Mutagenetix > Incidental Mutation

Incidental Mutation 'R8854:Il2rb'

675197

Institutional Source

Beutler Lab

Gene Symbol

Il2rb

Ensembl Gene

ENSMUSG00000068227

Gene Name

interleukin 2 receptor, beta chain

Synonyms

IL-15Rbeta, IL-15 receptor beta chain, IL-2/15Rbeta, IL15Rbeta, Il-2Rbeta, CD122

MMRRC Submission

068676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78363456-78379471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78369953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000086820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089398] [ENSMUST00000163494]

AlphaFold

P16297

Predicted Effect

probably benign
Transcript: ENSMUST00000089398
AA Change: T229A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086820
Gene: ENSMUSG00000068227
AA Change: T229A

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
FN3	133	219	9.48e-3	SMART
transmembrane domain	246	268	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163494
AA Change: T229A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127006
Gene: ENSMUSG00000068227
AA Change: T229A

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
FN3	133	219	9.48e-3	SMART
transmembrane domain	246	268	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: The interleukin 2 receptor is composed of alpha and beta subunits. The beta subunit encoded by this gene is very homologous to the human beta subunit and also shows structural similarity to other cytokine receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous activation of T cells and differentiation of B cells, elevated immunoglobulins including autoantibodies causing hemolytic anemia, granulocytopoiesis, and death after 3 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	G	A	19: 20,588,297 (GRCm39)	W29*	probably null	Het
Ankib1	C	A	5: 3,777,489 (GRCm39)	W467L	probably null	Het
Arhgef10	A	G	8: 15,029,798 (GRCm39)		probably null	Het
Arpc1b	C	A	5: 145,060,405 (GRCm39)	R66S	probably benign	Het
Atoh1	A	T	6: 64,706,189 (GRCm39)		probably benign	Het
Bach2	T	A	4: 32,575,263 (GRCm39)	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,490,060 (GRCm39)	I277T	probably damaging	Het
Cadps2	G	A	6: 23,385,507 (GRCm39)	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,905,480 (GRCm39)	D171V	probably damaging	Het
Cfap20dc	A	T	14: 8,518,638 (GRCm38)	S273T	probably damaging	Het
Clca3a2	C	T	3: 144,783,852 (GRCm39)	A588T	possibly damaging	Het
Cps1	A	G	1: 67,200,048 (GRCm39)	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,406,327 (GRCm39)	S98P	probably benign	Het
Cryzl2	A	G	1: 157,286,370 (GRCm39)	K36R	possibly damaging	Het
Cxcl13	T	C	5: 96,104,861 (GRCm39)	L11P	unknown	Het
Dbf4	T	A	5: 8,458,562 (GRCm39)	D151V	probably damaging	Het
Eogt	A	T	6: 97,108,359 (GRCm39)	C227*	probably null	Het
Fermt3	T	A	19: 6,991,310 (GRCm39)	D231V	probably damaging	Het
Ildr1	T	A	16: 36,535,910 (GRCm39)	Y142N	probably damaging	Het
Kcnv2	A	T	19: 27,311,258 (GRCm39)	T542S	probably benign	Het
Kif26b	G	A	1: 178,743,948 (GRCm39)	G1348E	possibly damaging	Het
Lancl1	C	T	1: 67,073,358 (GRCm39)	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,378,968 (GRCm39)	D4010V	probably damaging	Het
Mark2	A	G	19: 7,258,369 (GRCm39)	V640A	probably benign	Het
Megf6	C	T	4: 154,352,469 (GRCm39)	T1276M	probably damaging	Het
Meioc	T	C	11: 102,566,589 (GRCm39)	M735T	probably damaging	Het
Mfsd4b5	C	A	10: 39,846,735 (GRCm39)	V282L	probably damaging	Het
Mlx	T	A	11: 100,981,951 (GRCm39)	V286E		Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Muc1	C	T	3: 89,139,412 (GRCm39)	P604L	probably damaging	Het
Net1	G	T	13: 3,934,214 (GRCm39)	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769 (GRCm38)	S342P	probably damaging	Het
Niban1	A	G	1: 151,584,950 (GRCm39)	K516E	probably damaging	Het
Nipbl	A	T	15: 8,330,210 (GRCm39)	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,580,206 (GRCm39)	C245S	probably benign	Het
Or52ab7	T	C	7: 102,978,023 (GRCm39)	I110T	probably damaging	Het
Or5p76	T	A	7: 108,122,936 (GRCm39)	I74L	probably benign	Het
Pcare	T	C	17: 72,056,326 (GRCm39)	Y1117C	probably benign	Het
Pcdhgb5	C	T	18: 37,865,501 (GRCm39)	T432I	probably benign	Het
Plpp4	T	A	7: 128,909,362 (GRCm39)	L24*	probably null	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Sass6	C	A	3: 116,399,384 (GRCm39)	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,308 (GRCm39)	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,363,754 (GRCm39)		probably null	Het
Snd1	A	G	6: 28,526,968 (GRCm39)	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,183,804 (GRCm39)	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,707,630 (GRCm39)	V889A	probably damaging	Het
Suclg2	A	T	6: 95,572,650 (GRCm39)	V105D	probably damaging	Het
Syne1	A	T	10: 5,078,503 (GRCm39)	M974K	probably benign	Het
Tbrg4	A	T	11: 6,566,691 (GRCm39)	D605E	probably benign	Het
Tcn2	A	G	11: 3,876,074 (GRCm39)	F118S	possibly damaging	Het
Tcstv2b	T	A	13: 120,377,825 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,367,238 (GRCm39)	H208R	probably benign	Het
Trf	A	G	9: 103,107,529 (GRCm39)		probably benign	Het
Trpc4	A	T	3: 54,102,122 (GRCm39)	K7*	probably null	Het
Uap1	G	T	1: 169,976,984 (GRCm39)	P405Q	probably damaging	Het
Usp33	C	A	3: 152,073,967 (GRCm39)	T271N	probably benign	Het
Usp42	T	C	5: 143,702,632 (GRCm39)	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 109,144,126 (GRCm39)	D608G	probably benign	Het
Wfdc16	G	A	2: 164,480,486 (GRCm39)	P3L	probably benign	Het
Zfp28	T	C	7: 6,397,938 (GRCm39)	I791T	probably benign	Het
Zfp970	A	T	2: 177,165,088 (GRCm39)	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501 (GRCm39)	H421Q	possibly damaging	Het

Other mutations in Il2rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Il2rb	APN	15	78,365,897 (GRCm39)	missense	probably benign	0.00
Bonnerhall	UTSW	15	78,369,204 (GRCm39)	missense	probably benign
diptera	UTSW	15	78,370,006 (GRCm39)	missense	probably damaging	1.00
flybase	UTSW	15	78,376,048 (GRCm39)	start codon destroyed	probably null	0.66
Halfmeasure	UTSW	15	78,370,681 (GRCm39)	missense	probably benign	0.04
Moonpie	UTSW	15	78,366,034 (GRCm39)	frame shift	probably null
tetragonal	UTSW	15	78,369,953 (GRCm39)	missense	probably benign
Whistles	UTSW	15	78,366,136 (GRCm39)	missense	possibly damaging	0.72
R0581:Il2rb	UTSW	15	78,366,136 (GRCm39)	missense	possibly damaging	0.72
R1795:Il2rb	UTSW	15	78,368,187 (GRCm39)	missense	probably damaging	1.00
R1932:Il2rb	UTSW	15	78,375,977 (GRCm39)	missense	possibly damaging	0.93
R2924:Il2rb	UTSW	15	78,376,049 (GRCm39)	start codon destroyed	probably null	0.27
R4706:Il2rb	UTSW	15	78,370,600 (GRCm39)	missense	possibly damaging	0.81
R5713:Il2rb	UTSW	15	78,376,048 (GRCm39)	start codon destroyed	probably null	0.66
R5953:Il2rb	UTSW	15	78,369,182 (GRCm39)	nonsense	probably null
R6018:Il2rb	UTSW	15	78,366,266 (GRCm39)	missense	possibly damaging	0.54
R6279:Il2rb	UTSW	15	78,365,738 (GRCm39)	missense	possibly damaging	0.72
R6666:Il2rb	UTSW	15	78,366,034 (GRCm39)	frame shift	probably null
R6961:Il2rb	UTSW	15	78,370,024 (GRCm39)	missense	probably damaging	1.00
R8020:Il2rb	UTSW	15	78,369,204 (GRCm39)	missense	probably benign
R8477:Il2rb	UTSW	15	78,370,006 (GRCm39)	missense	probably damaging	1.00
R8976:Il2rb	UTSW	15	78,370,681 (GRCm39)	missense	probably benign	0.04
R8979:Il2rb	UTSW	15	78,376,052 (GRCm39)	start gained	probably benign
R9509:Il2rb	UTSW	15	78,374,416 (GRCm39)	missense	probably damaging	0.97
R9541:Il2rb	UTSW	15	78,372,393 (GRCm39)	missense	probably benign	0.00
R9745:Il2rb	UTSW	15	78,372,399 (GRCm39)	missense	probably benign	0.00
X0018:Il2rb	UTSW	15	78,369,965 (GRCm39)	missense	probably damaging	1.00
X0066:Il2rb	UTSW	15	78,369,156 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTGATGTCTTGAGCATCCCTG -3'
(R):5'- GAAGAGGCTGTTTGCTTAGC -3'

Sequencing Primer
(F):5'- GAGCATCCCTGTCTCTGGTAAG -3'
(R):5'- CTCTTGACCTCGTTGCGGGAG -3'

Posted On

2021-07-15