Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Dsc3'

577057

Institutional Source

Beutler Lab

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19960930-20002351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19981156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 347 (D347G)

Ref Sequence

ENSEMBL: ENSMUSP00000111514 (fasta)

Gene Model

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

AlphaFold

P55850

Predicted Effect

probably damaging
Transcript: ENSMUST00000115848
AA Change: D347G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: D347G

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: D347G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.7318

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,290	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,647,247	S465P	possibly damaging	Het
Acap3	T	C	4: 155,905,621	F753L	probably damaging	Het
Adam9	A	T	8: 24,967,207	V635E	probably damaging	Het
Adgre4	T	A	17: 55,852,340	V675E	probably benign	Het
Anapc4	T	C	5: 52,857,201	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,424,760	K325N	possibly damaging	Het
Aox1	T	C	1: 58,082,013	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,516,956	T237A	probably benign	Het
Asah1	T	C	8: 41,343,565	D331G	possibly damaging	Het
Atp5a1	G	A	18: 77,779,120	R231H	probably benign	Het
Bod1l	G	A	5: 41,807,179	P2694L	probably damaging	Het
Bst1	T	C	5: 43,821,742	S143P	probably benign	Het
Cacna1b	A	C	2: 24,607,501	S2132A	probably benign	Het
Caps2	G	T	10: 112,208,354	R486L	probably damaging	Het
Cd68	T	C	11: 69,665,928	T18A	probably benign	Het
Cdk8	T	C	5: 146,292,769		probably null	Het
Col18a1	A	T	10: 77,096,238	I127N	unknown	Het
Dusp27	T	C	1: 166,101,015	K343E	probably benign	Het
Dyrk2	T	C	10: 118,859,881	S491G	probably damaging	Het
Edem1	T	A	6: 108,851,305	Y530*	probably null	Het
Enc1	A	T	13: 97,246,740	H586L	probably benign	Het
Ephb6	T	G	6: 41,618,047		probably null	Het
Etv5	G	T	16: 22,436,059	Q48K	probably damaging	Het
Exoc3l	A	G	8: 105,292,926	W404R	probably damaging	Het
Fbn1	C	A	2: 125,403,212	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,925,293	S241P	unknown	Het
Gm49380	T	A	9: 44,112,412	M180L	probably benign	Het
Gm8251	A	G	1: 44,058,708	S1077P	possibly damaging	Het
Hoxd1	A	T	2: 74,763,559	D153V	probably damaging	Het
Ifi207	C	T	1: 173,727,431	S895N	probably benign	Het
Igf1r	G	A	7: 68,173,278	V385M	probably damaging	Het
Ints9	C	T	14: 64,995,064	Q191*	probably null	Het
Ktn1	A	G	14: 47,714,640	E979G	probably benign	Het
Lama3	G	A	18: 12,472,181		probably null	Het
Lrtm2	C	T	6: 119,317,431	M246I	probably damaging	Het
Mdm1	T	C	10: 118,146,685	V75A	probably benign	Het
Mia3	T	C	1: 183,358,876	E165G	probably benign	Het
Mrps21	T	C	3: 95,862,816	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,526,293	I995S	probably damaging	Het
Mylk2	T	G	2: 152,911,426		probably benign	Het
Myo16	G	A	8: 10,272,537	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,579,358	D134A	probably benign	Het
Obox1	G	T	7: 15,555,566	K93N	probably benign	Het
Olfr1019	A	T	2: 85,841,752	V13D	probably benign	Het
Olfr102	T	A	17: 37,313,925	H153L	possibly damaging	Het
Olfr457	A	T	6: 42,471,500	M226K	probably benign	Het
Olfr684	T	C	7: 105,157,082	Y200C	probably damaging	Het
Pkd2l1	T	C	19: 44,157,229	H185R	probably benign	Het
Ptpn18	A	G	1: 34,462,750	T48A	probably benign	Het
Ptprd	A	T	4: 76,059,821	Y583*	probably null	Het
Ptprk	G	A	10: 28,574,819	G992D	probably damaging	Het
Setdb2	A	G	14: 59,419,251	F206L	probably damaging	Het
Slain1	A	G	14: 103,685,714	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,089,086	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,345,523	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,474,126	V685A	probably benign	Het
Srp54c	T	A	12: 55,255,562	Y333N	probably damaging	Het
Srrm2	T	C	17: 23,820,117	S1912P	unknown	Het
St7l	A	G	3: 104,889,329	T253A	possibly damaging	Het
Sun3	T	G	11: 9,031,445	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,512,909	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,320,781	S648R	probably damaging	Het
Tmem178	T	A	17: 80,944,756	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,690	G22W	probably damaging	Het
Top3a	C	T	11: 60,753,918	S320N	possibly damaging	Het
Treml1	C	A	17: 48,366,691	D243E	probably damaging	Het
Trim42	C	T	9: 97,362,945	V601M	probably damaging	Het
Ttn	A	G	2: 76,743,006	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 13,102,056	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,573,400	F2S	probably benign	Het
Xpc	A	G	6: 91,504,649	L230P	probably damaging	Het
Xpo4	A	G	14: 57,630,223	V189A	probably benign	Het
Zfhx3	A	G	8: 108,792,836	T197A	probably damaging	Het
Zswim1	A	G	2: 164,825,790	K321E	probably damaging	Het

Other mutations in Dsc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dsc3	APN	18	19985631	missense	probably null	1.00
IGL01978:Dsc3	APN	18	19974196	missense	possibly damaging	0.79
IGL02101:Dsc3	APN	18	20001906	missense	probably benign	0.01
IGL02165:Dsc3	APN	18	19983652	missense	probably benign	0.06
IGL02543:Dsc3	APN	18	19965828	missense	probably benign	0.11
IGL02970:Dsc3	APN	18	19968260	missense	probably damaging	1.00
IGL03097:Dsc3	UTSW	18	19974048	missense	probably benign	0.30
R0133:Dsc3	UTSW	18	19971582	missense	probably damaging	0.96
R0304:Dsc3	UTSW	18	19981241	missense	probably damaging	1.00
R0360:Dsc3	UTSW	18	19971582	missense	possibly damaging	0.79
R0673:Dsc3	UTSW	18	19989590	missense	probably damaging	1.00
R0826:Dsc3	UTSW	18	19981172	missense	probably damaging	0.99
R1120:Dsc3	UTSW	18	19986977	missense	probably benign	0.05
R1491:Dsc3	UTSW	18	19987034	missense	probably damaging	0.99
R1667:Dsc3	UTSW	18	19991560	missense	possibly damaging	0.58
R1688:Dsc3	UTSW	18	19966227	missense	probably damaging	1.00
R1792:Dsc3	UTSW	18	19986998	missense	probably damaging	1.00
R1858:Dsc3	UTSW	18	19965716	missense	probably damaging	0.97
R1965:Dsc3	UTSW	18	19980672	missense	probably damaging	1.00
R1988:Dsc3	UTSW	18	19965846	missense	possibly damaging	0.86
R2049:Dsc3	UTSW	18	19989680	missense	possibly damaging	0.65
R2127:Dsc3	UTSW	18	19968354	missense	probably benign	0.00
R2143:Dsc3	UTSW	18	19980686	missense	possibly damaging	0.81
R2144:Dsc3	UTSW	18	19980686	missense	possibly damaging	0.81
R2148:Dsc3	UTSW	18	19965638	missense	probably damaging	0.99
R3038:Dsc3	UTSW	18	19991560	missense	possibly damaging	0.58
R3872:Dsc3	UTSW	18	19971508	missense	probably damaging	0.99
R4229:Dsc3	UTSW	18	19965821	missense	probably damaging	1.00
R4298:Dsc3	UTSW	18	19980754	missense	possibly damaging	0.62
R4491:Dsc3	UTSW	18	20001865	missense	probably benign	0.30
R4590:Dsc3	UTSW	18	19989695	missense	probably damaging	1.00
R4615:Dsc3	UTSW	18	19971488	missense	possibly damaging	0.67
R5316:Dsc3	UTSW	18	19963541	missense	possibly damaging	0.67
R5758:Dsc3	UTSW	18	19989534	missense	probably damaging	1.00
R5796:Dsc3	UTSW	18	19971501	missense	probably benign	0.01
R5916:Dsc3	UTSW	18	19987020	missense	probably damaging	1.00
R6022:Dsc3	UTSW	18	19966338	missense	probably damaging	0.97
R6233:Dsc3	UTSW	18	19965795	missense	possibly damaging	0.77
R6351:Dsc3	UTSW	18	19966291	missense	probably benign	0.05
R6971:Dsc3	UTSW	18	19966218	critical splice donor site	probably null
R7261:Dsc3	UTSW	18	19980757	nonsense	probably null
R7795:Dsc3	UTSW	18	19966231	missense	probably damaging	1.00
R8051:Dsc3	UTSW	18	19981213	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	19968392	missense	probably benign
R8531:Dsc3	UTSW	18	19981217	missense	probably damaging	1.00
R8872:Dsc3	UTSW	18	19989622	missense	probably benign	0.02
R8927:Dsc3	UTSW	18	19974177	missense	probably benign
R8928:Dsc3	UTSW	18	19974177	missense	probably benign
R9140:Dsc3	UTSW	18	19989559	missense	probably benign	0.01
R9493:Dsc3	UTSW	18	19989695	nonsense	probably null
X0061:Dsc3	UTSW	18	19989627	missense	probably damaging	1.00
Z1177:Dsc3	UTSW	18	19966315	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTCAACAAGAGGTAGATCACAT -3'
(R):5'- CTGACTTTCCTATTTCATGTTAGGACA -3'

Sequencing Primer
(F):5'- ACATGCCTCAAAGGATGG -3'
(R):5'- AGTATGTCTTTTCCAAATTACCTTCC -3'

Posted On

2019-10-07