Mutagenetix > Incidental Mutation

Incidental Mutation 'R0940:Dsc2'

81467

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2a, Dsc2b

MMRRC Submission

039079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20163690-20192611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20183116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 101 (T101P)

Ref Sequence

ENSEMBL: ENSMUSP00000123010 (fasta)

Gene Model

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

AlphaFold

P55292

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039247
AA Change: T101P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: T101P

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

possibly damaging
Transcript: ENSMUST00000075214
AA Change: T101P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: T101P

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 damaging
Transcript: ENSMUST00000128464
AA Change: T101P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331
AA Change: T101P

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

Meta Mutation Damage Score

0.4356

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,119,367 (GRCm39)		noncoding transcript	Het
2610021A01Rik	T	G	7: 41,275,858 (GRCm39)	I520M	probably damaging	Het
Ackr4	A	G	9: 103,976,831 (GRCm39)	F39L	probably damaging	Het
Adgre5	C	T	8: 84,460,126 (GRCm39)	S92N	probably damaging	Het
Adrb2	T	C	18: 62,312,762 (GRCm39)	D21G	probably benign	Het
Akr1c6	G	A	13: 4,486,372 (GRCm39)	E60K	probably benign	Het
Bcl7c	T	A	7: 127,306,503 (GRCm39)	N96I	possibly damaging	Het
Brca1	A	T	11: 101,422,969 (GRCm39)	S106R	possibly damaging	Het
C6	A	T	15: 4,764,717 (GRCm39)	T138S	probably benign	Het
Cul3	T	C	1: 80,300,564 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 31,022,217 (GRCm39)	M3939K	probably damaging	Het
Dock4	T	A	12: 40,681,626 (GRCm39)		probably benign	Het
Dynlt1b	T	C	17: 6,697,649 (GRCm39)		probably benign	Het
E330013P04Rik	A	G	19: 60,150,354 (GRCm39)		noncoding transcript	Het
Fggy	A	G	4: 95,585,238 (GRCm39)	E39G	probably benign	Het
Fhip1a	A	G	3: 85,572,797 (GRCm39)	V952A	possibly damaging	Het
Fmo6	A	T	1: 162,753,795 (GRCm39)	C116S	probably benign	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gmps	A	G	3: 63,883,743 (GRCm39)		probably benign	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,868,976 (GRCm39)	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,105,654 (GRCm39)	Y202H	probably damaging	Het
Kank3	C	T	17: 34,036,450 (GRCm39)	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,305,658 (GRCm39)	D253G	probably benign	Het
Lrrk2	A	T	15: 91,613,284 (GRCm39)	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Mycbp2	A	T	14: 103,500,129 (GRCm39)		probably benign	Het
Myh4	A	T	11: 67,133,689 (GRCm39)	N243Y	probably damaging	Het
Myorg	A	G	4: 41,497,996 (GRCm39)	Y545H	probably damaging	Het
Nfatc1	C	T	18: 80,679,110 (GRCm39)	M759I	probably benign	Het
Nipal4	A	G	11: 46,041,139 (GRCm39)	I352T	possibly damaging	Het
Nomo1	A	G	7: 45,683,329 (GRCm39)	E25G	possibly damaging	Het
Or10j27	A	G	1: 172,958,020 (GRCm39)	S255P	probably benign	Het
Or13a19	T	C	7: 139,903,065 (GRCm39)	I151T	probably benign	Het
Or14j7	A	G	17: 38,234,591 (GRCm39)	I45V	probably damaging	Het
Or1e32	T	C	11: 73,705,050 (GRCm39)	N286S	probably damaging	Het
Or4c116	T	A	2: 88,942,419 (GRCm39)	I146L	probably benign	Het
Or5p66	T	C	7: 107,886,264 (GRCm39)	D23G	probably benign	Het
Pabpn1l	A	G	8: 123,349,183 (GRCm39)	V78A	probably benign	Het
Pde6b	T	A	5: 108,568,203 (GRCm39)	I327N	possibly damaging	Het
Phrf1	T	C	7: 140,834,768 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,575,818 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,482,863 (GRCm39)	V1519I	probably benign	Het
Ppp2cb	T	C	8: 34,105,689 (GRCm39)		probably null	Het
Prickle2	A	G	6: 92,387,984 (GRCm39)	Y473H	probably benign	Het
Prpf3	A	G	3: 95,751,535 (GRCm39)	W389R	probably damaging	Het
Psme4	G	A	11: 30,765,264 (GRCm39)	E544K	possibly damaging	Het
Relb	A	T	7: 19,345,767 (GRCm39)	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,307,389 (GRCm39)	N683S	probably benign	Het
Rtel1	T	C	2: 180,964,596 (GRCm39)	C102R	probably benign	Het
Sel1l3	C	T	5: 53,301,379 (GRCm39)		probably benign	Het
Slc8a2	A	G	7: 15,878,887 (GRCm39)	T458A	probably benign	Het
Smc3	T	A	19: 53,629,340 (GRCm39)	M931K	probably benign	Het
Sorbs2	T	C	8: 46,249,539 (GRCm39)	V795A	probably benign	Het
Tgm3	A	G	2: 129,854,326 (GRCm39)	S2G	probably benign	Het
Tpbpa	T	C	13: 61,087,867 (GRCm39)	T75A	probably damaging	Het
Trub1	A	G	19: 57,473,495 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,328,604 (GRCm39)		probably null	Het
Ugt2a3	A	G	5: 87,475,065 (GRCm39)	V393A	possibly damaging	Het
Vav3	T	A	3: 109,470,151 (GRCm39)	M532K	possibly damaging	Het
Zfp616	A	T	11: 73,975,850 (GRCm39)	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,091,432 (GRCm39)	F55S	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
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
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'- GCAGTGCATCCCCAAAATCAAAGTG -3'
(R):5'- AGTGAACCTGATGGACTGCCTTAAATC -3'

Sequencing Primer
(F):5'- CATGTGAAGCTTATCCCAAAGG -3'
(R):5'- CAGCAGACATAGTTCATCTGAGTG -3'

Posted On

2013-11-07