Mutagenetix > Incidental Mutation

Incidental Mutation 'R4546:Il21r'

333776

Institutional Source

Beutler Lab

Gene Symbol

Il21r

Ensembl Gene

ENSMUSG00000030745

Gene Name

interleukin 21 receptor

Synonyms

NILR

MMRRC Submission

041780-MU

Accession Numbers

Essential gene?

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

Stock #

R4546 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

125202601-125232742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125228071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 181 (R181G)

Ref Sequence

ENSEMBL: ENSMUSP00000033000 (fasta)

Gene Model

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

AlphaFold

Q9JHX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033000
AA Change: R181G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033000
Gene: ENSMUSG00000030745
AA Change: R181G

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 damaging
Transcript: ENSMUST00000206103
AA Change: R181G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206234

Meta Mutation Damage Score

0.3050

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (65/67)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	A	14: 70,393,927 (GRCm39)	S236L	probably benign	Het
Ahcyl	C	T	16: 45,974,330 (GRCm39)	C349Y	possibly damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Alpi	T	A	1: 87,026,839 (GRCm39)	Y413F	probably damaging	Het
Asmt	T	C	X: 169,110,230 (GRCm39)		probably null	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
Bnc2	A	G	4: 84,210,213 (GRCm39)	F744L	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Cdk13	T	C	13: 17,941,159 (GRCm39)	K21R	probably damaging	Het
Cenpf	A	C	1: 189,386,847 (GRCm39)	L1811R	probably damaging	Het
Cfap91	C	T	16: 38,155,885 (GRCm39)	V113I	probably benign	Het
Cr2	A	G	1: 194,853,349 (GRCm39)	I43T	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Cylc2	A	T	4: 51,229,840 (GRCm39)	D394V	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dcaf8	T	C	1: 172,007,460 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,957,146 (GRCm39)	I796F	probably damaging	Het
Dnah12	A	T	14: 26,494,971 (GRCm39)	Q1343L	probably damaging	Het
Dnajc21	T	C	15: 10,447,183 (GRCm39)	R522G	probably benign	Het
F2rl3	C	T	8: 73,489,211 (GRCm39)	A146V	probably benign	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Glrb	T	C	3: 80,786,993 (GRCm39)	S57G	probably damaging	Het
Gm5507	T	A	18: 54,117,409 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,385,913 (GRCm39)	K22E	probably damaging	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ift122	T	A	6: 115,867,549 (GRCm39)	L433Q	probably damaging	Het
Il5ra	G	T	6: 106,715,459 (GRCm39)	S125*	probably null	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Lepr	T	A	4: 101,671,838 (GRCm39)	I954N	probably benign	Het
Lims1	T	C	10: 58,254,612 (GRCm39)		probably benign	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Muc15	T	C	2: 110,567,844 (GRCm39)	S330P	probably damaging	Het
Ncapg	T	C	5: 45,828,554 (GRCm39)	F102L	probably damaging	Het
Nkd2	T	C	13: 73,971,475 (GRCm39)	D187G	probably benign	Het
Nphp1	C	T	2: 127,607,939 (GRCm39)		probably null	Het
Or10ag59	T	C	2: 87,405,530 (GRCm39)	F34S	probably benign	Het
Or1e19	T	C	11: 73,316,012 (GRCm39)	N266D	probably benign	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pdhx	A	T	2: 102,903,742 (GRCm39)	L18Q	probably null	Het
Pear1	C	T	3: 87,661,968 (GRCm39)	G469D	probably damaging	Het
Plec	T	C	15: 76,065,757 (GRCm39)	T1506A	probably benign	Het
Plod3	T	A	5: 137,017,801 (GRCm39)	D192E	possibly damaging	Het
Rbks	T	C	5: 31,781,912 (GRCm39)	N296S	probably benign	Het
Sema3c	G	A	5: 17,899,770 (GRCm39)	V421I	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Tmem200c	A	G	17: 69,149,166 (GRCm39)	D583G	probably benign	Het
Trpm6	A	G	19: 18,809,841 (GRCm39)	Y1079C	probably damaging	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Vcp	T	C	4: 42,988,813 (GRCm39)		probably benign	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Wdr11	A	G	7: 129,230,729 (GRCm39)	E878G	probably damaging	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	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
R0409:Il21r	UTSW	7	125,229,012 (GRCm39)	intron	probably benign
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
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'- GCTCCCAAGACATTGATGGTTG -3'
(R):5'- GGACCAGCTTTAGTACCAGG -3'

Sequencing Primer
(F):5'- CCAAGACATTGATGGTTGGTGGTC -3'
(R):5'- CAGGAGTGGGGTGTCCTAC -3'

Posted On

2015-08-18