Mutagenetix > Incidental Mutations

Incidental Mutation 'R5781:Dsc2'

447756

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

043378-MU

Accession Numbers

Genbank: NM_013505; MGI: 103221

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20032510 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 846 (I846T)

Ref Sequence

ENSEMBL: ENSMUSP00000042905 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039247
AA Change: I846T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: I846T

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 benign
Transcript: ENSMUST00000075214

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,101,987	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,494,154	V283A	probably damaging	Het
Adamts19	G	T	18: 58,837,968	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,251,015	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,680,035	V773G	possibly damaging	Het
Arhgap10	G	T	8: 77,450,707	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,439,439		probably null	Het
Asb15	A	T	6: 24,564,378	H277L	probably benign	Het
Ascc3	T	A	10: 50,637,978	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,086,165	V329G	probably benign	Het
Col14a1	A	G	15: 55,423,512	T910A	unknown	Het
Dhdds	G	A	4: 133,996,830	L58F	probably damaging	Het
Evc	A	T	5: 37,326,570	S129T	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fyco1	A	G	9: 123,794,833	V1377A	probably damaging	Het
Haus6	C	T	4: 86,601,263	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,417,933	D23A	probably damaging	Het
Hpdl	C	T	4: 116,820,578	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,822,086	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,577,667	P59S	probably damaging	Het
Itpr1	G	A	6: 108,510,738	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,847,842	Y114*	probably null	Het
Mc2r	A	T	18: 68,407,395	Y276N	possibly damaging	Het
Mc2r	A	T	18: 68,407,397	I275K	probably damaging	Het
Mlycd	A	G	8: 119,410,280	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,820,919	S86R	probably damaging	Het
Msx2	C	A	13: 53,472,608	A35S	probably benign	Het
Olfr770	A	T	10: 129,133,147	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,305,023	S390I	probably damaging	Het
Plcl1	C	T	1: 55,695,989	A163V	possibly damaging	Het
Pnn	T	C	12: 59,071,819	V396A	probably damaging	Het
Rbmxl1	G	A	8: 78,505,641		probably benign	Het
Recql	G	T	6: 142,365,618		probably null	Het
Rev3l	T	A	10: 39,823,093	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,273,084	T754M	probably benign	Het
Sctr	A	G	1: 120,031,620	T98A	probably damaging	Het
Sdk1	T	A	5: 141,936,048	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,807,938	I264K	possibly damaging	Het
Spag6	A	G	2: 18,731,993	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,882,683	T297P	probably benign	Het
Tgfb1	A	G	7: 25,696,960	D226G	probably benign	Het
Ubr3	G	T	2: 70,016,244		probably null	Het
Ubr4	T	C	4: 139,468,096	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,541	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,524,938	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,035	A2286S	probably damaging	Het
Zcchc14	A	T	8: 121,604,593		probably benign	Het
Zfr2	T	A	10: 81,243,713	V362E	probably benign	Het

Other mutations in Dsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Dsc2	APN	18	20041797	missense	probably benign	0.01
IGL00826:Dsc2	APN	18	20035315	missense	probably damaging	1.00
IGL00852:Dsc2	APN	18	20034683	missense	probably benign	0.01
IGL01082:Dsc2	APN	18	20043792	missense	probably damaging	1.00
IGL01328:Dsc2	APN	18	20048286	missense	probably damaging	0.98
IGL01338:Dsc2	APN	18	20047157	missense	probably benign	0.19
IGL01727:Dsc2	APN	18	20038200	missense	probably benign	0.01
IGL01766:Dsc2	APN	18	20046342	missense	possibly damaging	0.56
IGL02228:Dsc2	APN	18	20043733	missense	probably damaging	0.99
IGL02560:Dsc2	APN	18	20045539	missense	probably damaging	1.00
IGL02794:Dsc2	APN	18	20041731	missense	probably damaging	1.00
3-1:Dsc2	UTSW	18	20047079	missense	possibly damaging	0.60
PIT4305001:Dsc2	UTSW	18	20046243	missense	probably damaging	0.96
PIT4431001:Dsc2	UTSW	18	20046277	nonsense	probably null
R0288:Dsc2	UTSW	18	20033120	missense	probably damaging	1.00
R0542:Dsc2	UTSW	18	20051226	missense	probably damaging	0.99
R0562:Dsc2	UTSW	18	20041537	missense	probably damaging	0.99
R0697:Dsc2	UTSW	18	20041452	missense	probably damaging	0.99
R0940:Dsc2	UTSW	18	20050059	missense	probably damaging	0.97
R1081:Dsc2	UTSW	18	20033295	missense	probably damaging	0.96
R1140:Dsc2	UTSW	18	20032212	missense	probably damaging	1.00
R1515:Dsc2	UTSW	18	20034701	missense	probably damaging	0.99
R1515:Dsc2	UTSW	18	20045565	missense	probably benign	0.40
R1558:Dsc2	UTSW	18	20050151	missense	probably damaging	0.99
R1654:Dsc2	UTSW	18	20046246	missense	probably benign	0.01
R2061:Dsc2	UTSW	18	20032399	missense	possibly damaging	0.79
R2089:Dsc2	UTSW	18	20033294	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20033294	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20033294	missense	possibly damaging	0.65
R2172:Dsc2	UTSW	18	20045502	missense	probably damaging	1.00
R2247:Dsc2	UTSW	18	20035312	missense	probably damaging	1.00
R2472:Dsc2	UTSW	18	20045469	missense	probably benign	0.00
R2927:Dsc2	UTSW	18	20045501	missense	probably damaging	1.00
R3611:Dsc2	UTSW	18	20032351	missense	probably damaging	0.99
R3961:Dsc2	UTSW	18	20051227	missense	probably damaging	0.98
R3963:Dsc2	UTSW	18	20051227	missense	probably damaging	0.98
R4353:Dsc2	UTSW	18	20050068	missense	probably damaging	1.00
R4362:Dsc2	UTSW	18	20050157	missense	probably damaging	1.00
R4612:Dsc2	UTSW	18	20041819	missense	probably damaging	1.00
R4613:Dsc2	UTSW	18	20041819	missense	probably damaging	1.00
R4752:Dsc2	UTSW	18	20038222	missense	probably damaging	1.00
R4946:Dsc2	UTSW	18	20050157	missense	probably damaging	1.00
R5056:Dsc2	UTSW	18	20050142	missense	probably damaging	1.00
R5267:Dsc2	UTSW	18	20034583	critical splice donor site	probably null
R5445:Dsc2	UTSW	18	20035303	missense	possibly damaging	0.76
R5507:Dsc2	UTSW	18	20046279	missense	probably damaging	0.96
R5575:Dsc2	UTSW	18	20035390	missense	probably damaging	1.00
R6102:Dsc2	UTSW	18	20047108	missense	probably benign	0.01
R6129:Dsc2	UTSW	18	20045430	missense	possibly damaging	0.95
R6362:Dsc2	UTSW	18	20035463	nonsense	probably null
R6433:Dsc2	UTSW	18	20051175	critical splice donor site	probably null
R6513:Dsc2	UTSW	18	20046238	missense	probably benign
R6615:Dsc2	UTSW	18	20032519	missense	possibly damaging	0.88
R6619:Dsc2	UTSW	18	20032278	missense	probably benign	0.22
R6665:Dsc2	UTSW	18	20050148	missense	probably damaging	1.00
R6961:Dsc2	UTSW	18	20038222	missense	probably damaging	1.00
R7179:Dsc2	UTSW	18	20035275	critical splice donor site	probably null
R7275:Dsc2	UTSW	18	20051179	nonsense	probably null
R7352:Dsc2	UTSW	18	20035335	missense	probably benign	0.39
R7386:Dsc2	UTSW	18	20041926	missense	possibly damaging	0.84
R7496:Dsc2	UTSW	18	20035394	nonsense	probably null
R7510:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R7580:Dsc2	UTSW	18	20050073	missense	probably damaging	1.00
R7718:Dsc2	UTSW	18	20041778	missense	probably damaging	0.98
R7733:Dsc2	UTSW	18	20048315	missense	probably benign	0.00
R7733:Dsc2	UTSW	18	20048316	missense	probably benign	0.16
R7818:Dsc2	UTSW	18	20050132	missense	probably damaging	1.00
R7852:Dsc2	UTSW	18	20046285	missense	possibly damaging	0.67
R7935:Dsc2	UTSW	18	20046285	missense	possibly damaging	0.67
Z1088:Dsc2	UTSW	18	20046304	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTTGGGCTCCAGATGGTCC -3'
(R):5'- GCCTGTTCCGAAAGAATGGAAC -3'

Sequencing Primer
(F):5'- AGCAGCCGAGCCTTTTC -3'
(R):5'- GGAACTCACATCAATTTGGGTTC -3'

Posted On

2016-12-15