Mutagenetix > Incidental Mutation

Incidental Mutation 'R0945:Il15ra'

82041

Institutional Source

Beutler Lab

Gene Symbol

Il15ra

Ensembl Gene

ENSMUSG00000023206

Gene Name

interleukin 15 receptor, alpha chain

Synonyms

MMRRC Submission

039084-MU

Accession Numbers

Essential gene?

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

Stock #

R0945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11709992-11738796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11723138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 54 (V54E)

Ref Sequence

ENSEMBL: ENSMUSP00000110483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078834] [ENSMUST00000114831] [ENSMUST00000114832] [ENSMUST00000114833] [ENSMUST00000114834] [ENSMUST00000123600] [ENSMUST00000138856] [ENSMUST00000128156] [ENSMUST00000148748] [ENSMUST00000135341] [ENSMUST00000138349]

AlphaFold

Q60819

Predicted Effect

probably damaging
Transcript: ENSMUST00000078834
AA Change: V54E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206
AA Change: V54E

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 damaging
Transcript: ENSMUST00000114831
AA Change: V54E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206
AA Change: V54E

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 damaging
Transcript: ENSMUST00000114832
AA Change: V54E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110481
Gene: ENSMUSG00000023206
AA Change: V54E

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 damaging
Transcript: ENSMUST00000114833
AA Change: V54E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110482
Gene: ENSMUSG00000023206
AA Change: V54E

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 damaging
Transcript: ENSMUST00000114834
AA Change: V54E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110483
Gene: ENSMUSG00000023206
AA Change: V54E

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 benign
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

possibly damaging
Transcript: ENSMUST00000138856
AA Change: V54E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120539
Gene: ENSMUSG00000023206
AA Change: V54E

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
PDB:2PSM\|C	34	59	1e-11	PDB
Blast:CCP	36	59	3e-9	BLAST
low complexity region	64	73	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130245

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

noncoding transcript
Transcript: ENSMUST00000139774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191662

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000135341

SMART Domains

Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206

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

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

98% (44/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,110,481 (GRCm39)	M883V	probably benign	Het
Allc	A	G	12: 28,609,962 (GRCm39)	S212P	probably benign	Het
Anxa10	A	G	8: 62,513,279 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,268 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,668,889 (GRCm39)		probably benign	Het
Arhgap30	G	T	1: 171,230,854 (GRCm39)	V204L	probably damaging	Het
Cd109	T	A	9: 78,596,223 (GRCm39)	V852E	possibly damaging	Het
Ceacam5	T	A	7: 17,481,269 (GRCm39)	Y339N	probably damaging	Het
Chaf1a	A	G	17: 56,374,441 (GRCm39)	D876G	probably damaging	Het
Chd9	A	G	8: 91,659,630 (GRCm39)	K197E	possibly damaging	Het
Cnr2	A	T	4: 135,644,632 (GRCm39)	M237L	probably benign	Het
Dnm2	C	A	9: 21,416,956 (GRCm39)	Q830K	probably damaging	Het
Dst	T	C	1: 34,310,500 (GRCm39)	L1615P	probably damaging	Het
Eid1	A	G	2: 125,515,497 (GRCm39)	D129G	probably damaging	Het
Exoc5	A	G	14: 49,276,799 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,723,803 (GRCm39)	Y1854C	probably benign	Het
Il4i1	G	A	7: 44,489,128 (GRCm39)	V306M	probably damaging	Het
Lrsam1	T	C	2: 32,837,921 (GRCm39)	D211G	probably benign	Het
Miga1	A	T	3: 152,023,300 (GRCm39)	F250L	possibly damaging	Het
Myrfl	C	T	10: 116,639,299 (GRCm39)		probably benign	Het
Nell1	A	G	7: 49,869,333 (GRCm39)	I203V	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or14j9	G	A	17: 37,874,278 (GRCm39)	T308I	probably benign	Het
Or4a15	T	C	2: 89,193,599 (GRCm39)	Y58C	probably damaging	Het
Or52u1	T	A	7: 104,237,879 (GRCm39)	N289K	probably damaging	Het
Pdxdc1	A	G	16: 13,675,296 (GRCm39)	L345P	probably damaging	Het
Pex3	C	A	10: 13,418,420 (GRCm39)	A79S	probably benign	Het
Pla2r1	A	C	2: 60,288,754 (GRCm39)	L626R	possibly damaging	Het
Plcb3	A	G	19: 6,932,246 (GRCm39)	S1107P	probably damaging	Het
Ppcdc	C	T	9: 57,327,441 (GRCm39)		probably null	Het
Rbak	A	T	5: 143,159,334 (GRCm39)	F573Y	probably damaging	Het
Rfc1	A	G	5: 65,436,052 (GRCm39)		probably null	Het
Rpl13	C	T	8: 123,831,913 (GRCm39)	A203V	possibly damaging	Het
Scn8a	A	G	15: 100,913,668 (GRCm39)	H1020R	possibly damaging	Het
Slf1	A	G	13: 77,251,590 (GRCm39)		probably benign	Het
Synj1	A	G	16: 90,757,333 (GRCm39)	L905S	possibly damaging	Het
Tmem59	T	A	4: 107,044,922 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uri1	A	T	7: 37,669,103 (GRCm39)	D127E	probably damaging	Het
Usp31	T	C	7: 121,269,476 (GRCm39)	E489G	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp941	C	T	7: 140,391,577 (GRCm39)	R594H	probably damaging	Het
Zfy1	T	C	Y: 725,983 (GRCm39)	D594G	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
R0105:Il15ra	UTSW	2	11,735,459 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- ATCCAGCCGCACTGAATGGATG -3'
(R):5'- GGGTGACAGAACCCACTACCAATG -3'

Sequencing Primer
(F):5'- CTGGCTTCTACACTCAGGG -3'
(R):5'- TTAGCTCCAGATCTCAGAACAGATG -3'

Posted On

2013-11-08