Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Il2rb'

202176

Institutional Source

Beutler Lab

Gene Symbol

Il2rb

Ensembl Gene

ENSMUSG00000068227

Gene Name

interleukin 2 receptor, beta chain

Synonyms

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

MMRRC Submission

039825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78479256-78495271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78483987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 287 (D287E)

Ref Sequence

ENSEMBL: ENSMUSP00000127006 (fasta)

Gene Model

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

AlphaFold

P16297

Predicted Effect

probably damaging
Transcript: ENSMUST00000089398
AA Change: D287E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086820
Gene: ENSMUSG00000068227
AA Change: D287E

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 damaging
Transcript: ENSMUST00000163494
AA Change: D287E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127006
Gene: ENSMUSG00000068227
AA Change: D287E

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: 96.9%
10x: 95.4%
20x: 92.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,682,989	G1037*	probably null	Het
Abca8a	A	G	11: 110,050,966	I1159T	probably benign	Het
Abcc1	T	C	16: 14,465,137	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,673,579	I194T	probably damaging	Het
Abtb2	A	G	2: 103,567,024	T100A	probably benign	Het
Adam4	C	T	12: 81,421,294	M184I	probably benign	Het
Afap1l2	T	C	19: 56,928,409	D155G	probably damaging	Het
Ahnak	T	C	19: 9,002,438	V362A	possibly damaging	Het
Ak7	C	T	12: 105,726,223	R179*	probably null	Het
Akap8	C	A	17: 32,315,477	G332C	probably damaging	Het
Akr1e1	T	A	13: 4,595,072	Q204L	probably damaging	Het
Ankrd12	T	C	17: 65,986,227	E737G	possibly damaging	Het
Atrn	A	G	2: 130,972,288	D718G	probably benign	Het
Bco2	A	G	9: 50,541,169	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,725,786	S28T	unknown	Het
Cdc14a	T	A	3: 116,298,473	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,908,828	L387P	probably damaging	Het
Celsr1	A	T	15: 86,030,323	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841		probably null	Het
Cramp1l	T	C	17: 24,964,910	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,857,920	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,517,969	I92F	probably benign	Het
Dhx30	A	T	9: 110,107,983		probably null	Het
Dlg1	T	A	16: 31,743,147	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,706,699	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,683,639	E741K	possibly damaging	Het
Dock3	T	G	9: 107,025,335	H292P	probably damaging	Het
Elmsan1	A	G	12: 84,158,974		probably null	Het
Ercc6	T	A	14: 32,517,028	N24K	probably benign	Het
Esco2	T	C	14: 65,827,277	Q338R	probably benign	Het
Etl4	T	C	2: 20,808,026		probably null	Het
Exoc7	A	T	11: 116,292,521	I498N	probably damaging	Het
Fap	G	A	2: 62,548,589	S123L	probably damaging	Het
Foxn1	T	C	11: 78,371,225	E106G	probably benign	Het
Fscb	T	A	12: 64,474,401	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,782,253	T174A	possibly damaging	Het
Gan	C	T	8: 117,196,460	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,630,523	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,956,841	Y47N	unknown	Het
Gm17333	G	T	16: 77,852,823		noncoding transcript	Het
Gm1758	T	A	16: 14,502,278		noncoding transcript	Het
Golga3	A	G	5: 110,207,627	K989R	possibly damaging	Het
Gucy2g	C	A	19: 55,199,541	V1041F	probably damaging	Het
Guk1	A	T	11: 59,186,813	F25I	probably benign	Het
H2al1o	C	T	X: 9,572,090	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958	C426F	probably damaging	Het
Hps3	A	G	3: 20,012,695		probably null	Het
Ino80	A	T	2: 119,406,859	V1123D	probably damaging	Het
Kdm2b	A	G	5: 122,984,460		probably null	Het
Kif21a	A	T	15: 90,972,727		probably null	Het
Klhl33	A	T	14: 50,892,126	N347K	probably damaging	Het
Krt2	A	G	15: 101,816,426	F250L	possibly damaging	Het
Krt82	T	A	15: 101,543,384	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,306,183	I444V	probably benign	Het
Lmod1	G	A	1: 135,325,124	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mex3d	T	C	10: 80,381,542	T149A	probably benign	Het
Mlxipl	A	C	5: 135,107,170	D83A	probably damaging	Het
Mroh8	T	A	2: 157,269,551	E161V	probably benign	Het
Mroh9	G	A	1: 163,056,778	T397I	probably damaging	Het
Mtss1	T	C	15: 59,058,400	D32G	possibly damaging	Het
Mus81	T	C	19: 5,483,476	D495G	probably benign	Het
Neurod1	A	C	2: 79,454,329	S237A	probably benign	Het
Npas1	G	A	7: 16,474,800	R51C	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,115,853	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,624,255	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,449,535	M565L	probably benign	Het
Pde6a	A	G	18: 61,257,212	E502G	probably damaging	Het
Pde8b	A	G	13: 95,042,019	V566A	probably benign	Het
Phf11b	G	T	14: 59,328,105	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,252,557	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,956,013		probably benign	Het
Plxna2	G	A	1: 194,806,303	G1629D	probably damaging	Het
Plxnb1	T	C	9: 109,100,745	V223A	probably benign	Het
Prkca	A	T	11: 108,012,692	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,808,571	N226I	probably damaging	Het
Pus7	A	C	5: 23,741,916	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264	Q666*	probably null	Het
Sema3d	A	G	5: 12,584,887	D640G	probably benign	Het
Slc6a15	A	G	10: 103,400,260	I279V	probably benign	Het
Slk	T	C	19: 47,620,534	V642A	possibly damaging	Het
Spta1	T	A	1: 174,245,730	M2305K	probably damaging	Het
Srrt	T	C	5: 137,303,012		probably benign	Het
Stfa2l1	A	T	16: 36,156,858	I8L	probably benign	Het
Tap1	T	C	17: 34,194,925	L638P	probably benign	Het
Tbccd1	A	T	16: 22,822,245	L461M	probably benign	Het
Tecta	T	C	9: 42,378,049	T407A	probably benign	Het
Tmbim7	T	C	5: 3,657,493		probably null	Het
Tnrc18	C	A	5: 142,815,114	V30L	probably benign	Het
Tomm7	A	G	5: 23,844,027	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,474,456	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,102,154	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,611,325		probably benign	Het
Vmn2r120	A	T	17: 57,525,038	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,803,106	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,066,440	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,893,985	Y582*	probably null	Het
Zfp518a	T	A	19: 40,915,556	F1310I	probably benign	Het
Zswim1	A	G	2: 164,825,400	I191V	probably benign	Het

Other mutations in Il2rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Il2rb	APN	15	78481697	missense	probably benign	0.00
Bonnerhall	UTSW	15	78485004	missense	probably benign
diptera	UTSW	15	78485806	missense	probably damaging	1.00
flybase	UTSW	15	78491848	start codon destroyed	probably null	0.66
Halfmeasure	UTSW	15	78486481	missense	probably benign	0.04
Moonpie	UTSW	15	78481834	frame shift	probably null
tetragonal	UTSW	15	78485753	missense	probably benign
Whistles	UTSW	15	78481936	missense	possibly damaging	0.72
R0581:Il2rb	UTSW	15	78481936	missense	possibly damaging	0.72
R1932:Il2rb	UTSW	15	78491777	missense	possibly damaging	0.93
R2924:Il2rb	UTSW	15	78491849	start codon destroyed	probably null	0.27
R4706:Il2rb	UTSW	15	78486400	missense	possibly damaging	0.81
R5713:Il2rb	UTSW	15	78491848	start codon destroyed	probably null	0.66
R5953:Il2rb	UTSW	15	78484982	nonsense	probably null
R6018:Il2rb	UTSW	15	78482066	missense	possibly damaging	0.54
R6279:Il2rb	UTSW	15	78481538	missense	possibly damaging	0.72
R6666:Il2rb	UTSW	15	78481834	frame shift	probably null
R6961:Il2rb	UTSW	15	78485824	missense	probably damaging	1.00
R8020:Il2rb	UTSW	15	78485004	missense	probably benign
R8477:Il2rb	UTSW	15	78485806	missense	probably damaging	1.00
R8854:Il2rb	UTSW	15	78485753	missense	probably benign
R8976:Il2rb	UTSW	15	78486481	missense	probably benign	0.04
R8979:Il2rb	UTSW	15	78491852	start gained	probably benign
R9509:Il2rb	UTSW	15	78490216	missense	probably damaging	0.97
R9541:Il2rb	UTSW	15	78488193	missense	probably benign	0.00
R9745:Il2rb	UTSW	15	78488199	missense	probably benign	0.00
X0018:Il2rb	UTSW	15	78485765	missense	probably damaging	1.00
X0066:Il2rb	UTSW	15	78484956	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATCCTGTAGCCTCCTCACAG -3'
(R):5'- CACAGACTGGGCAATCCTATTAC -3'

Sequencing Primer
(F):5'- TGTAGCCTCCTCACAGAAGGC -3'
(R):5'- ATGTCAGCATGTCAGCTCCG -3'

Posted On

2014-06-23