Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Il20ra'

713446

Institutional Source

Beutler Lab

Gene Symbol

Il20ra

Ensembl Gene

ENSMUSG00000020007

Gene Name

interleukin 20 receptor, alpha

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19588318-19635801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19618751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 66 (H66Q)

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: H66Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: H66Q

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
AA Change: H66Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,048 (GRCm39)	E412D	probably benign	Het
Aak1	T	A	6: 86,933,274 (GRCm39)	V415D	probably damaging	Het
Ache	A	C	5: 137,289,185 (GRCm39)	D297A	probably damaging	Het
Armc9	T	C	1: 86,084,687 (GRCm39)	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,851,492 (GRCm39)	Y925F		Het
Avpr1b	T	C	1: 131,528,029 (GRCm39)	L184P	probably damaging	Het
Cabin1	G	A	10: 75,581,069 (GRCm39)	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,884,597 (GRCm39)	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,127,617 (GRCm39)	C40*	probably null	Het
Col6a3	A	T	1: 90,744,155 (GRCm39)	I471N	probably damaging	Het
Cp	A	G	3: 20,046,671 (GRCm39)		probably null	Het
Cyfip2	C	T	11: 46,091,668 (GRCm39)	R1084Q	probably damaging	Het
Diaph1	A	G	18: 38,029,412 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,012,330 (GRCm39)	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,621,438 (GRCm39)	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,715,030 (GRCm39)	M809K	probably damaging	Het
Fcgbp	C	A	7: 27,803,436 (GRCm39)	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,515,207 (GRCm39)	F1072L	probably damaging	Het
Gm19410	G	T	8: 36,248,810 (GRCm39)	A549S	probably damaging	Het
Gm57859	C	T	11: 113,583,229 (GRCm39)	Q519*	probably null	Het
Gnat1	A	T	9: 107,553,511 (GRCm39)	I249N		Het
Gp2	T	C	7: 119,053,433 (GRCm39)	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,277,248 (GRCm39)	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,610,397 (GRCm39)	E21V	probably damaging	Het
Igkv4-80	T	A	6: 68,993,793 (GRCm39)	M33L	probably benign	Het
Kap	C	T	6: 133,828,950 (GRCm39)	D61N	probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mpp7	A	T	18: 7,461,692 (GRCm39)	Y60*	probably null	Het
Neil1	T	A	9: 57,051,098 (GRCm39)	R294*	probably null	Het
Nkx6-3	A	G	8: 23,643,778 (GRCm39)	S60G	probably benign	Het
Noc2l	T	A	4: 156,326,130 (GRCm39)	S406T	possibly damaging	Het
Or11m3	T	C	15: 98,396,247 (GRCm39)	V298A	possibly damaging	Het
Or14j2	A	G	17: 37,885,825 (GRCm39)	I163T	probably benign	Het
Or2h2c	A	G	17: 37,422,205 (GRCm39)	V223A	probably damaging	Het
Or2t46	T	C	11: 58,472,104 (GRCm39)	C145R	probably benign	Het
Or51ac3	T	G	7: 103,214,049 (GRCm39)	I146L	probably benign	Het
Or5p81	T	C	7: 108,266,626 (GRCm39)	M1T	probably null	Het
Paqr4	A	G	17: 23,958,939 (GRCm39)	F21L	probably damaging	Het
Pcdha9	A	G	18: 37,131,527 (GRCm39)	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,884,917 (GRCm39)	L29P	probably benign	Het
Pfkl	G	A	10: 77,831,172 (GRCm39)	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,528,041 (GRCm39)	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,274,189 (GRCm39)	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,278,659 (GRCm39)	Y191H	probably damaging	Het
Plod3	G	A	5: 137,023,036 (GRCm39)	V613I	probably benign	Het
Prr23a2	C	T	9: 98,738,921 (GRCm39)	T93I	probably damaging	Het
Ptk6	T	A	2: 180,840,206 (GRCm39)	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,492,432 (GRCm39)		probably null	Het
Ralgapa2	T	C	2: 146,254,058 (GRCm39)	H787R	probably benign	Het
Rfx8	T	G	1: 39,724,669 (GRCm39)	M231L	probably benign	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Smpd4	A	G	16: 17,459,451 (GRCm39)	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,765,740 (GRCm39)	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,743,899 (GRCm39)	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,665,535 (GRCm39)	R758C	probably damaging	Het
Vmn1r210	A	C	13: 23,011,397 (GRCm39)	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,818,714 (GRCm39)	V857I	probably benign	Het
Zfyve9	T	C	4: 108,501,538 (GRCm39)	T593A	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGGGCCATCTTTAGAGATC -3'
(R):5'- GAACGTTAACTGTTTCTGCCTC -3'

Sequencing Primer
(F):5'- CATCTTTAGAGATCAGCCAACTTAC -3'
(R):5'- GTTAACTGTTTCTGCCTCCACAAAAC -3'

Posted On

2022-05-16