Mutagenetix > Incidental Mutation

Incidental Mutation 'R7263:Il21r'

564753

Institutional Source

Beutler Lab

Gene Symbol

Il21r

Ensembl Gene

ENSMUSG00000030745

Gene Name

interleukin 21 receptor

Synonyms

NILR

MMRRC Submission

045388-MU

Accession Numbers

Essential gene?

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

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125202601-125232742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125232077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 502 (T502A)

Ref Sequence

ENSEMBL: ENSMUSP00000033000 (fasta)

Gene Model

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

AlphaFold

Q9JHX3

Predicted Effect

probably benign
Transcript: ENSMUST00000033000
AA Change: T502A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033000
Gene: ENSMUSG00000030745
AA Change: T502A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,847,843 (GRCm39)	H55N	probably damaging	Het
Acan	G	T	7: 78,742,066 (GRCm39)	V488L	probably damaging	Het
Adam12	T	C	7: 133,521,240 (GRCm39)	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,220,772 (GRCm39)	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,825,601 (GRCm39)	D1079E	probably benign	Het
Barx1	G	T	13: 48,818,555 (GRCm39)	G93C	probably damaging	Het
Carmil2	C	T	8: 106,419,677 (GRCm39)	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc159	T	C	9: 21,843,007 (GRCm39)	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,202,652 (GRCm39)	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,470,332 (GRCm39)	G15D	probably damaging	Het
Dach1	T	C	14: 98,406,295 (GRCm39)	S151G	probably benign	Het
Elf5	C	A	2: 103,269,645 (GRCm39)	N75K	probably benign	Het
Elp3	T	C	14: 65,802,782 (GRCm39)	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,337,043 (GRCm39)		probably null	Het
Epha6	A	G	16: 59,596,028 (GRCm39)	Y888H	probably damaging	Het
Fibcd1	T	C	2: 31,707,222 (GRCm39)	Y345C	probably damaging	Het
Gjd3	C	T	11: 102,690,963 (GRCm39)	E347K	possibly damaging	Het
Gse1	A	G	8: 121,300,910 (GRCm39)	D892G	unknown	Het
Gtpbp6	A	T	5: 110,251,915 (GRCm39)	I506N	probably benign	Het
Hivep1	T	A	13: 42,311,668 (GRCm39)	F1303I	possibly damaging	Het
Ints1	T	C	5: 139,749,834 (GRCm39)	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381 (GRCm39)	N351K	probably damaging	Het
Iqcm	A	G	8: 76,489,701 (GRCm39)	T390A	probably benign	Het
Iqcn	A	G	8: 71,163,425 (GRCm39)	N873D	possibly damaging	Het
Kcnh4	C	T	11: 100,632,643 (GRCm39)	G948D	probably benign	Het
Kcnh7	T	A	2: 62,566,314 (GRCm39)		probably null	Het
Lrrc72	A	G	12: 36,258,611 (GRCm39)	V82A	probably damaging	Het
Macf1	A	T	4: 123,271,943 (GRCm39)	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,109,196 (GRCm39)	L585V		Het
Nipal2	G	C	15: 34,578,904 (GRCm39)	Y298*	probably null	Het
Nipsnap1	C	T	11: 4,832,960 (GRCm39)		probably benign	Het
Or12e1	T	A	2: 87,022,476 (GRCm39)	C148*	probably null	Het
Or4x12-ps1	T	C	2: 89,916,332 (GRCm39)	I158V	not run	Het
Or51g1	A	T	7: 102,633,524 (GRCm39)	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,819,873 (GRCm39)	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821 (GRCm39)	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,017,940 (GRCm39)	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,822,358 (GRCm39)	I236T	probably benign	Het
Pygm	G	A	19: 6,438,357 (GRCm39)	R278H	probably damaging	Het
Rb1	A	T	14: 73,520,363 (GRCm39)	C215*	probably null	Het
Rgs22	A	G	15: 36,015,789 (GRCm39)	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,284,126 (GRCm39)	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,667 (GRCm39)	Y130*	probably null	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Serpinb6e	A	T	13: 34,022,923 (GRCm39)	F153L	probably benign	Het
Slc22a1	A	T	17: 12,885,587 (GRCm39)	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,113,107 (GRCm39)	M377I	probably benign	Het
Slc36a4	A	G	9: 15,633,452 (GRCm39)		probably null	Het
Slc39a6	A	G	18: 24,734,260 (GRCm39)	V143A	probably benign	Het
Slf2	G	A	19: 44,926,863 (GRCm39)		probably null	Het
Sowaha	T	C	11: 53,370,485 (GRCm39)	K84E	probably benign	Het
Spef2	T	G	15: 9,653,098 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,399 (GRCm39)	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,870,539 (GRCm39)	I189T	possibly damaging	Het
Tescl	T	C	7: 24,033,247 (GRCm39)	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,854,150 (GRCm39)	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200 (GRCm39)	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,175,526 (GRCm39)	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,949,000 (GRCm39)	A446P	probably damaging	Het
Usp7	A	T	16: 8,514,588 (GRCm39)	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,535 (GRCm39)	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,225,077 (GRCm39)	K478E	probably damaging	Het
Zfp112	C	A	7: 23,824,952 (GRCm39)	L311I	probably benign	Het
Zfp180	G	T	7: 23,805,125 (GRCm39)	E515*	probably null	Het
Zfp518b	A	G	5: 38,829,671 (GRCm39)	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,662 (GRCm39)	H434Q	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
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
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
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'- GGACAGGTTGAGGCTGTCATT -3'
(R):5'- GGCATTGCTCACAAATGGAT -3'

Sequencing Primer
(F):5'- GAGGCTGTCATTTGCAAAGG -3'
(R):5'- TGAGAATTCACTCGTAGGCC -3'

Posted On

2019-06-26