Mutagenetix > Incidental Mutation

Incidental Mutation 'R0409:Il21r'

36516

Institutional Source

Beutler Lab

Gene Symbol

Il21r

Ensembl Gene

ENSMUSG00000030745

Gene Name

interleukin 21 receptor

Synonyms

NILR

MMRRC Submission

038611-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0409 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

125202601-125232742 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 125229012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033000] [ENSMUST00000206103] [ENSMUST00000206234]

AlphaFold

Q9JHX3

Predicted Effect

probably benign
Transcript: ENSMUST00000033000

SMART Domains

Protein: ENSMUSP00000033000
Gene: ENSMUSG00000030745

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
FN3	120	209	3.4e0	SMART
low complexity region	239	250	N/A	INTRINSIC
low complexity region	307	312	N/A	INTRINSIC
low complexity region	424	450	N/A	INTRINSIC
low complexity region	466	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206103

Predicted Effect

probably benign
Transcript: ENSMUST00000206234

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mutation of this gene results in decreased immunoglobulin levels, decreased Th17 T cell differentation, and decreased production of IL-17. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,816 (GRCm39)	A89S	probably damaging	Het
Alkbh3	T	A	2: 93,831,793 (GRCm39)	I146F	possibly damaging	Het
Aox1	A	T	1: 58,375,783 (GRCm39)	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,385 (GRCm39)	V509G	possibly damaging	Het
Car7	G	A	8: 105,275,056 (GRCm39)	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,535,423 (GRCm39)	V271A	probably benign	Het
Cdc40	G	T	10: 40,723,164 (GRCm39)	H302N	probably damaging	Het
Cep104	C	T	4: 154,067,510 (GRCm39)		probably benign	Het
Cfap54	C	A	10: 92,612,075 (GRCm39)	S3161I	probably benign	Het
Chil5	A	G	3: 105,942,282 (GRCm39)		probably benign	Het
Chil6	C	T	3: 106,311,492 (GRCm39)	G96D	probably benign	Het
Cnot1	T	C	8: 96,475,483 (GRCm39)	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Disp3	T	G	4: 148,356,416 (GRCm39)	E148A	probably damaging	Het
Eps8l2	A	G	7: 140,922,893 (GRCm39)	Y52C	probably damaging	Het
Exph5	C	A	9: 53,285,643 (GRCm39)	T908K	probably benign	Het
Fat4	C	T	3: 39,031,562 (GRCm39)	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751 (GRCm39)	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,503 (GRCm39)	A235T	probably benign	Het
Fnip1	A	G	11: 54,371,180 (GRCm39)		probably null	Het
Fsd1l	T	C	4: 53,679,932 (GRCm39)	L210P	probably benign	Het
Gm6420	A	C	1: 23,295,119 (GRCm39)	S123R	unknown	Het
Gm8801	T	G	17: 36,258,268 (GRCm39)		noncoding transcript	Het
Gmfb	T	C	14: 47,053,679 (GRCm39)	I36V	probably benign	Het
Gsap	G	A	5: 21,427,443 (GRCm39)		probably benign	Het
Hectd1	T	A	12: 51,829,339 (GRCm39)	I969L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,063 (GRCm39)	F893L	possibly damaging	Het
Map2	A	G	1: 66,472,739 (GRCm39)	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,287,628 (GRCm39)	I1339T	possibly damaging	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Noc3l	A	G	19: 38,806,371 (GRCm39)		probably benign	Het
Nup93	A	G	8: 95,030,293 (GRCm39)	D384G	probably damaging	Het
Or5m9b	T	A	2: 85,905,646 (GRCm39)	C187*	probably null	Het
Or5p54	T	C	7: 107,554,433 (GRCm39)	I195T	probably benign	Het
Or8b40	C	T	9: 38,027,547 (GRCm39)	L152F	probably benign	Het
Pls1	A	T	9: 95,668,972 (GRCm39)		probably benign	Het
Prkcb	A	T	7: 122,024,200 (GRCm39)	H75L	probably damaging	Het
Rev1	A	T	1: 38,113,449 (GRCm39)	Y539*	probably null	Het
Rnf10	A	T	5: 115,393,506 (GRCm39)		probably benign	Het
Rnpepl1	A	G	1: 92,843,582 (GRCm39)	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,741,717 (GRCm39)		probably benign	Het
Sec23b	T	A	2: 144,409,832 (GRCm39)	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,755 (GRCm39)	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,257,228 (GRCm39)	R799L	probably benign	Het
Spata31g1	A	C	4: 42,972,203 (GRCm39)	K512T	probably damaging	Het
Tctn3	T	C	19: 40,599,860 (GRCm39)		probably benign	Het
Tex56	A	T	13: 35,108,532 (GRCm39)	I5L	probably benign	Het
Tfpt	G	A	7: 3,623,898 (GRCm39)	Q50*	probably null	Het
Trim80	T	C	11: 115,332,039 (GRCm39)	V77A	probably damaging	Het
Trp73	T	A	4: 154,148,841 (GRCm39)	D256V	possibly damaging	Het
Utrn	G	T	10: 12,519,345 (GRCm39)	N2202K	probably benign	Het
Vps13c	T	A	9: 67,858,926 (GRCm39)	F2792Y	probably benign	Het

Other mutations in Il21r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Il21r	APN	7	125,231,697 (GRCm39)	missense	probably damaging	1.00
bellflower	UTSW	7	125,227,215 (GRCm39)	critical splice acceptor site	probably null
R0573:Il21r	UTSW	7	125,224,457 (GRCm39)	missense	probably benign	0.06
R0635:Il21r	UTSW	7	125,231,678 (GRCm39)	missense	probably damaging	1.00
R1933:Il21r	UTSW	7	125,228,153 (GRCm39)	missense	possibly damaging	0.92
R1969:Il21r	UTSW	7	125,228,144 (GRCm39)	missense	probably damaging	0.99
R3716:Il21r	UTSW	7	125,231,441 (GRCm39)	missense	probably damaging	0.96
R3968:Il21r	UTSW	7	125,227,215 (GRCm39)	critical splice acceptor site	probably null
R4546:Il21r	UTSW	7	125,228,071 (GRCm39)	missense	probably damaging	1.00
R5086:Il21r	UTSW	7	125,232,027 (GRCm39)	missense	probably damaging	0.99
R5566:Il21r	UTSW	7	125,224,470 (GRCm39)	missense	probably damaging	1.00
R5988:Il21r	UTSW	7	125,231,460 (GRCm39)	missense	probably damaging	0.99
R6234:Il21r	UTSW	7	125,231,757 (GRCm39)	missense	probably damaging	1.00
R6259:Il21r	UTSW	7	125,229,891 (GRCm39)	missense	possibly damaging	0.65
R6896:Il21r	UTSW	7	125,226,128 (GRCm39)	missense	probably damaging	1.00
R7162:Il21r	UTSW	7	125,231,483 (GRCm39)	missense	probably benign	0.00
R7263:Il21r	UTSW	7	125,232,077 (GRCm39)	missense	probably benign	0.04
R7740:Il21r	UTSW	7	125,231,727 (GRCm39)	missense	possibly damaging	0.93
R8881:Il21r	UTSW	7	125,231,498 (GRCm39)	missense	probably benign	0.11
R9019:Il21r	UTSW	7	125,231,472 (GRCm39)	missense	probably damaging	0.98
R9182:Il21r	UTSW	7	125,228,213 (GRCm39)	missense	probably benign
R9327:Il21r	UTSW	7	125,226,163 (GRCm39)	missense	unknown
R9559:Il21r	UTSW	7	125,232,027 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGGATCAGAACCCAGCTTCCTTC -3'
(R):5'- GTGTGCCAAGTTTACAGGGTAGCC -3'

Sequencing Primer
(F):5'- CCAGCTTCCTTCCAGCC -3'
(R):5'- CATGGACCTGGGGTGGAAG -3'

Posted On

2013-05-09