Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Dsc3'

218328

Institutional Source

Beutler Lab

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

5430426I24Rik

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20093987-20135408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20113729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 398 (G398R)

Ref Sequence

ENSEMBL: ENSMUSP00000153261 (fasta)

Gene Model

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

AlphaFold

P55850

Predicted Effect

probably damaging
Transcript: ENSMUST00000115848
AA Change: G398R

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

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: G398R

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 damaging
Transcript: ENSMUST00000225110
AA Change: G398R

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	probably damaging	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
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
R2127:Dsc3	UTSW	18	20,101,411 (GRCm39)	missense	probably benign	0.00
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'- GCACAGACACTTTAACCTCTTCTG -3'
(R):5'- ATCCTTTGAGGCATGTGCTC -3'

Sequencing Primer
(F):5'- GTTTCTCACTGGCTACTACAGAATTC -3'
(R):5'- CCTTTGAGGCATGTGCTCATTTATG -3'

Posted On

2014-08-01