Mutagenetix > Incidental Mutation

Incidental Mutation 'R5575:Dsc2'

437196

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2a, Dsc2b

MMRRC Submission

043130-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20163690-20192611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20168447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 671 (C671S)

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: C671S

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

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: C671S

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: C671S

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

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: C671S

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

unknown
Transcript: ENSMUST00000155407
AA Change: C70S

SMART Domains

Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331
AA Change: C70S

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

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

97% (57/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,916,195 (GRCm39)		probably null	Het
Adrm1	T	G	2: 179,817,509 (GRCm39)	D325E	probably benign	Het
Anapc4	T	A	5: 53,013,213 (GRCm39)	V433E	probably damaging	Het
Aplf	A	C	6: 87,623,129 (GRCm39)	C338G	probably benign	Het
Atad5	A	G	11: 79,991,149 (GRCm39)	T681A	probably benign	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Catsperg2	T	C	7: 29,405,015 (GRCm39)	K81R	possibly damaging	Het
Cep170b	T	A	12: 112,702,066 (GRCm39)	H286Q	probably damaging	Het
Cfap61	G	A	2: 145,859,313 (GRCm39)	V434I	probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col9a3	A	T	2: 180,240,639 (GRCm39)		probably benign	Het
Eif5	T	C	12: 111,508,740 (GRCm39)	V245A	probably damaging	Het
Epha5	G	A	5: 84,564,361 (GRCm39)	R2W	probably damaging	Het
Gabrb2	G	A	11: 42,420,365 (GRCm39)		probably benign	Het
Gm3453	A	G	14: 5,978,205 (GRCm38)	V66A	possibly damaging	Het
Gna15	T	C	10: 81,359,707 (GRCm39)	I28V	probably damaging	Het
Hk3	A	T	13: 55,162,583 (GRCm39)	D88E	probably damaging	Het
Hmbox1	T	C	14: 65,060,613 (GRCm39)	T375A	probably benign	Het
Ibsp	A	T	5: 104,457,925 (GRCm39)	E154V	possibly damaging	Het
Il7r	A	G	15: 9,508,273 (GRCm39)	S350P	probably benign	Het
Isx	T	C	8: 75,619,429 (GRCm39)	L207P	probably benign	Het
Krt35	T	C	11: 99,985,450 (GRCm39)	E197G	probably damaging	Het
Krt78	G	A	15: 101,855,787 (GRCm39)	Q675*	probably null	Het
Marchf1	T	A	8: 66,920,962 (GRCm39)	V217E	probably damaging	Het
Mertk	T	C	2: 128,578,485 (GRCm39)	I157T	probably damaging	Het
Mmab	A	T	5: 114,574,832 (GRCm39)	L147Q	probably damaging	Het
Ndst4	T	A	3: 125,231,479 (GRCm39)	V16D	probably benign	Het
Niban1	A	T	1: 151,593,991 (GRCm39)	H892L	probably benign	Het
Ogdhl	T	C	14: 32,047,804 (GRCm39)	L18P	possibly damaging	Het
Pikfyve	A	C	1: 65,312,889 (GRCm39)	H2089P	probably damaging	Het
Plxna1	A	T	6: 89,301,523 (GRCm39)	L1501Q	possibly damaging	Het
Ppp2r5c	T	C	12: 110,519,266 (GRCm39)	F246S	probably damaging	Het
Ptbp2	A	T	3: 119,514,432 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,514,438 (GRCm39)	P463L	possibly damaging	Het
Rad51	A	G	2: 118,964,914 (GRCm39)	D274G	probably benign	Het
Ranbp2	T	C	10: 58,328,405 (GRCm39)	V2807A	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rp1l1	C	T	14: 64,268,433 (GRCm39)	H1340Y	probably benign	Het
Ryr1	T	A	7: 28,778,118 (GRCm39)	H2133L	possibly damaging	Het
Scgb1c1	G	A	7: 140,426,024 (GRCm39)	G40E	probably damaging	Het
Shank2	T	C	7: 143,963,871 (GRCm39)	I703T	probably damaging	Het
Spag17	G	A	3: 99,961,138 (GRCm39)	A975T	possibly damaging	Het
Supt6	T	C	11: 78,119,787 (GRCm39)	D400G	probably damaging	Het
Synrg	T	C	11: 83,900,378 (GRCm39)		probably null	Het
Thada	A	C	17: 84,723,827 (GRCm39)		probably null	Het
Themis3	A	G	17: 66,862,321 (GRCm39)	S546P	possibly damaging	Het
Tinf2	T	C	14: 55,917,631 (GRCm39)	D286G	probably benign	Het
Tmem67	A	T	4: 12,047,886 (GRCm39)	V815D	possibly damaging	Het
Trpm1	T	C	7: 63,870,018 (GRCm39)	L441P	possibly damaging	Het
Vapa	A	G	17: 65,920,247 (GRCm39)	V16A	probably benign	Het
Vmn2r38	A	T	7: 9,078,635 (GRCm39)	Y582*	probably null	Het
Vps13b	A	T	15: 35,930,065 (GRCm39)	K3934I	probably damaging	Het
Wrn	G	A	8: 33,826,158 (GRCm39)	T168I	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
R2927:Dsc2	UTSW	18	20,178,558 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGTATCACTTTTCAGACCACTACC -3'
(R):5'- AACTGGCCGGGTTTGCTTAAG -3'

Sequencing Primer
(F):5'- TCACTTTTCAGACCACTACCTATAAG -3'
(R):5'- GAAGCTTTTGTATGTAACACCTGC -3'

Posted On

2016-10-26