Mutagenetix > Incidental Mutation

Incidental Mutation 'R3961:Dsc2'

312100

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2a, Dsc2b

MMRRC Submission

040836-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3961 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20163690-20192611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20184284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 35 (V35I)

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: V35I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: V35I

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: V35I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: V35I

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

possibly damaging
Transcript: ENSMUST00000128464
AA Change: V35I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331
AA Change: V35I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Bicral	T	C	17: 47,135,751 (GRCm39)	I486M	probably damaging	Het
Btbd1	C	A	7: 81,468,083 (GRCm39)	E146*	probably null	Het
Cdcp1	T	C	9: 123,011,446 (GRCm39)	T344A	possibly damaging	Het
Cenpm	A	T	15: 82,118,574 (GRCm39)	L180Q	possibly damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dazl	A	G	17: 50,595,161 (GRCm39)	V91A	probably damaging	Het
Fras1	T	C	5: 96,825,244 (GRCm39)		probably null	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Mme	T	A	3: 63,252,613 (GRCm39)	M419K	probably damaging	Het
Ncan	G	A	8: 70,562,950 (GRCm39)	T436M	probably benign	Het
Nphp3	G	T	9: 103,880,241 (GRCm39)	E88*	probably null	Het
Or5ak23	T	C	2: 85,245,216 (GRCm39)	I2M	possibly damaging	Het
Pdcl	T	C	2: 37,242,199 (GRCm39)	M184V	probably benign	Het
Polr3b	T	C	10: 84,520,166 (GRCm39)	M694T	possibly damaging	Het
Pramel12	T	A	4: 143,145,888 (GRCm39)	N452K	probably benign	Het
Prkdc	T	G	16: 15,647,475 (GRCm39)		probably null	Het
Prss35	A	G	9: 86,637,802 (GRCm39)	M191V	probably benign	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Taf7	A	G	18: 37,776,174 (GRCm39)	V131A	probably benign	Het
Tesk1	A	G	4: 43,445,133 (GRCm39)		probably null	Het
Tmem131	C	T	1: 36,858,031 (GRCm39)	D741N	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tpte	A	G	8: 22,849,431 (GRCm39)	S553G	probably damaging	Het
Trpv3	A	T	11: 73,178,246 (GRCm39)	K438*	probably null	Het
Vmn2r107	G	A	17: 20,595,717 (GRCm39)	G757R	probably damaging	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
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'- GATCACACTGTTCGCTTTTAGC -3'
(R):5'- AAGAATGTGGTTCCCTGAGTAGG -3'

Sequencing Primer
(F):5'- GCTATTAATCACAAGATCCTCCTGG -3'
(R):5'- GGAGTGCTTGGCCTTTTCTCATC -3'

Posted On

2015-04-29