Mutagenetix > Incidental Mutation

Incidental Mutation 'R1140:Dsc2'

102070

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

039213-MU

Accession Numbers

Genbank: NM_013505; MGI: 103221

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1140 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20032212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 901 (K901N)

Ref Sequence

ENSEMBL: ENSMUSP00000074702 (fasta)

Gene Model

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

AlphaFold

P55292

Predicted Effect

probably benign
Transcript: ENSMUST00000039247

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331

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: K901N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: K901N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155407

SMART Domains

Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331

Domain	Start	End	E-Value	Type
SCOP:d1l3wa5	2	71	2e-3	SMART
Blast:CA	2	76	2e-47	BLAST
transmembrane domain	96	118	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,150,135 (GRCm38)	S161T	probably damaging	Het
Ahnak	T	A	19: 9,004,245 (GRCm38)	D964E	probably damaging	Het
Aldh18a1	T	C	19: 40,574,285 (GRCm38)	I215V	probably benign	Het
Arfgef3	T	A	10: 18,597,348 (GRCm38)	I1656F	possibly damaging	Het
Aurka	T	C	2: 172,357,229 (GRCm38)	D285G	probably damaging	Het
Cep83	A	G	10: 94,737,890 (GRCm38)	K214E	probably damaging	Het
Dis3l2	A	T	1: 86,821,438 (GRCm38)	T209S	probably benign	Het
Dock7	A	G	4: 99,065,406 (GRCm38)	M363T	possibly damaging	Het
Fam234b	A	T	6: 135,225,758 (GRCm38)	H370L	probably benign	Het
Fanca	A	C	8: 123,313,129 (GRCm38)		probably null	Het
Fastkd5	C	T	2: 130,616,215 (GRCm38)	V152I	probably benign	Het
Fndc1	T	C	17: 7,775,426 (GRCm38)	R337G	unknown	Het
Fsip2	T	A	2: 82,975,034 (GRCm38)	Y566N	probably damaging	Het
Gsc	A	T	12: 104,473,102 (GRCm38)	M5K	probably damaging	Het
Muc5b	A	G	7: 141,858,996 (GRCm38)	E1893G	unknown	Het
Myh7	T	C	14: 54,972,882 (GRCm38)	T1789A	probably damaging	Het
Npr2	A	G	4: 43,648,353 (GRCm38)	T884A	possibly damaging	Het
Olfr389	T	A	11: 73,776,854 (GRCm38)	M158L	probably benign	Het
Parg	T	C	14: 32,296,243 (GRCm38)	S432P	probably benign	Het
Ptdss1	T	C	13: 66,963,356 (GRCm38)	V162A	probably benign	Het
Samsn1	C	T	16: 75,888,742 (GRCm38)	E43K	possibly damaging	Het
Sis	C	T	3: 72,951,616 (GRCm38)	V361I	probably damaging	Het
Speg	A	T	1: 75,429,095 (GRCm38)	N2981I	probably damaging	Het
Stk32c	C	T	7: 139,125,179 (GRCm38)	R23Q	probably damaging	Het
Taok3	T	C	5: 117,228,053 (GRCm38)	S231P	possibly damaging	Het
Tbc1d2b	A	G	9: 90,226,376 (GRCm38)	V374A	possibly damaging	Het
Xxylt1	T	A	16: 31,007,848 (GRCm38)		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
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
R4362:Dsc2	UTSW	18	20,050,157 (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

Posted On

2014-01-15