (GRCm39)	missense	probably damaging	1.00
R9111:Dsc2	UTSW	18	20,167,764 (GRCm39)	missense	probably benign	0.00
R9396:Dsc2	UTSW	18	20,174,773 (GRCm39)	nonsense	probably null
R9487:Dsc2	UTSW	18	20,180,276 (GRCm39)	missense	probably damaging	0.99
R9663:Dsc2	UTSW	18	20,171,205 (GRCm39)	missense	probably damaging	1.00
Z1088:Dsc2	UTSW	18	20,179,361 (GRCm39)	missense	probably damaging	0.98
Z1176:Dsc2	UTSW	18	20,168,356 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCCAGCTGAGACACTATG -3'
(R):5'- GTTAAAGTAAGCACAGGCATGC -3'

Sequencing Primer
(F):5'- GCTGAGACACTATGCTCTTAAAAGC -3'
(R):5'- TGTGATCCTGCTCTGTCAAAAG -3'

Posted On

2014-12-29