Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Il20ra'

181475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il20ra

Ensembl Gene

ENSMUSG00000020007

Gene Name

interleukin 20 receptor, alpha

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

19588318-19635801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19634791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 344 (D344G)

Ref Sequence

ENSEMBL: ENSMUSP00000020185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020185] [ENSMUST00000217389]

AlphaFold

Q6PHB0

Predicted Effect

probably benign
Transcript: ENSMUST00000020185
AA Change: D344G

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: D344G

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	16	126	1.8e-33	PFAM
Pfam:Interfer-bind	138	243	4.6e-23	PFAM
transmembrane domain	255	277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217389

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone mineral density, impaired osteoclast differentiation, and resistance to ovariectomized-inducced bone loss. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,629,659 (GRCm39)	I29T	probably damaging	Het
Agps	G	A	2: 75,740,045 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,393,794 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,992,273 (GRCm39)	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,852,853 (GRCm39)	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,806,125 (GRCm39)	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904 (GRCm39)	E674G	possibly damaging	Het
Atat1	T	A	17: 36,219,735 (GRCm39)		probably benign	Het
Ccar1	G	A	10: 62,626,714 (GRCm39)	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,321,001 (GRCm39)	D14G	probably damaging	Het
Cdh15	T	C	8: 123,586,089 (GRCm39)	F156S	probably damaging	Het
Dctn1	A	G	6: 83,168,326 (GRCm39)	T525A	possibly damaging	Het
Dnah8	T	G	17: 31,074,869 (GRCm39)		probably benign	Het
Dnajc10	T	A	2: 80,151,648 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,300,489 (GRCm39)	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,954 (GRCm39)	T149I	probably damaging	Het
Fgd6	A	G	10: 93,974,170 (GRCm39)	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,766 (GRCm39)		noncoding transcript	Het
Gnai1	A	G	5: 18,478,568 (GRCm39)	F199S	probably damaging	Het
Grb7	T	A	11: 98,345,480 (GRCm39)	V480D	probably damaging	Het
Hdc	A	G	2: 126,436,452 (GRCm39)	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,479,622 (GRCm39)	N4614S	probably benign	Het
Ints1	C	T	5: 139,745,843 (GRCm39)	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,465,562 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,236,285 (GRCm39)	L339P	probably damaging	Het
Klhl22	A	G	16: 17,594,326 (GRCm39)	I152V	probably benign	Het
Krtap5-2	C	A	7: 141,729,459 (GRCm39)	G74*	probably null	Het
Lrrc59	C	A	11: 94,529,354 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,710,873 (GRCm39)	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,646,495 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,463,053 (GRCm39)		probably benign	Het
Myrf	A	G	19: 10,187,742 (GRCm39)		probably benign	Het
Nek11	T	C	9: 105,177,502 (GRCm39)	T250A	probably benign	Het
Nek5	A	T	8: 22,586,842 (GRCm39)	V323E	probably benign	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nup210l	T	A	3: 90,111,231 (GRCm39)	L1711Q	possibly damaging	Het
Parp8	T	G	13: 117,013,108 (GRCm39)	K644Q	probably benign	Het
Pcnt	G	T	10: 76,269,513 (GRCm39)	Q252K	probably damaging	Het
Pianp	A	G	6: 124,977,646 (GRCm39)	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,799,298 (GRCm39)	V2839A	probably damaging	Het
Poli	C	T	18: 70,659,657 (GRCm39)	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,890,353 (GRCm39)	D447G	probably benign	Het
Rapgef5	A	G	12: 117,694,386 (GRCm39)	I637V	probably benign	Het
Rasip1	A	T	7: 45,286,188 (GRCm39)	R804*	probably null	Het
Relt	A	G	7: 100,500,350 (GRCm39)	V113A	probably benign	Het
Rnf215	G	T	11: 4,090,317 (GRCm39)	C345F	probably damaging	Het
Scart2	T	C	7: 139,854,040 (GRCm39)	C348R	probably damaging	Het
Scn2a	A	G	2: 65,532,173 (GRCm39)	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,307,316 (GRCm39)	V183M	probably damaging	Het
Snapc4	T	C	2: 26,256,452 (GRCm39)		probably benign	Het
Sparcl1	A	T	5: 104,240,406 (GRCm39)	D339E	probably benign	Het
Tg	T	C	15: 66,631,335 (GRCm39)	F535L	probably benign	Het
Zbtb45	C	A	7: 12,740,203 (GRCm39)	A471S	probably benign	Het
Zfp106	T	A	2: 120,365,288 (GRCm39)	K373M	probably benign	Het

Other mutations in Il20ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01929:Il20ra	APN	10	19,635,019 (GRCm39)	missense	probably benign	0.01
IGL01936:Il20ra	APN	10	19,631,591 (GRCm39)	missense	probably damaging	1.00
IGL02109:Il20ra	APN	10	19,635,253 (GRCm39)	missense	possibly damaging	0.80
IGL02207:Il20ra	APN	10	19,627,326 (GRCm39)	missense	probably damaging	0.99
IGL02234:Il20ra	APN	10	19,625,018 (GRCm39)	missense	probably damaging	1.00
IGL02959:Il20ra	APN	10	19,634,789 (GRCm39)	missense	probably benign	0.10
IGL03010:Il20ra	APN	10	19,624,960 (GRCm39)	missense	probably damaging	1.00
P0017:Il20ra	UTSW	10	19,635,154 (GRCm39)	missense	probably damaging	1.00
R0518:Il20ra	UTSW	10	19,635,388 (GRCm39)	missense	probably damaging	1.00
R0521:Il20ra	UTSW	10	19,635,388 (GRCm39)	missense	probably damaging	1.00
R1436:Il20ra	UTSW	10	19,625,000 (GRCm39)	missense	probably damaging	1.00
R1714:Il20ra	UTSW	10	19,631,576 (GRCm39)	missense	probably damaging	0.98
R1792:Il20ra	UTSW	10	19,635,384 (GRCm39)	missense	probably damaging	0.99
R1852:Il20ra	UTSW	10	19,618,767 (GRCm39)	missense	probably damaging	1.00
R2097:Il20ra	UTSW	10	19,635,211 (GRCm39)	missense	probably damaging	1.00
R4559:Il20ra	UTSW	10	19,625,032 (GRCm39)	missense	probably damaging	0.99
R4970:Il20ra	UTSW	10	19,634,691 (GRCm39)	missense	possibly damaging	0.61
R5112:Il20ra	UTSW	10	19,634,691 (GRCm39)	missense	possibly damaging	0.61
R5267:Il20ra	UTSW	10	19,625,107 (GRCm39)	missense	probably damaging	0.99
R6543:Il20ra	UTSW	10	19,625,071 (GRCm39)	missense	probably damaging	1.00
R6755:Il20ra	UTSW	10	19,626,542 (GRCm39)	missense	probably benign	0.15
R6845:Il20ra	UTSW	10	19,635,059 (GRCm39)	missense	probably benign	0.06
R7014:Il20ra	UTSW	10	19,588,458 (GRCm39)	missense	unknown
R7190:Il20ra	UTSW	10	19,618,689 (GRCm39)	missense	probably damaging	0.99
R8134:Il20ra	UTSW	10	19,626,452 (GRCm39)	missense	probably damaging	0.99
R8955:Il20ra	UTSW	10	19,635,160 (GRCm39)	missense	possibly damaging	0.57
R9104:Il20ra	UTSW	10	19,635,364 (GRCm39)	missense	probably benign	0.21
R9439:Il20ra	UTSW	10	19,618,751 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07