Incidental Mutation 'R1975:Il15ra'
ID 221514
Institutional Source Beutler Lab
Gene Symbol Il15ra
Ensembl Gene ENSMUSG00000023206
Gene Name interleukin 15 receptor, alpha chain
Synonyms
MMRRC Submission 039988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1975 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 11709992-11738796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11728334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000110480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078834] [ENSMUST00000114831] [ENSMUST00000114832] [ENSMUST00000114833] [ENSMUST00000114834] [ENSMUST00000148748] [ENSMUST00000123600] [ENSMUST00000135341] [ENSMUST00000128156] [ENSMUST00000138349] [ENSMUST00000138856]
AlphaFold Q60819
Predicted Effect possibly damaging
Transcript: ENSMUST00000078834
AA Change: T166A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206
AA Change: T166A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000114831
AA Change: T133A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206
AA Change: T133A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000148748
AA Change: T26A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132058
Gene: ENSMUSG00000023206
AA Change: T26A

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123600
AA Change: T78A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130792
Gene: ENSMUSG00000023206
AA Change: T78A

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000135341
AA Change: T26A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206
AA Change: T26A

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128156
AA Change: T26A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126364
Gene: ENSMUSG00000023206
AA Change: T26A

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000138349
AA Change: T26A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131473
Gene: ENSMUSG00000023206
AA Change: T26A

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126394
SMART Domains Protein: ENSMUSP00000131640
Gene: ENSMUSG00000023206

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133975
Predicted Effect probably benign
Transcript: ENSMUST00000138856
SMART Domains Protein: ENSMUSP00000120539
Gene: ENSMUSG00000023206

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (71/74)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,322 (GRCm39) T429A probably benign Het
Afmid A C 11: 117,727,300 (GRCm39) I275L probably benign Het
Aimp1 A C 3: 132,382,860 (GRCm39) D5E possibly damaging Het
Aldob G A 4: 49,538,171 (GRCm39) A319V probably benign Het
Ankar C T 1: 72,697,600 (GRCm39) V1068I possibly damaging Het
Ccr2 C T 9: 123,906,830 (GRCm39) S370L probably benign Het
Chrnb4 A G 9: 54,942,102 (GRCm39) Y391H probably damaging Het
Clip1 A G 5: 123,761,281 (GRCm39) M873T possibly damaging Het
Cspg4 G C 9: 56,797,762 (GRCm39) G1409R probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dock4 T C 12: 40,829,641 (GRCm39) probably benign Het
Eml4 T C 17: 83,717,622 (GRCm39) S65P probably benign Het
Fblim1 A T 4: 141,312,175 (GRCm39) D183E probably damaging Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Gm973 A T 1: 59,601,930 (GRCm39) T515S possibly damaging Het
Hdac7 G A 15: 97,704,386 (GRCm39) Q495* probably null Het
Hipk3 T C 2: 104,301,518 (GRCm39) I225V probably benign Het
Hrc A T 7: 44,985,638 (GRCm39) D263V probably damaging Het
Hs6st3 T C 14: 119,375,888 (GRCm39) I21T probably benign Het
Krt78 T C 15: 101,854,603 (GRCm39) *1069W probably null Het
Lama3 T A 18: 12,586,920 (GRCm39) M761K probably damaging Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Macf1 T C 4: 123,383,005 (GRCm39) T1320A probably damaging Het
Mark3 A T 12: 111,581,875 (GRCm39) I115L probably damaging Het
Mcph1 T G 8: 18,739,081 (GRCm39) probably benign Het
Med23 T A 10: 24,786,664 (GRCm39) N923K probably benign Het
Msrb2 T G 2: 19,398,032 (GRCm39) Y97D probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Mylk T C 16: 34,700,673 (GRCm39) probably null Het
Nfrkb T A 9: 31,325,980 (GRCm39) V1141E possibly damaging Het
Obscn T C 11: 58,958,555 (GRCm39) E3675G probably damaging Het
Or11h7 T A 14: 50,890,821 (GRCm39) N42K probably damaging Het
Or2l5 G A 16: 19,333,586 (GRCm39) P267S probably damaging Het
Or2t6 A T 14: 14,175,446 (GRCm38) V212E probably damaging Het
Or51aa2 A T 7: 103,188,201 (GRCm39) F80Y probably damaging Het
Or52z14 A G 7: 103,253,219 (GRCm39) probably null Het
Or5ac21 T C 16: 59,124,091 (GRCm39) S193P probably damaging Het
Or8k21 C G 2: 86,145,498 (GRCm39) G44A probably damaging Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pdgfc C T 3: 81,116,552 (GRCm39) T302I probably damaging Het
Pkhd1l1 G T 15: 44,393,109 (GRCm39) V1815F probably damaging Het
Pnpt1 A G 11: 29,091,256 (GRCm39) I337V probably benign Het
Psma8 T G 18: 14,864,033 (GRCm39) probably null Het
Rbl2 T C 8: 91,812,090 (GRCm39) S220P probably benign Het
Rere T A 4: 150,700,190 (GRCm39) D1091E probably damaging Het
Rpa1 A G 11: 75,197,002 (GRCm39) C540R probably damaging Het
Sema3d T A 5: 12,613,285 (GRCm39) V454E probably damaging Het
Sema3d T C 5: 12,634,965 (GRCm39) V677A probably benign Het
Sgk2 A G 2: 162,846,080 (GRCm39) N207S probably benign Het
Sirpb1a T C 3: 15,444,141 (GRCm39) I370V probably benign Het
Slc22a19 A G 19: 7,661,224 (GRCm39) probably benign Het
Slc26a1 T A 5: 108,820,338 (GRCm39) D287V probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Slco2a1 T A 9: 102,956,653 (GRCm39) Y488* probably null Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Strn T C 17: 78,999,928 (GRCm39) probably null Het
Tbxas1 A G 6: 38,925,575 (GRCm39) probably benign Het
Thumpd3 A G 6: 113,032,838 (GRCm39) N192S possibly damaging Het
Tns3 T A 11: 8,385,738 (GRCm39) I1386F probably benign Het
Treml4 T A 17: 48,579,821 (GRCm39) V219E probably damaging Het
Triobp T C 15: 78,850,908 (GRCm39) V354A probably benign Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tub G A 7: 108,627,042 (GRCm39) G314R possibly damaging Het
Ube3b C T 5: 114,537,926 (GRCm39) T339M possibly damaging Het
Vmn2r43 A G 7: 8,258,550 (GRCm39) I221T possibly damaging Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Zfp110 C T 7: 12,582,429 (GRCm39) T359I probably benign Het
Zfp322a A T 13: 23,541,074 (GRCm39) C223S probably damaging Het
Zfp512b G A 2: 181,228,878 (GRCm39) R696* probably null Het
Other mutations in Il15ra
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAGTAAGTCCTTGGGTCCCAGG -3'
(R):5'- ACTGGACCTCTCAGTCAGTC -3'

Sequencing Primer
(F):5'- TTGGGTCCCAGGCACTAGTC -3'
(R):5'- TCTCAGTCAGTCCCAAATTGAG -3'
Posted On 2014-08-25