Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Dsc3'

163785

Institutional Source

Beutler Lab

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

5430426I24Rik

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20093987-20135408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20120091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 189 (E189G)

Ref Sequence

ENSEMBL: ENSMUSP00000153261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000223946] [ENSMUST00000225110]

AlphaFold

P55850

Predicted Effect

probably damaging
Transcript: ENSMUST00000115848
AA Change: E189G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: E189G

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: ENSMUST00000223946

Predicted Effect

probably damaging
Transcript: ENSMUST00000225110
AA Change: E189G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgap2	A	G	2: 91,105,204 (GRCm39)	K423E	probably damaging	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Glrb	A	T	3: 80,819,282 (GRCm39)	C39S	possibly damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Hyal5	A	G	6: 24,877,902 (GRCm39)	T333A	probably benign	Het
Ippk	T	C	13: 49,615,069 (GRCm39)	V484A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
Or9a2	T	C	6: 41,748,456 (GRCm39)	Y259C	possibly damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (GRCm39)		probably null	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
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
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'- TCCAACACACAGTGAATGCTATTCTCC -3'
(R):5'- GTGCTTGCCATCAAGGTTGATGC -3'

Sequencing Primer
(F):5'- CACAGTGAATGCTATTCTCCTTAGAC -3'
(R):5'- acatacatacatgcatacaagcac -3'

Posted On

2014-03-28