Mutagenetix > Incidental Mutations

Incidental Mutation 'R0105:Il15ra'

33235

Institutional Source

Beutler Lab

Gene Symbol

Il15ra

Ensembl Gene

ENSMUSG00000023206

Gene Name

interleukin 15 receptor, alpha chain

Synonyms

MMRRC Submission

038391-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0105 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

11705290-11734317 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 11730648 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078834] [ENSMUST00000078834] [ENSMUST00000114831] [ENSMUST00000114831] [ENSMUST00000114832] [ENSMUST00000114832] [ENSMUST00000114833] [ENSMUST00000114833] [ENSMUST00000114834] [ENSMUST00000114834] [ENSMUST00000123600] [ENSMUST00000123600] [ENSMUST00000128156] [ENSMUST00000135341] [ENSMUST00000135341] [ENSMUST00000138349] [ENSMUST00000148748] [ENSMUST00000148748]

Predicted Effect

probably null
Transcript: ENSMUST00000078834

SMART Domains

Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
low complexity region	107	117	N/A	INTRINSIC
low complexity region	118	135	N/A	INTRINSIC
low complexity region	154	172	N/A	INTRINSIC
transmembrane domain	206	228	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000078834

SMART Domains

Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
low complexity region	107	117	N/A	INTRINSIC
low complexity region	118	135	N/A	INTRINSIC
low complexity region	154	172	N/A	INTRINSIC
transmembrane domain	206	228	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091456

Predicted Effect

probably null
Transcript: ENSMUST00000114831

SMART Domains

Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
low complexity region	107	117	N/A	INTRINSIC
transmembrane domain	173	195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114831

SMART Domains

Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
low complexity region	107	117	N/A	INTRINSIC
transmembrane domain	173	195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114832

SMART Domains

Protein: ENSMUSP00000110481
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
transmembrane domain	98	120	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114832

SMART Domains

Protein: ENSMUSP00000110481
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
transmembrane domain	98	120	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114833

SMART Domains

Protein: ENSMUSP00000110482
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
transmembrane domain	109	131	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114833

SMART Domains

Protein: ENSMUSP00000110482
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
transmembrane domain	109	131	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114834

SMART Domains

Protein: ENSMUSP00000110483
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
low complexity region	107	117	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114834

SMART Domains

Protein: ENSMUSP00000110483
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
CCP	36	96	3.87e-8	SMART
low complexity region	107	117	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123600

SMART Domains

Protein: ENSMUSP00000130792
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123600

SMART Domains

Protein: ENSMUSP00000130792
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126394

SMART Domains

Protein: ENSMUSP00000131640
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128156

SMART Domains

Protein: ENSMUSP00000126364
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135341

SMART Domains

Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135341

SMART Domains

Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000138349

SMART Domains

Protein: ENSMUSP00000131473
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148748

SMART Domains

Protein: ENSMUSP00000132058
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148748

SMART Domains

Protein: ENSMUSP00000132058
Gene: ENSMUSG00000023206

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191662

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mutation of this gene results in absence of NK cell production in spleen and bone marrow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,187,392	V698D	probably benign	Het
5530400C23Rik	G	A	6: 133,294,314	R107K	probably benign	Het
A530053G22Rik	T	C	6: 60,402,152		noncoding transcript	Het
Adcy9	A	G	16: 4,288,388	V954A	probably damaging	Het
Aldh8a1	T	A	10: 21,395,539	M388K	probably damaging	Het
Ankhd1	A	G	18: 36,646,766	I1720M	probably damaging	Het
Atp6v0a4	T	C	6: 38,053,129		probably benign	Het
C1qtnf4	T	A	2: 90,890,363	*327R	probably null	Het
C1s1	T	C	6: 124,541,318		probably benign	Het
Cdsn	A	C	17: 35,556,138	R521S	possibly damaging	Het
Cgnl1	T	C	9: 71,656,102	M848V	probably benign	Het
Cog3	A	G	14: 75,722,140	S591P	probably damaging	Het
Col6a3	A	G	1: 90,798,161	V1375A	possibly damaging	Het
Cr1l	A	G	1: 195,112,412		probably benign	Het
Crmp1	T	A	5: 37,284,135	D520E	probably damaging	Het
Ctdspl2	T	A	2: 121,977,320		probably benign	Het
Dnah6	C	T	6: 73,155,279	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,602,054	S1030P	probably benign	Het
Elavl3	C	A	9: 22,036,833	V12F	possibly damaging	Het
Fam20b	T	C	1: 156,690,570	E218G	probably damaging	Het
Fam227a	T	C	15: 79,620,832	D466G	possibly damaging	Het
Fto	G	A	8: 91,522,802	E421K	probably damaging	Het
Gab2	T	C	7: 97,299,072	Y290H	probably damaging	Het
Gm973	A	G	1: 59,582,474	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,828,177	T249A	probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,442,574		probably benign	Het
Il6ra	A	G	3: 89,876,818	I382T	probably damaging	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Krt76	T	C	15: 101,884,912	T564A	unknown	Het
Lhpp	T	C	7: 132,630,525	S57P	probably damaging	Het
Lrrk1	G	T	7: 66,292,341	D716E	probably damaging	Het
Mcm3ap	T	A	10: 76,499,534	D1263E	probably damaging	Het
Mogat1	A	G	1: 78,523,670	T124A	probably benign	Het
Mroh7	T	C	4: 106,711,270	T48A	possibly damaging	Het
Nccrp1	T	C	7: 28,547,038	D33G	probably benign	Het
Neurog1	G	T	13: 56,251,237	D232E	probably benign	Het
Olfr1202	T	A	2: 88,817,909	V246D	probably damaging	Het
Olfr1243	T	C	2: 89,528,363	T16A	probably benign	Het
Otog	C	A	7: 46,288,366	T1833K	possibly damaging	Het
Perm1	C	A	4: 156,218,225	H409N	probably benign	Het
Pik3r5	A	T	11: 68,490,511	E174D	probably damaging	Het
Pkhd1	G	A	1: 20,523,732	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,514,981	R344G	possibly damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plekhg4	G	A	8: 105,382,012	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,798,446	Y118C	probably damaging	Het
Prrc2b	G	T	2: 32,213,311	E934*	probably null	Het
Psmb9	A	G	17: 34,187,275	F12S	probably benign	Het
Ptdss2	T	C	7: 141,152,880	W183R	probably damaging	Het
Ptpn4	C	T	1: 119,687,605		probably null	Het
Reln	G	A	5: 22,048,815	R600W	probably damaging	Het
Scml4	T	A	10: 42,930,599	V161E	probably damaging	Het
Sdcbp2	A	T	2: 151,589,558	T284S	probably benign	Het
Slc22a29	T	C	19: 8,160,627		probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Spen	T	C	4: 141,469,810		probably benign	Het
Sumf2	T	A	5: 129,849,894		probably benign	Het
Tbx10	A	G	19: 3,993,121		probably benign	Het
Tex10	C	A	4: 48,468,957	V73F	probably damaging	Het
Tgm5	C	A	2: 121,077,012	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,040,191		probably null	Het
Treml2	C	T	17: 48,302,828	T96I	probably damaging	Het
Trim65	T	C	11: 116,126,066	*523W	probably null	Het
Zcchc17	T	A	4: 130,349,306	D28V	probably benign	Het
Zhx2	T	C	15: 57,822,695	F487L	probably damaging	Het
Zkscan6	T	A	11: 65,821,985	L248Q	probably damaging	Het

Other mutations in Il15ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Il15ra	APN	2	11733145	splice site	probably benign
R0105:Il15ra	UTSW	2	11730648	critical splice donor site	probably null
R0945:Il15ra	UTSW	2	11718327	missense	probably damaging	0.96
R1863:Il15ra	UTSW	2	11723436	missense	possibly damaging	0.85
R1975:Il15ra	UTSW	2	11723523	missense	possibly damaging	0.94
R2172:Il15ra	UTSW	2	11723571	missense	possibly damaging	0.94
R2202:Il15ra	UTSW	2	11718344	critical splice donor site	probably null
R3709:Il15ra	UTSW	2	11730647	critical splice donor site	probably null
R3710:Il15ra	UTSW	2	11730647	critical splice donor site	probably null
R4621:Il15ra	UTSW	2	11718329	missense	possibly damaging	0.95
R4701:Il15ra	UTSW	2	11718345	splice site	probably null
R4779:Il15ra	UTSW	2	11718306	missense	probably damaging	0.98
R4844:Il15ra	UTSW	2	11718271	start gained	probably benign
R5237:Il15ra	UTSW	2	11733205	missense	possibly damaging	0.91
R5810:Il15ra	UTSW	2	11733252	splice site	probably null
R5880:Il15ra	UTSW	2	11730615	makesense	probably null
R6160:Il15ra	UTSW	2	11720016	missense	probably damaging	0.99
R7291:Il15ra	UTSW	2	11718381	missense	probably damaging	0.99
R7788:Il15ra	UTSW	2	11723593	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAAGAACATCCGTCCTGGGCAAG -3'
(R):5'- AGCTGCGCTGTGTCATTTCTGC -3'

Sequencing Primer
(F):5'- TCCTGGGCAAGAATGGAAATTAC -3'
(R):5'- CCCTGTATCATAGGGCTCAGTG -3'

Posted On

2013-05-09