Mutagenetix > Incidental Mutation

Incidental Mutation 'R0105:Il15ra'

17765

Institutional Source

Beutler Lab

Gene Symbol

Il15ra

Ensembl Gene

ENSMUSG00000023206

Gene Name

interleukin 15 receptor, alpha chain

Synonyms

MMRRC Submission

038391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0105 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11709992-11738796 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 11735459 bp (GRCm39)

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]

AlphaFold

Q60819

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

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

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

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 85.3%
3x: 77.7%
10x: 47.9%
20x: 15.1%

Validation Efficiency

96% (53/55)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Adcy9	A	G	16: 4,106,252 (GRCm39)	V954A	probably damaging	Het
Aldh8a1	T	A	10: 21,271,438 (GRCm39)	M388K	probably damaging	Het
Cdsn	A	C	17: 35,867,035 (GRCm39)	R521S	possibly damaging	Het
Cog3	A	G	14: 75,959,580 (GRCm39)	S591P	probably damaging	Het
Cplane1	T	A	15: 8,216,876 (GRCm39)	V698D	probably benign	Het
Crmp1	T	A	5: 37,441,479 (GRCm39)	D520E	probably damaging	Het
Ddhd1	T	C	14: 45,848,147 (GRCm39)	D507G	probably benign	Het
Dnah6	C	T	6: 73,132,262 (GRCm39)	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,735,111 (GRCm39)	S1030P	probably benign	Het
Fam20b	T	C	1: 156,518,140 (GRCm39)	E218G	probably damaging	Het
Gab2	T	C	7: 96,948,279 (GRCm39)	Y290H	probably damaging	Het
Gm973	A	G	1: 59,621,633 (GRCm39)	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,700,026 (GRCm39)	T249A	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Krt76	T	C	15: 101,793,347 (GRCm39)	T564A	unknown	Het
Lrrk1	G	T	7: 65,942,089 (GRCm39)	D716E	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mroh7	T	C	4: 106,568,467 (GRCm39)	T48A	possibly damaging	Het
Or4a71	T	C	2: 89,358,707 (GRCm39)	T16A	probably benign	Het
Pkhd1	G	A	1: 20,593,956 (GRCm39)	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,345,325 (GRCm39)	R344G	possibly damaging	Het
Plekhg4	G	A	8: 106,108,644 (GRCm39)	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,674,210 (GRCm39)	Y118C	probably damaging	Het
Ptpn4	C	T	1: 119,615,335 (GRCm39)		probably null	Het
Reln	G	A	5: 22,253,813 (GRCm39)	R600W	probably damaging	Het
Sumf2	T	A	5: 129,878,735 (GRCm39)		probably benign	Het
Tex10	C	A	4: 48,468,957 (GRCm39)	V73F	probably damaging	Het
Tgm5	C	A	2: 120,907,493 (GRCm39)	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,351,082 (GRCm39)		probably null	Het
Treml2	C	T	17: 48,609,856 (GRCm39)	T96I	probably damaging	Het
Zcchc17	T	A	4: 130,243,099 (GRCm39)	D28V	probably benign	Het
Zkscan6	T	A	11: 65,712,811 (GRCm39)	L248Q	probably damaging	Het

Other mutations in Il15ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Il15ra	APN	2	11,737,956 (GRCm39)	splice site	probably benign
R0105:Il15ra	UTSW	2	11,735,459 (GRCm39)	critical splice donor site	probably null
R0945:Il15ra	UTSW	2	11,723,138 (GRCm39)	missense	probably damaging	0.96
R1863:Il15ra	UTSW	2	11,728,247 (GRCm39)	missense	possibly damaging	0.85
R1975:Il15ra	UTSW	2	11,728,334 (GRCm39)	missense	possibly damaging	0.94
R2172:Il15ra	UTSW	2	11,728,382 (GRCm39)	missense	possibly damaging	0.94
R2202:Il15ra	UTSW	2	11,723,155 (GRCm39)	critical splice donor site	probably null
R3709:Il15ra	UTSW	2	11,735,458 (GRCm39)	critical splice donor site	probably null
R3710:Il15ra	UTSW	2	11,735,458 (GRCm39)	critical splice donor site	probably null
R4621:Il15ra	UTSW	2	11,723,140 (GRCm39)	missense	possibly damaging	0.95
R4701:Il15ra	UTSW	2	11,723,156 (GRCm39)	splice site	probably null
R4779:Il15ra	UTSW	2	11,723,117 (GRCm39)	missense	probably damaging	0.98
R4844:Il15ra	UTSW	2	11,723,082 (GRCm39)	start gained	probably benign
R5237:Il15ra	UTSW	2	11,738,016 (GRCm39)	missense	possibly damaging	0.91
R5810:Il15ra	UTSW	2	11,738,063 (GRCm39)	splice site	probably null
R5880:Il15ra	UTSW	2	11,735,426 (GRCm39)	makesense	probably null
R6160:Il15ra	UTSW	2	11,724,827 (GRCm39)	missense	probably damaging	0.99
R7291:Il15ra	UTSW	2	11,723,192 (GRCm39)	missense	probably damaging	0.99
R7788:Il15ra	UTSW	2	11,728,404 (GRCm39)	missense	probably damaging	0.99
R8941:Il15ra	UTSW	2	11,737,995 (GRCm39)	missense	possibly damaging	0.94
R9013:Il15ra	UTSW	2	11,732,576 (GRCm39)	missense	probably benign	0.00
R9025:Il15ra	UTSW	2	11,723,233 (GRCm39)	missense	possibly damaging	0.85
R9481:Il15ra	UTSW	2	11,724,854 (GRCm39)	missense	probably benign	0.35
R9756:Il15ra	UTSW	2	11,728,259 (GRCm39)	missense	probably benign	0.00

Posted On

2013-01-31