Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Il2rb'

215506

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

039950-MU

Accession Numbers

Essential gene?

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

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78363456-78379471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78375977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 25 (S25T)

Ref Sequence

ENSEMBL: ENSMUSP00000127006 (fasta)

Gene Model

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

AlphaFold

P16297

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089398
AA Change: S25T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086820
Gene: ENSMUSG00000068227
AA Change: S25T

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

possibly damaging
Transcript: ENSMUST00000163494
AA Change: S25T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127006
Gene: ENSMUSG00000068227
AA Change: S25T

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,691 (GRCm39)	Q278H	probably benign	Het
Ace3	T	C	11: 105,895,436 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm39)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamts8	A	G	9: 30,867,808 (GRCm39)	D544G	probably benign	Het
Angptl4	C	A	17: 34,000,249 (GRCm39)	E40*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,059,567 (GRCm39)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 91,031,806 (GRCm39)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,555,459 (GRCm39)	K217*	probably null	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Blvra	T	A	2: 126,937,068 (GRCm39)	W174R	probably damaging	Het
Catsperg1	C	T	7: 28,897,568 (GRCm39)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,096,549 (GRCm39)	A400D	probably damaging	Het
Chd2	G	T	7: 73,104,193 (GRCm39)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,840,651 (GRCm39)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,741,989 (GRCm39)	P503S	unknown	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm39)	G47R	probably benign	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Cts8	T	A	13: 61,401,429 (GRCm39)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,468,474 (GRCm39)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,415,109 (GRCm39)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,816,865 (GRCm39)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,652,661 (GRCm39)	D573G	probably damaging	Het
Drd5	A	G	5: 38,477,319 (GRCm39)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,768,215 (GRCm39)	P102L	probably damaging	Het
Efhc1	A	G	1: 21,037,624 (GRCm39)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,278,967 (GRCm39)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,278,475 (GRCm39)	I7N	probably damaging	Het
Gmds	A	G	13: 32,311,980 (GRCm39)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,053,455 (GRCm39)	T169A	possibly damaging	Het
Grb14	A	G	2: 64,743,146 (GRCm39)	F508L	probably damaging	Het
Hdac5	T	A	11: 102,086,698 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,450,066 (GRCm39)	M620K	probably damaging	Het
Herc3	A	G	6: 58,853,778 (GRCm39)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,210,867 (GRCm39)	Y156H	probably damaging	Het
Ifi205	T	A	1: 173,855,980 (GRCm39)	I17F	possibly damaging	Het
Kansl1	T	C	11: 104,225,923 (GRCm39)	T998A	probably damaging	Het
Kcna6	G	T	6: 126,715,451 (GRCm39)	H479Q	probably benign	Het
Kif2a	T	C	13: 107,114,599 (GRCm39)	K350R	probably benign	Het
Lct	G	T	1: 128,221,898 (GRCm39)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,769,747 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,327,700 (GRCm39)	W1516*	probably null	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,620,029 (GRCm39)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,345,830 (GRCm39)	I1326T	probably damaging	Het
Manba	T	C	3: 135,250,501 (GRCm39)	F376S	probably benign	Het
Mink1	T	C	11: 70,499,254 (GRCm39)		probably null	Het
Nfatc2ip	C	T	7: 125,984,164 (GRCm39)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,072,964 (GRCm39)	I293N	probably damaging	Het
Or10aa3	T	C	1: 173,878,244 (GRCm39)	Y102H	probably damaging	Het
Otol1	A	C	3: 69,935,437 (GRCm39)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,442,594 (GRCm39)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,828,237 (GRCm39)	F91I	probably damaging	Het
Polq	G	A	16: 36,882,666 (GRCm39)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,059,363 (GRCm39)		probably benign	Het
Prkca	T	G	11: 108,082,975 (GRCm39)	D90A	probably benign	Het
Sall3	T	C	18: 81,012,968 (GRCm39)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,506,446 (GRCm39)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,271,929 (GRCm39)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,501,806 (GRCm39)		probably null	Het
Sgpp1	G	T	12: 75,762,953 (GRCm39)	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264 (GRCm39)	V638A	probably benign	Het
Snhg11	T	C	2: 158,218,746 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,389 (GRCm39)	Q800R	probably benign	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Swap70	C	T	7: 109,878,470 (GRCm39)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,023,750 (GRCm39)	V422A	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet3	T	C	6: 83,381,361 (GRCm39)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,366,045 (GRCm39)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,010 (GRCm39)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,504,956 (GRCm39)	Q145*	probably null	Het
Tnc	A	T	4: 63,911,262 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,508,797 (GRCm39)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,297,414 (GRCm39)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,776,992 (GRCm39)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,783,820 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,853,653 (GRCm39)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,261,031 (GRCm39)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,370,981 (GRCm39)	R688S	probably benign	Het
Wdr74	G	T	19: 8,715,311 (GRCm39)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,371,530 (GRCm39)	D144V	probably benign	Het
Zfp106	C	T	2: 120,362,162 (GRCm39)	A986T	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
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
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'- CAAGCTCAGGAAGATGGATACC -3'
(R):5'- TCTGACATTTTAGGCACCTCTGG -3'

Sequencing Primer
(F):5'- AAGATGGATACCTGCCCTTGG -3'
(R):5'- AGAGCCTGGGCCTGCTTTG -3'

Posted On

2014-07-14