Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Il15ra'

599640

Institutional Source

Beutler Lab

Gene Symbol

Il15ra

Ensembl Gene

ENSMUSG00000023206

Gene Name

interleukin 15 receptor, alpha chain

Synonyms

MMRRC Submission

045844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11709992-11738796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11728404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 49 (T49I)

Ref Sequence

ENSEMBL: ENSMUSP00000131473 (fasta)

Gene Model

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

AlphaFold

Q60819

PDB Structure

Crystal structure of Interleukin 15 in complex with Interleukin 15 receptor alpha [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078834
AA Change: T189I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206
AA Change: T189I

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

possibly damaging
Transcript: ENSMUST00000114831
AA Change: T156I

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206
AA Change: T156I

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

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 benign
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 benign
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

possibly damaging
Transcript: ENSMUST00000123600
AA Change: T101I

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

SMART Domains

Protein: ENSMUSP00000130792
Gene: ENSMUSG00000023206
AA Change: T101I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128156
AA Change: T49I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126364
Gene: ENSMUSG00000023206
AA Change: T49I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138349
AA Change: T49I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131473
Gene: ENSMUSG00000023206
AA Change: T49I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135341
AA Change: T49I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206
AA Change: T49I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138856

SMART Domains

Protein: ENSMUSP00000120539
Gene: ENSMUSG00000023206

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

possibly damaging
Transcript: ENSMUST00000148748
AA Change: T49I

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

SMART Domains

Protein: ENSMUSP00000132058
Gene: ENSMUSG00000023206
AA Change: T49I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	T	14: 68,750,094 (GRCm39)	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,721,433 (GRCm39)	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,546,894 (GRCm39)	D399A	probably benign	Het
Ankrd23	T	C	1: 36,570,808 (GRCm39)	N274S	probably damaging	Het
Aopep	A	T	13: 63,304,407 (GRCm39)	H473L	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Arpc4	A	T	6: 113,362,565 (GRCm39)	M149L	probably benign	Het
Bdp1	T	C	13: 100,191,759 (GRCm39)	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,854,121 (GRCm39)	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,110,319 (GRCm39)	S322P	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	G	9: 9,704,934 (GRCm39)	S622P	probably benign	Het
Col22a1	A	G	15: 71,824,166 (GRCm39)		probably null	Het
Csf2rb2	A	T	15: 78,177,041 (GRCm39)	I143N	probably benign	Het
Cwh43	T	C	5: 73,572,377 (GRCm39)	L205P	probably damaging	Het
Dennd5b	T	C	6: 148,970,064 (GRCm39)	T52A	probably benign	Het
Dhx40	A	G	11: 86,666,502 (GRCm39)	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,133 (GRCm39)	L268P	probably damaging	Het
Dzip1	A	T	14: 119,120,805 (GRCm39)	D717E	probably benign	Het
Elmo3	A	G	8: 106,034,876 (GRCm39)	N389D	probably damaging	Het
Evi2a	T	C	11: 79,418,768 (GRCm39)	E14G	unknown	Het
Fam149a	T	A	8: 45,834,554 (GRCm39)	R82W	probably damaging	Het
Farp1	A	T	14: 121,513,665 (GRCm39)	E820V	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,443 (GRCm39)	V2214I	possibly damaging	Het
Galnt4	C	A	10: 98,944,975 (GRCm39)	N233K	possibly damaging	Het
Gbp5	A	G	3: 142,208,841 (GRCm39)	Y128C	probably damaging	Het
Gm4871	G	A	5: 144,969,420 (GRCm39)	T33I	probably benign	Het
Gm5592	T	C	7: 40,936,118 (GRCm39)	S207P	probably benign	Het
Gtf2ird1	A	T	5: 134,445,985 (GRCm39)	C15*	probably null	Het
Ido2	T	A	8: 25,037,242 (GRCm39)	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,268 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,337,571 (GRCm39)	C2460*	probably null	Het
Kcnj11	T	C	7: 45,749,179 (GRCm39)	N48S	probably damaging	Het
Lmo7	A	C	14: 102,136,012 (GRCm39)	N695T	possibly damaging	Het
Mmp15	C	A	8: 96,094,776 (GRCm39)	H217N	probably damaging	Het
Mtcl2	C	T	2: 156,869,504 (GRCm39)	A1044T	probably benign	Het
Muc21	A	T	17: 35,929,798 (GRCm39)	S1463T	unknown	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,186,627 (GRCm39)	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,126,603 (GRCm39)	N396K	probably damaging	Het
Oas1c	A	G	5: 120,939,107 (GRCm39)	F361L	probably benign	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,948 (GRCm39)	Y144F	probably benign	Het
Osbpl9	T	C	4: 108,919,691 (GRCm39)	K606E	probably benign	Het
Pkp2	C	A	16: 16,043,272 (GRCm39)	L111I	probably benign	Het
Pogz	A	G	3: 94,782,544 (GRCm39)	Y635C	probably damaging	Het
Prdx2	A	G	8: 85,698,303 (GRCm39)	T165A	probably benign	Het
Ptcd3	T	C	6: 71,862,541 (GRCm39)	I465V	probably benign	Het
Ptprd	G	A	4: 75,916,841 (GRCm39)	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,585,225 (GRCm39)	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,634,200 (GRCm39)		probably null	Het
Rimbp3	T	A	16: 17,030,568 (GRCm39)	Y1331N	probably benign	Het
Sav1	T	C	12: 70,030,995 (GRCm39)	R176G	probably damaging	Het
Sirt5	A	G	13: 43,536,623 (GRCm39)	H219R	probably benign	Het
Skint5	T	G	4: 113,403,715 (GRCm39)	D1169A	unknown	Het
Slfn9	G	T	11: 82,873,467 (GRCm39)	Q479K	possibly damaging	Het
Spata31f1e	A	T	4: 42,793,546 (GRCm39)	H195Q	possibly damaging	Het
Susd4	T	C	1: 182,722,767 (GRCm39)	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,232,912 (GRCm39)	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,239,949 (GRCm39)	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,377,429 (GRCm39)	K223*	probably null	Het
Trav3-1	T	C	14: 52,818,581 (GRCm39)	V85A	probably damaging	Het
Ttn	T	C	2: 76,716,100 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,559 (GRCm39)	I344V	not run	Het
Vps13c	A	T	9: 67,847,765 (GRCm39)	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,996,223 (GRCm39)	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,752,654 (GRCm39)	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,691 (GRCm39)	V377D	probably benign	Het
Zswim3	T	C	2: 164,661,699 (GRCm39)	C60R	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
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
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'- GTCTTGGAATTTCCTGCAGAGC -3'
(R):5'- TTACAGTGGGGATTGCAATAACC -3'

Sequencing Primer
(F):5'- TTTCCTGCAGAGCCAGAAG -3'
(R):5'- GTGGGGATTGCAATAACCAACTAACC -3'

Posted On

2019-11-26