Mutagenetix > Incidental Mutation

Incidental Mutation 'R5880:Il15ra'

454366

Institutional Source

Beutler Lab

Gene Symbol

Il15ra

Ensembl Gene

ENSMUSG00000023206

Gene Name

interleukin 15 receptor, alpha chain

Synonyms

MMRRC Submission

043235-MU

Accession Numbers

Essential gene?

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

Stock #

R5880 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

11709992-11738796 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 11735426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 104 (*104W)

Ref Sequence

ENSEMBL: ENSMUSP00000132058 (fasta)

Gene Model

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

AlphaFold

Q60819

Predicted Effect

probably benign
Transcript: ENSMUST00000078834
AA Change: M221V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206
AA Change: M221V

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 benign
Transcript: ENSMUST00000114831
AA Change: M188V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206
AA Change: M188V

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 benign
Transcript: ENSMUST00000114832
AA Change: M113V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110481
Gene: ENSMUSG00000023206
AA Change: M113V

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 benign
Transcript: ENSMUST00000114833
AA Change: M124V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110482
Gene: ENSMUSG00000023206
AA Change: M124V

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 benign
Transcript: ENSMUST00000114834
AA Change: M155V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110483
Gene: ENSMUSG00000023206
AA Change: M155V

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
AA Change: *156W

SMART Domains

Protein: ENSMUSP00000130792
Gene: ENSMUSG00000023206
AA Change: *156W

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

noncoding transcript
Transcript: ENSMUST00000139774

Predicted Effect

probably null
Transcript: ENSMUST00000148748
AA Change: *104W

SMART Domains

Protein: ENSMUSP00000132058
Gene: ENSMUSG00000023206
AA Change: *104W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191662

Predicted Effect

probably benign
Transcript: ENSMUST00000128156
AA Change: M81V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126364
Gene: ENSMUSG00000023206
AA Change: M81V

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: ENSMUST00000135341
AA Change: M81V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206
AA Change: M81V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138349
AA Change: M81V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131473
Gene: ENSMUSG00000023206
AA Change: M81V

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

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 93.4%
20x: 74.5%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	G	A	18: 74,937,072 (GRCm39)	V319M	probably damaging	Het
Actrt2	T	A	4: 154,751,747 (GRCm39)	T130S	probably benign	Het
Ap1g2	A	G	14: 55,340,157 (GRCm39)	S392P	probably damaging	Het
Cby2	C	T	14: 75,821,243 (GRCm39)	V119I	probably benign	Het
Cdh23	T	A	10: 60,220,713 (GRCm39)	N1344Y	probably damaging	Het
Cyp4x1	A	T	4: 114,965,918 (GRCm39)	H469Q	possibly damaging	Het
Dhodh	T	A	8: 110,321,409 (GRCm39)	T326S	probably benign	Het
Ebf3	T	G	7: 136,800,367 (GRCm39)	N529T	probably benign	Het
Echdc2	A	C	4: 108,030,097 (GRCm39)	I133L	possibly damaging	Het
Fbn2	A	T	18: 58,156,354 (GRCm39)	C2488*	probably null	Het
Fndc3b	T	A	3: 27,483,052 (GRCm39)	T1049S	probably damaging	Het
Igsf10	T	C	3: 59,238,252 (GRCm39)	Y643C	probably damaging	Het
Iqgap3	T	A	3: 88,024,509 (GRCm39)	S628R	possibly damaging	Het
Lrp1b	C	T	2: 41,231,826 (GRCm39)	V1215M	probably benign	Het
Mmp20	G	A	9: 7,655,002 (GRCm39)	R370Q	probably benign	Het
Or10al4	T	C	17: 38,037,545 (GRCm39)	V219A	probably benign	Het
Or4d5	A	T	9: 40,012,543 (GRCm39)	M81K	possibly damaging	Het
Or4k6	A	G	14: 50,476,172 (GRCm39)	S57P	possibly damaging	Het
Patj	A	T	4: 98,299,382 (GRCm39)	H168L	probably damaging	Het
Peak1	A	T	9: 56,114,894 (GRCm39)	I319N	probably damaging	Het
Rgs20	A	T	1: 4,994,104 (GRCm39)	C93S	probably damaging	Het
Sh3tc2	A	T	18: 62,106,382 (GRCm39)	H137L	probably benign	Het
Sycp2	A	G	2: 178,016,263 (GRCm39)	V733A	possibly damaging	Het
Tet3	G	C	6: 83,347,532 (GRCm39)	P1154R	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
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
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'- AGCTGGCTAGAAGAACATCC -3'
(R):5'- TCAGTGCCTGCTGACATGTG -3'

Sequencing Primer
(F):5'- TGGCTAGAAGAACATCCGTCCTG -3'
(R):5'- CCTGTGTGAGAAGTGGATAGCC -3'

Posted On

2017-02-10