Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Il20rb'

637273

Institutional Source

Beutler Lab

Gene Symbol

Il20rb

Ensembl Gene

ENSMUSG00000044244

Gene Name

interleukin 20 receptor beta

Synonyms

LOC213208, Il20R2, Fndc6

MMRRC Submission

067666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100339772-100368526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100341263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 281 (S281N)

Ref Sequence

ENSEMBL: ENSMUSP00000096057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098458]

AlphaFold

E9Q9A6

Predicted Effect

probably benign
Transcript: ENSMUST00000098458
AA Change: S281N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000096057
Gene: ENSMUSG00000044244
AA Change: S281N

Domain	Start	End	E-Value	Type
FN3	30	117	9.09e0	SMART
Pfam:Interfer-bind	131	222	7.6e-9	PFAM
transmembrane domain	228	250	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele display enhanced antigen-specific T cell responses. Mice homozygous for a reporter allele fail to exhibit epidermal hyperplasia in an interleukin-23 (IL-23)-dependent psoriasis mouse model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	A	14: 54,499,133 (GRCm39)	M38K	probably benign	Het
Ackr1	T	A	1: 173,159,582 (GRCm39)	R312S	probably benign	Het
Akap9	T	C	5: 4,094,845 (GRCm39)	V2213A	probably benign	Het
Alox5	T	A	6: 116,390,835 (GRCm39)	R439W	probably damaging	Het
Atrn	A	T	2: 130,864,920 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,601,209 (GRCm39)	N14S	probably damaging	Het
Cry2	T	C	2: 92,242,974 (GRCm39)	S542G	probably benign	Het
Cyb5rl	A	G	4: 106,925,935 (GRCm39)	Y39C	probably damaging	Het
Dmpk	A	T	7: 18,822,048 (GRCm39)	K335N	probably benign	Het
Dnai1	A	G	4: 41,625,221 (GRCm39)	D395G	probably benign	Het
Dock4	C	T	12: 40,884,837 (GRCm39)		probably null	Het
Eif1ad5	A	T	12: 87,940,508 (GRCm39)	I71L	noncoding transcript	Het
Fmo4	T	C	1: 162,632,757 (GRCm39)	D198G	probably damaging	Het
Foxc2	G	A	8: 121,844,777 (GRCm39)	R475Q	probably damaging	Het
Gipr	C	A	7: 18,898,533 (GRCm39)	G37V	unknown	Het
Gpat3	T	C	5: 101,005,076 (GRCm39)		probably null	Het
Hcn4	A	G	9: 58,751,433 (GRCm39)	D353G	unknown	Het
Hectd4	T	A	5: 121,477,607 (GRCm39)	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,469,761 (GRCm39)	V4973M	possibly damaging	Het
Kcnh4	A	T	11: 100,643,093 (GRCm39)	N391K	possibly damaging	Het
Kitl	A	G	10: 99,887,708 (GRCm39)	T6A	probably damaging	Het
Krt36	A	G	11: 99,995,027 (GRCm39)	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,202,668 (GRCm39)	I1262L		Het
Mtf1	A	G	4: 124,738,039 (GRCm39)	E644G	probably benign	Het
Mtx2	A	G	2: 74,699,706 (GRCm39)	Y159C	probably damaging	Het
Nags	C	T	11: 102,039,824 (GRCm39)	S504F	probably damaging	Het
Ncam1	A	T	9: 49,456,523 (GRCm39)	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,178 (GRCm39)	T213N	possibly damaging	Het
Or52m1	T	A	7: 102,289,678 (GRCm39)	L75Q	probably damaging	Het
Or8h8	A	G	2: 86,753,313 (GRCm39)	S188P	probably damaging	Het
Pkm	T	C	9: 59,577,882 (GRCm39)	V233A	possibly damaging	Het
Pros1	T	A	16: 62,748,540 (GRCm39)	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,855,118 (GRCm39)	I121V	probably damaging	Het
Relch	T	C	1: 105,681,235 (GRCm39)	S1180P	possibly damaging	Het
Samhd1	A	G	2: 156,958,270 (GRCm39)		probably null	Het
Serpinb9f	A	T	13: 33,509,898 (GRCm39)	Y30F	probably benign	Het
Slc5a10	T	C	11: 61,564,107 (GRCm39)	I543V	probably benign	Het
Stat5a	A	G	11: 100,770,129 (GRCm39)	I469V	possibly damaging	Het
Sugct	T	C	13: 17,032,459 (GRCm39)	E431G	probably benign	Het
Tecr	C	A	8: 84,299,880 (GRCm39)	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,439,002 (GRCm39)	N106S	probably benign	Het
Triml1	T	C	8: 43,594,285 (GRCm39)	S49G	probably benign	Het
Trpm3	T	A	19: 22,692,640 (GRCm39)	S244T	possibly damaging	Het
Ttn	T	C	2: 76,553,324 (GRCm39)	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242 (GRCm39)	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,804,691 (GRCm39)	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,234,074 (GRCm39)	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,601,235 (GRCm39)	K844N	probably benign	Het

Other mutations in Il20rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Il20rb	APN	9	100,355,207 (GRCm39)	missense	probably damaging	1.00
IGL02943:Il20rb	APN	9	100,348,305 (GRCm39)	missense	probably benign	0.00
IGL03368:Il20rb	APN	9	100,341,174 (GRCm39)	utr 3 prime	probably benign
IGL03396:Il20rb	APN	9	100,341,251 (GRCm39)	missense	probably damaging	0.99
IGL03412:Il20rb	APN	9	100,357,049 (GRCm39)	missense	probably benign	0.00
R0157:Il20rb	UTSW	9	100,355,132 (GRCm39)	missense	probably damaging	1.00
R4591:Il20rb	UTSW	9	100,357,043 (GRCm39)	missense	possibly damaging	0.61
R4948:Il20rb	UTSW	9	100,343,592 (GRCm39)	splice site	probably benign
R5622:Il20rb	UTSW	9	100,368,371 (GRCm39)	missense	probably benign	0.15
R6448:Il20rb	UTSW	9	100,356,986 (GRCm39)	missense	probably benign	0.03
R7013:Il20rb	UTSW	9	100,343,481 (GRCm39)	missense	probably benign	0.10
R7502:Il20rb	UTSW	9	100,350,479 (GRCm39)	missense	probably damaging	0.98
R7916:Il20rb	UTSW	9	100,348,304 (GRCm39)	missense	probably benign	0.01
R8015:Il20rb	UTSW	9	100,356,947 (GRCm39)	missense	probably damaging	1.00
R9143:Il20rb	UTSW	9	100,356,936 (GRCm39)	missense	probably damaging	1.00
R9381:Il20rb	UTSW	9	100,343,541 (GRCm39)	missense	possibly damaging	0.60
R9450:Il20rb	UTSW	9	100,355,055 (GRCm39)	missense	possibly damaging	0.47
R9595:Il20rb	UTSW	9	100,368,311 (GRCm39)	missense	possibly damaging	0.91
R9727:Il20rb	UTSW	9	100,357,001 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGTCTTTTGTCCACAGAGG -3'
(R):5'- GGCCTGAACATAAGAGCACATG -3'

Sequencing Primer
(F):5'- TCCACAGAGGAAAACAGAAACAC -3'
(R):5'- GCCTGAACATAAGAGCACATGTATCC -3'

Posted On

2020-07-13