Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Il20ra'

531022

Institutional Source

Beutler Lab

Gene Symbol

Il20ra

Ensembl Gene

ENSMUSG00000020007

Gene Name

interleukin 20 receptor, alpha

Synonyms

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19588318-19635801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19626542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 189 (Y189H)

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: Y189H

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: Y189H

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	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
IGL01958:Il20ra	APN	10	19,634,791 (GRCm39)	missense	probably benign	0.39
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
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

Predicted Primers

PCR Primer
(F):5'- CCTATAGCTTTACCTCAGGGGAG -3'
(R):5'- ACAGAGTGCTTGCCTTGTATCTTG -3'

Sequencing Primer
(F):5'- TCACACCTAAAGATGTTTATACCCTC -3'
(R):5'- GCCTTGTATCTTGTGTGATATCTC -3'

Posted On

2018-08-01