Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Il20ra'

534721

Institutional Source

Beutler Lab

Gene Symbol

Il20ra

Ensembl Gene

ENSMUSG00000020007

Gene Name

interleukin 20 receptor, alpha

Synonyms

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19588318-19635801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19635059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 433 (I433M)

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: I433M

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: I433M

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		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
R6755:Il20ra	UTSW	10	19,626,542 (GRCm39)	missense	probably benign	0.15
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'- TCTTCGCATTTGATGGACGC -3'
(R):5'- GACCATAGTTCTCAGGATCACGG -3'

Sequencing Primer
(F):5'- TCTGTGGTGCTGAGCAAAGAGAC -3'
(R):5'- TAGTTCTCAGGATCACGGCCAAAG -3'

Posted On

2018-09-12