Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01328:Dsc2'

74399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2a, Dsc2b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

20163690-20192611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20181343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 155 (F155I)

Ref Sequence

ENSEMBL: ENSMUSP00000074702 (fasta)

Gene Model

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

AlphaFold

P55292

Predicted Effect

probably damaging
Transcript: ENSMUST00000039247
AA Change: F155I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: F155I

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

probably damaging
Transcript: ENSMUST00000075214
AA Change: F155I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: F155I

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 benign
Transcript: ENSMUST00000128464

SMART Domains

Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,181,954 (GRCm39)	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,155,232 (GRCm39)	V151I	probably benign	Het
Ano5	G	A	7: 51,206,019 (GRCm39)		probably null	Het
Arhgef28	A	T	13: 98,106,831 (GRCm39)	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,354,637 (GRCm39)	H247R	probably damaging	Het
Clec12b	A	T	6: 129,356,517 (GRCm39)	W216R	probably damaging	Het
Clnk	C	T	5: 38,941,871 (GRCm39)	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,055,049 (GRCm39)	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,773 (GRCm39)	M635I	probably damaging	Het
Dlg5	A	G	14: 24,252,419 (GRCm39)	V107A	probably damaging	Het
Dtwd1	A	G	2: 126,006,739 (GRCm39)	I254V	probably damaging	Het
Dzip3	A	T	16: 48,792,621 (GRCm39)	D221E	probably damaging	Het
F13b	T	A	1: 139,435,820 (GRCm39)		probably benign	Het
Fam131b	G	A	6: 42,295,206 (GRCm39)	L324F	probably damaging	Het
Fam83a	A	T	15: 57,849,901 (GRCm39)	R148S	probably damaging	Het
Farsb	T	C	1: 78,447,729 (GRCm39)	I236V	probably benign	Het
Fat4	T	A	3: 39,034,807 (GRCm39)	F2820I	probably damaging	Het
Fat4	T	A	3: 38,944,140 (GRCm39)	V1011E	probably damaging	Het
Fgf7	A	G	2: 125,930,164 (GRCm39)	E99G	probably damaging	Het
Fign	T	C	2: 63,809,216 (GRCm39)	T685A	probably damaging	Het
Fubp1	G	A	3: 151,925,855 (GRCm39)	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530 (GRCm39)	M477I	probably damaging	Het
Gm14496	A	G	2: 181,637,673 (GRCm39)	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,807,904 (GRCm39)	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,420,697 (GRCm39)		probably null	Het
Irs2	C	A	8: 11,054,792 (GRCm39)	Q1213H	probably damaging	Het
Jak3	C	T	8: 72,132,264 (GRCm39)	R210C	probably damaging	Het
Klk1b27	T	C	7: 43,705,303 (GRCm39)	S157P	probably damaging	Het
Klri1	T	C	6: 129,675,800 (GRCm39)	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,713,223 (GRCm39)	G395*	probably null	Het
Mx1	T	A	16: 97,256,832 (GRCm39)	I116F	probably damaging	Het
Oip5	A	C	2: 119,442,314 (GRCm39)	M200R	possibly damaging	Het
Or10ag56	T	A	2: 87,139,925 (GRCm39)	L284Q	possibly damaging	Het
Or10g3	T	C	14: 52,609,967 (GRCm39)	D181G	probably damaging	Het
Or4b1d	T	C	2: 89,969,418 (GRCm39)	K22E	probably benign	Het
Or4k39	A	G	2: 111,239,564 (GRCm39)	Y268C	probably damaging	Het
Pamr1	T	A	2: 102,472,482 (GRCm39)	S594T	probably benign	Het
Phf13	C	T	4: 152,080,285 (GRCm39)	E13K	probably benign	Het
Plekha6	A	T	1: 133,200,074 (GRCm39)		probably null	Het
Rad17	A	C	13: 100,754,311 (GRCm39)	N636K	probably benign	Het
Rad21	T	A	15: 51,836,520 (GRCm39)	D217V	probably damaging	Het
Slc7a10	A	G	7: 34,885,917 (GRCm39)	D4G	possibly damaging	Het
Stc1	A	G	14: 69,275,726 (GRCm39)	D173G	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tex15	C	T	8: 34,061,424 (GRCm39)	Q559*	probably null	Het
Trim44	T	A	2: 102,230,365 (GRCm39)	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,767 (GRCm39)	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,288,365 (GRCm39)	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,545,819 (GRCm39)	T564A	probably benign	Het
Vsir	C	A	10: 60,203,539 (GRCm39)		probably benign	Het
Vwc2l	T	A	1: 70,768,163 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,871,850 (GRCm39)	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,000,382 (GRCm39)	K208*	probably null	Het
Zfhx4	C	A	3: 5,309,344 (GRCm39)	L857M	probably damaging	Het
Zfp180	A	G	7: 23,800,904 (GRCm39)	D53G	probably benign	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
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
R0940:Dsc2	UTSW	18	20,183,116 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2013-10-07