Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Il20ra'

559554

Institutional Source

Beutler Lab

Gene Symbol

Il20ra

Ensembl Gene

ENSMUSG00000020007

Gene Name

interleukin 20 receptor, alpha

Synonyms

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19588318-19635801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19618689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 46 (I46F)

Ref Sequence

ENSEMBL: ENSMUSP00000020185 (fasta)

Gene Model

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

AlphaFold

Q6PHB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020185
AA Change: I46F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: I46F

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 damaging
Transcript: ENSMUST00000217389
AA Change: I46F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6189

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	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
R6845:Il20ra	UTSW	10	19,635,059 (GRCm39)	missense	probably benign	0.06
R7014:Il20ra	UTSW	10	19,588,458 (GRCm39)	missense	unknown
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'- CAGCACACACTCAGGTTCAGTC -3'
(R):5'- ACTGTTTCTGCCTCCACAAAAC -3'

Sequencing Primer
(F):5'- CAGGTTCAGTCTGAGAAGAAATACTC -3'
(R):5'- AGGAAATAGAAAGTTTATCTTTGCCC -3'

Posted On

2019-06-26