Mutagenetix > Incidental Mutation

Incidental Mutation 'R2127:Dsc3'

227676

Institutional Source

Beutler Lab

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

5430426I24Rik

MMRRC Submission

040130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20093987-20135408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20101411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 661 (A661T)

Ref Sequence

ENSEMBL: ENSMUSP00000153261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000225110]

AlphaFold

P55850

Predicted Effect

probably benign
Transcript: ENSMUST00000115848
AA Change: A661T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: A661T

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	9.08e-41	SMART
CA	156	241	4.99e-11	SMART
CA	265	353	7.79e-22	SMART
CA	376	471	2.66e-6	SMART
CA	494	576	4.58e-19	SMART
CA	595	677	3.02e-2	SMART
transmembrane domain	692	714	N/A	INTRINSIC
Pfam:Cadherin_C	778	895	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225110
AA Change: A661T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.1054

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (93/95)

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,752 (GRCm39)	S300T	possibly damaging	Het
A2ml1	A	C	6: 128,535,400 (GRCm39)	V770G	probably damaging	Het
Abca6	A	G	11: 110,110,475 (GRCm39)	I558T	probably benign	Het
Abhd17c	C	A	7: 83,759,870 (GRCm39)	G295W	probably damaging	Het
Actn3	G	A	19: 4,921,703 (GRCm39)	A159V	probably damaging	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Agbl1	G	T	7: 76,069,628 (GRCm39)	V373F	possibly damaging	Het
Aldh1a1	A	T	19: 20,620,279 (GRCm39)	E485D	probably benign	Het
Amdhd2	A	G	17: 24,377,282 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,206,622 (GRCm39)	D15G	probably damaging	Het
Atp2b2	A	G	6: 113,737,611 (GRCm39)	L921P	probably damaging	Het
Btbd16	A	G	7: 130,386,038 (GRCm39)	N88S	probably benign	Het
Capn10	T	A	1: 92,865,756 (GRCm39)	C77*	probably null	Het
Caskin1	T	C	17: 24,715,970 (GRCm39)		probably null	Het
Catsper4	T	C	4: 133,941,117 (GRCm39)	D254G	probably benign	Het
Catsperg1	T	C	7: 28,884,465 (GRCm39)	D958G	probably damaging	Het
Ccar2	T	G	14: 70,377,100 (GRCm39)	K787Q	probably benign	Het
Ccdc191	C	T	16: 43,728,998 (GRCm39)	T244I	probably benign	Het
Cd33	A	T	7: 43,179,699 (GRCm39)	L243Q	possibly damaging	Het
Cdc37	T	C	9: 21,061,143 (GRCm39)	Y4C	probably damaging	Het
Cenpe	T	G	3: 134,945,541 (GRCm39)	N1018K	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Csmd1	T	C	8: 15,967,392 (GRCm39)	D3157G	probably damaging	Het
Dhx57	C	T	17: 80,580,477 (GRCm39)	V492M	probably damaging	Het
Dnah2	A	T	11: 69,349,011 (GRCm39)	I2486N	probably benign	Het
Dnhd1	C	T	7: 105,342,928 (GRCm39)	T1424I	possibly damaging	Het
F930015N05Rik	A	G	11: 64,326,229 (GRCm39)		probably benign	Het
Fbxo34	C	A	14: 47,767,563 (GRCm39)	R308S	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm11595	A	T	11: 99,663,327 (GRCm39)	C118S	unknown	Het
Gm9742	A	T	13: 8,085,011 (GRCm39)		noncoding transcript	Het
Gmeb2	G	A	2: 180,900,842 (GRCm39)	A185V	probably benign	Het
Gpr15	A	G	16: 58,538,618 (GRCm39)	V157A	possibly damaging	Het
Gpr3	C	T	4: 132,937,932 (GRCm39)	A247T	probably damaging	Het
Grin2b	A	C	6: 135,755,698 (GRCm39)	S539A	probably benign	Het
Hmbs	T	C	9: 44,252,004 (GRCm39)	T92A	probably benign	Het
Inpp4a	A	G	1: 37,406,000 (GRCm39)	M173V	probably benign	Het
Irx4	T	A	13: 73,413,595 (GRCm39)	S22T	probably benign	Het
Jph3	C	T	8: 122,511,881 (GRCm39)	A623V	probably benign	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Ksr1	G	A	11: 78,924,139 (GRCm39)	S361L	probably damaging	Het
Lyst	T	G	13: 13,809,847 (GRCm39)	Y506D	probably damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,064,007 (GRCm39)	S2788P	possibly damaging	Het
Mfsd2b	T	A	12: 4,917,659 (GRCm39)	Y129F	probably benign	Het
Mindy4	T	C	6: 55,195,250 (GRCm39)	S155P	probably benign	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Nckipsd	A	G	9: 108,688,932 (GRCm39)	T156A	probably benign	Het
Ndst1	G	A	18: 60,824,280 (GRCm39)	T799I	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Nphp3	G	A	9: 103,885,442 (GRCm39)	V167M	probably damaging	Het
Nup107	C	A	10: 117,610,380 (GRCm39)	R354L	possibly damaging	Het
Olfml2a	T	C	2: 38,831,699 (GRCm39)	C93R	probably damaging	Het
Or12e10	A	G	2: 87,640,685 (GRCm39)	I174V	probably benign	Het
Or1e25	C	G	11: 73,493,631 (GRCm39)	S75C	possibly damaging	Het
Or5l14	A	T	2: 87,793,176 (GRCm39)	V20D	probably benign	Het
Pappa	T	A	4: 65,215,494 (GRCm39)	L1134M	probably damaging	Het
Plscr4	T	G	9: 92,370,683 (GRCm39)	F217V	possibly damaging	Het
Pnpla8	T	A	12: 44,354,840 (GRCm39)	Y667N	probably benign	Het
Polg	A	G	7: 79,114,676 (GRCm39)	L95P	probably damaging	Het
Psg20	T	G	7: 18,416,643 (GRCm39)	I158L	probably damaging	Het
Pwwp2a	A	G	11: 43,596,145 (GRCm39)	S437G	probably benign	Het
Rdx	A	G	9: 51,981,032 (GRCm39)	M305V	possibly damaging	Het
Rinl	A	G	7: 28,496,168 (GRCm39)	E383G	probably damaging	Het
Ror1	A	G	4: 100,299,290 (GRCm39)	M888V	probably benign	Het
Rps12	A	T	10: 23,662,776 (GRCm39)	I22K	possibly damaging	Het
Rtca	C	A	3: 116,291,323 (GRCm39)	R219L	possibly damaging	Het
Ryr2	G	A	13: 11,727,081 (GRCm39)	P2427S	probably damaging	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc39a11	A	G	11: 113,260,629 (GRCm39)	S176P	probably benign	Het
Slfn10-ps	A	G	11: 82,921,168 (GRCm39)		noncoding transcript	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Sult2a4	G	T	7: 13,649,185 (GRCm39)	P207Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tcstv1a	T	C	13: 120,355,282 (GRCm39)	T117A	probably damaging	Het
Tha1	A	G	11: 117,760,600 (GRCm39)	V208A	probably damaging	Het
Tmbim4	T	A	10: 120,060,658 (GRCm39)	I215N	probably damaging	Het
Tmem202	T	A	9: 59,427,483 (GRCm39)	I122F	probably benign	Het
Tomm70a	T	C	16: 56,942,234 (GRCm39)	S4P	unknown	Het
Tpcn2	A	G	7: 144,827,712 (GRCm39)		probably benign	Het
Trim36	A	T	18: 46,345,404 (GRCm39)	F10I	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Usp8	T	G	2: 126,579,495 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,533 (GRCm39)	Y81F	probably benign	Het
Vps36	G	T	8: 22,708,305 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,236,565 (GRCm39)		noncoding transcript	Het
Wnt3	A	G	11: 103,703,474 (GRCm39)	H319R	possibly damaging	Het
Zfp319	A	T	8: 96,050,391 (GRCm39)		probably benign	Het
Zfp408	T	C	2: 91,475,519 (GRCm39)	E545G	probably damaging	Het
Zfp799	C	T	17: 33,038,472 (GRCm39)	R598Q	possibly damaging	Het
Zfp831	T	C	2: 174,489,917 (GRCm39)	V1228A	probably benign	Het
Zfp938	T	C	10: 82,061,876 (GRCm39)	D248G	probably benign	Het

Other mutations in Dsc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dsc3	APN	18	20,118,688 (GRCm39)	missense	probably null	1.00
IGL01978:Dsc3	APN	18	20,107,253 (GRCm39)	missense	possibly damaging	0.79
IGL02101:Dsc3	APN	18	20,134,963 (GRCm39)	missense	probably benign	0.01
IGL02165:Dsc3	APN	18	20,116,709 (GRCm39)	missense	probably benign	0.06
IGL02543:Dsc3	APN	18	20,098,885 (GRCm39)	missense	probably benign	0.11
IGL02970:Dsc3	APN	18	20,101,317 (GRCm39)	missense	probably damaging	1.00
IGL03097:Dsc3	UTSW	18	20,107,105 (GRCm39)	missense	probably benign	0.30
R0133:Dsc3	UTSW	18	20,104,639 (GRCm39)	missense	probably damaging	0.96
R0304:Dsc3	UTSW	18	20,114,298 (GRCm39)	missense	probably damaging	1.00
R0360:Dsc3	UTSW	18	20,104,639 (GRCm39)	missense	possibly damaging	0.79
R0673:Dsc3	UTSW	18	20,122,647 (GRCm39)	missense	probably damaging	1.00
R0826:Dsc3	UTSW	18	20,114,229 (GRCm39)	missense	probably damaging	0.99
R1120:Dsc3	UTSW	18	20,120,034 (GRCm39)	missense	probably benign	0.05
R1491:Dsc3	UTSW	18	20,120,091 (GRCm39)	missense	probably damaging	0.99
R1667:Dsc3	UTSW	18	20,124,617 (GRCm39)	missense	possibly damaging	0.58
R1688:Dsc3	UTSW	18	20,099,284 (GRCm39)	missense	probably damaging	1.00
R1792:Dsc3	UTSW	18	20,120,055 (GRCm39)	missense	probably damaging	1.00
R1858:Dsc3	UTSW	18	20,098,773 (GRCm39)	missense	probably damaging	0.97
R1965:Dsc3	UTSW	18	20,113,729 (GRCm39)	missense	probably damaging	1.00
R1988:Dsc3	UTSW	18	20,098,903 (GRCm39)	missense	possibly damaging	0.86
R2049:Dsc3	UTSW	18	20,122,737 (GRCm39)	missense	possibly damaging	0.65
R2143:Dsc3	UTSW	18	20,113,743 (GRCm39)	missense	possibly damaging	0.81
R2144:Dsc3	UTSW	18	20,113,743 (GRCm39)	missense	possibly damaging	0.81
R2148:Dsc3	UTSW	18	20,098,695 (GRCm39)	missense	probably damaging	0.99
R3038:Dsc3	UTSW	18	20,124,617 (GRCm39)	missense	possibly damaging	0.58
R3872:Dsc3	UTSW	18	20,104,565 (GRCm39)	missense	probably damaging	0.99
R4229:Dsc3	UTSW	18	20,098,878 (GRCm39)	missense	probably damaging	1.00
R4298:Dsc3	UTSW	18	20,113,811 (GRCm39)	missense	possibly damaging	0.62
R4491:Dsc3	UTSW	18	20,134,922 (GRCm39)	missense	probably benign	0.30
R4590:Dsc3	UTSW	18	20,122,752 (GRCm39)	missense	probably damaging	1.00
R4615:Dsc3	UTSW	18	20,104,545 (GRCm39)	missense	possibly damaging	0.67
R5316:Dsc3	UTSW	18	20,096,598 (GRCm39)	missense	possibly damaging	0.67
R5758:Dsc3	UTSW	18	20,122,591 (GRCm39)	missense	probably damaging	1.00
R5796:Dsc3	UTSW	18	20,104,558 (GRCm39)	missense	probably benign	0.01
R5916:Dsc3	UTSW	18	20,120,077 (GRCm39)	missense	probably damaging	1.00
R6022:Dsc3	UTSW	18	20,099,395 (GRCm39)	missense	probably damaging	0.97
R6233:Dsc3	UTSW	18	20,098,852 (GRCm39)	missense	possibly damaging	0.77
R6351:Dsc3	UTSW	18	20,099,348 (GRCm39)	missense	probably benign	0.05
R6971:Dsc3	UTSW	18	20,099,275 (GRCm39)	critical splice donor site	probably null
R7261:Dsc3	UTSW	18	20,113,814 (GRCm39)	nonsense	probably null
R7442:Dsc3	UTSW	18	20,114,213 (GRCm39)	missense	probably damaging	1.00
R7795:Dsc3	UTSW	18	20,099,288 (GRCm39)	missense	probably damaging	1.00
R8051:Dsc3	UTSW	18	20,114,270 (GRCm39)	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	20,114,274 (GRCm39)	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	20,101,449 (GRCm39)	missense	probably benign
R8872:Dsc3	UTSW	18	20,122,679 (GRCm39)	missense	probably benign	0.02
R8927:Dsc3	UTSW	18	20,107,234 (GRCm39)	missense	probably benign
R8928:Dsc3	UTSW	18	20,107,234 (GRCm39)	missense	probably benign
R9140:Dsc3	UTSW	18	20,122,616 (GRCm39)	missense	probably benign	0.01
R9493:Dsc3	UTSW	18	20,122,752 (GRCm39)	nonsense	probably null
X0061:Dsc3	UTSW	18	20,122,684 (GRCm39)	missense	probably damaging	1.00
Z1177:Dsc3	UTSW	18	20,099,372 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTGTCTATAGTCACTTCTCAAGATC -3'
(R):5'- GATTCTGAGGAAAGAATAAGCACTC -3'

Sequencing Primer
(F):5'- GCTATCCCAAAAGTCCCCTCTGG -3'
(R):5'- CAGCAGGCAGACTAGCTTAATCTTG -3'

Posted On

2014-09-17