Mutagenetix > Incidental Mutation

Incidental Mutation 'R8976:Il2rb'

683459

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

068810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78363456-78379471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78370681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 145 (D145N)

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: D145N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086820
Gene: ENSMUSG00000068227
AA Change: D145N

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: D145N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127006
Gene: ENSMUSG00000068227
AA Change: D145N

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

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	A	G	3: 87,635,321 (GRCm39)	I906V	probably benign	Het
Atad2b	T	A	12: 4,967,923 (GRCm39)		probably null	Het
Atr	T	A	9: 95,772,819 (GRCm39)	D1243E	probably benign	Het
Baiap2l1	A	T	5: 144,223,117 (GRCm39)	H73Q	probably benign	Het
Bdp1	C	A	13: 100,197,407 (GRCm39)	G993*	probably null	Het
Cacna2d4	A	T	6: 119,315,118 (GRCm39)	I883F	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Crem	A	G	18: 3,268,088 (GRCm39)	V80A	possibly damaging	Het
Cyp2j9	T	C	4: 96,479,399 (GRCm39)	K62E	probably benign	Het
Dnah17	T	A	11: 117,917,666 (GRCm39)	I4132F	probably damaging	Het
Dnm3	G	A	1: 162,135,505 (GRCm39)	P423S	probably damaging	Het
Dop1b	G	T	16: 93,558,969 (GRCm39)	V572L	probably benign	Het
F12	T	A	13: 55,569,777 (GRCm39)		probably benign	Het
F2	A	G	2: 91,466,738 (GRCm39)	S2P	probably benign	Het
Fam171a2	T	C	11: 102,329,451 (GRCm39)	E436G	possibly damaging	Het
Fat1	T	C	8: 45,484,332 (GRCm39)	V3190A	probably benign	Het
Flnb	A	T	14: 7,901,882 (GRCm38)		probably null	Het
Frs3	A	T	17: 48,009,546 (GRCm39)	D9V	probably benign	Het
Galnt17	T	G	5: 130,935,543 (GRCm39)	E380A	probably benign	Het
Glrb	A	C	3: 80,758,363 (GRCm39)	V350G	probably damaging	Het
Helz2	T	A	2: 180,876,486 (GRCm39)	K1336M	possibly damaging	Het
Ifnlr1	T	A	4: 135,428,650 (GRCm39)	V159E	probably damaging	Het
Igf2r	T	C	17: 12,945,659 (GRCm39)	E310G	probably damaging	Het
Iqcb1	A	G	16: 36,692,005 (GRCm39)	I535V	probably benign	Het
Keap1	A	C	9: 21,142,663 (GRCm39)	L531V	probably damaging	Het
Lrrc8d	T	A	5: 105,960,957 (GRCm39)	W456R	probably damaging	Het
Med12l	T	A	3: 59,183,329 (GRCm39)	H1910Q	probably damaging	Het
Mybphl	G	A	3: 108,272,334 (GRCm39)	E8K	probably damaging	Het
Odad3	T	A	9: 21,903,334 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,363 (GRCm39)	S26G	probably benign	Het
Or10a4	T	C	7: 106,697,466 (GRCm39)	S265P	possibly damaging	Het
Or5p73	T	A	7: 108,064,630 (GRCm39)	I33N	possibly damaging	Het
Or6f2	T	C	7: 139,756,885 (GRCm39)	V284A	probably damaging	Het
Or7a38	T	C	10: 78,753,418 (GRCm39)	I248T	possibly damaging	Het
Or7g22	T	A	9: 19,049,141 (GRCm39)	M284K	probably damaging	Het
Pcdhb22	G	A	18: 37,651,396 (GRCm39)		probably benign	Het
Plekha8	A	T	6: 54,607,521 (GRCm39)	E376V	probably damaging	Het
Polr2a	A	G	11: 69,638,037 (GRCm39)	V144A	possibly damaging	Het
Pramel34	T	A	5: 93,785,977 (GRCm39)	N101I	probably damaging	Het
Prr18	T	C	17: 8,560,047 (GRCm39)	S68P	probably damaging	Het
Ptprk	G	A	10: 28,461,669 (GRCm39)	R1153H	probably damaging	Het
Pus1	A	G	5: 110,922,789 (GRCm39)	F293L	possibly damaging	Het
Shank3	A	G	15: 89,442,381 (GRCm39)	E1758G	probably damaging	Het
Ska3	A	T	14: 58,057,851 (GRCm39)	I167N	probably damaging	Het
Ski	A	G	4: 155,242,411 (GRCm39)	S663P	probably damaging	Het
Slc49a3	A	C	5: 108,589,897 (GRCm39)	S502A	probably benign	Het
Spa17	C	T	9: 37,523,254 (GRCm39)	R11Q	possibly damaging	Het
Spag5	T	C	11: 78,195,413 (GRCm39)	V240A	probably benign	Het
Srl	A	T	16: 4,300,894 (GRCm39)	Y726N	probably damaging	Het
Ssbp4	A	T	8: 71,052,336 (GRCm39)		probably null	Het
Surf1	A	T	2: 26,805,767 (GRCm39)	C48S	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem176b	A	G	6: 48,812,600 (GRCm39)	S122P	probably damaging	Het
Trim23	G	T	13: 104,328,545 (GRCm39)	L355F	probably damaging	Het
Ttn	G	A	2: 76,545,110 (GRCm39)	T32664M	probably damaging	Het
Ulk3	T	A	9: 57,502,220 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,511,169 (GRCm39)	H59R	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,719 (GRCm39)	I91V	probably benign	Het
Vmn2r10	T	A	5: 109,145,479 (GRCm39)	N543Y	probably damaging	Het
Zbtb14	G	A	17: 69,694,752 (GRCm39)	R150H	possibly damaging	Het
Zfp831	T	C	2: 174,487,079 (GRCm39)	Y585H	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
R8854:Il2rb	UTSW	15	78,369,953 (GRCm39)	missense	probably benign
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'- AGGCTGAATCAGTGTCACACC -3'
(R):5'- CAGCTGTTGCAGAGGAGGG -3'

Sequencing Primer
(F):5'- TCAGTGTCACACCAGCATGTAG -3'
(R):5'- TGCAGAAGAATGATAGCAGGTGC -3'

Posted On

2021-10-11