Incidental Mutation 'R0322:Il7r'
ID25633
Institutional Source Beutler Lab
Gene Symbol Il7r
Ensembl Gene ENSMUSG00000003882
Gene Nameinterleukin 7 receptor
SynonymsIL-7 receptor alpha chain, CD127, IL-7Ralpha
MMRRC Submission 038532-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R0322 (G1)
Quality Score185
Status Validated
Chromosome15
Chromosomal Location9505788-9530176 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 9510215 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 251 (F251I)
Ref Sequence ENSEMBL: ENSMUSP00000154530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003981] [ENSMUST00000228782]
Predicted Effect probably benign
Transcript: ENSMUST00000003981
AA Change: F251I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: F251I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 25 37 N/A INTRINSIC
FN3 129 216 1.09e1 SMART
transmembrane domain 241 263 N/A INTRINSIC
low complexity region 413 422 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227234
Predicted Effect probably benign
Transcript: ENSMUST00000228782
AA Change: F251I

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.1777 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.8%
  • 20x: 84.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: Interleukin-7 is a glycoptorein involved in the regulation of lymphopoiesis. Response of cells to IL7 is dependent on the presence of the interleukin 7 receptor (IL7R); the active receptor is a alpha/gamma chain heterodimer. The gamma(c) chain, which also associates with the interleukin-2 receptor, serves primarily to activate signal transduction by the IL7R complex, while the alpha chain of IL7R determines specific signaling events through its association with cytoplasmic signaling molecules. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 58,025,372 S275T possibly damaging Het
Adam34 G T 8: 43,651,921 T229N probably benign Het
Adgrb3 C A 1: 25,221,748 probably benign Het
Ankhd1 T A 18: 36,658,008 Y2478* probably null Het
Arl9 A G 5: 77,007,190 probably benign Het
Bub1b G A 2: 118,639,618 probably benign Het
Chl1 A T 6: 103,701,883 probably benign Het
Cobl T A 11: 12,267,072 E465V probably damaging Het
Cobll1 A T 2: 65,102,098 M520K possibly damaging Het
Dll3 A G 7: 28,296,368 V336A possibly damaging Het
Dnmbp T C 19: 43,854,846 H1193R probably damaging Het
Fbxo43 T C 15: 36,152,192 probably benign Het
Gart G A 16: 91,623,037 probably benign Het
Gjc3 A T 5: 137,957,498 M175K possibly damaging Het
Gm9008 T C 6: 76,496,418 Y405C probably benign Het
Gpc5 T A 14: 115,399,151 N415K probably benign Het
Idh2 C T 7: 80,098,257 A232T probably damaging Het
Insc A G 7: 114,792,265 E141G probably damaging Het
Itm2c C T 1: 85,907,030 T160M probably damaging Het
Mboat1 T C 13: 30,232,080 probably benign Het
Mdm2 G T 10: 117,702,204 H96Q possibly damaging Het
Mettl13 A G 1: 162,544,176 probably benign Het
Mfsd4b3 T C 10: 39,947,530 N245D probably damaging Het
Mroh2a C T 1: 88,230,680 R150* probably null Het
Mtmr3 T C 11: 4,487,505 Y982C possibly damaging Het
Mymk A T 2: 27,067,406 L66Q probably damaging Het
Myo18a T C 11: 77,829,800 S767P probably damaging Het
Ndufa8 T C 2: 36,036,622 D134G probably benign Het
Noxa1 A G 2: 25,092,554 F83S probably damaging Het
Npc1l1 T A 11: 6,229,042 I123L probably benign Het
Ogdhl A G 14: 32,337,577 T394A probably benign Het
Olfr1193 T C 2: 88,678,667 S264P probably damaging Het
Olfr290 A G 7: 84,916,313 Y178C probably damaging Het
Pcdh20 T C 14: 88,468,947 T306A probably benign Het
Pcid2 G A 8: 13,090,775 probably benign Het
Phyhip G A 14: 70,463,396 V108M possibly damaging Het
Pnpla5 G T 15: 84,120,719 L144M probably damaging Het
Psmb4 A G 3: 94,886,091 Y160H probably benign Het
Riox2 A T 16: 59,489,389 K369* probably null Het
Sh3tc1 G A 5: 35,706,561 P761S possibly damaging Het
Slc6a3 T A 13: 73,560,926 V323D possibly damaging Het
Smg7 A G 1: 152,849,873 probably null Het
Srrt G A 5: 137,296,608 R370C probably damaging Het
Stc1 T C 14: 69,029,409 V7A probably benign Het
Svep1 G T 4: 58,057,996 probably benign Het
Tbpl2 A G 2: 24,094,979 V51A probably benign Het
Tecr A G 8: 83,572,243 Y248H probably damaging Het
Tenm3 A G 8: 48,236,912 probably benign Het
Tia1 C T 6: 86,420,387 A114V probably damaging Het
Tmprss11f A T 5: 86,591,416 M2K probably benign Het
Tnfsf8 T C 4: 63,834,166 T221A probably damaging Het
Tubgcp5 G A 7: 55,814,978 G536S probably damaging Het
Tyr A T 7: 87,492,917 I145N probably benign Het
Ubr4 T A 4: 139,422,418 V1809E probably damaging Het
Vmn2r65 A T 7: 84,946,548 N309K probably benign Het
Other mutations in Il7r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Il7r APN 15 9525109 missense probably damaging 1.00
IGL01016:Il7r APN 15 9510208 missense probably damaging 0.98
IGL01094:Il7r APN 15 9507999 missense possibly damaging 0.94
IGL01406:Il7r APN 15 9508214 nonsense probably null
IGL02135:Il7r APN 15 9508006 missense probably benign 0.11
IGL02642:Il7r APN 15 9513047 splice site probably benign
happy UTSW 15 9508187 missense probably benign
R0278:Il7r UTSW 15 9516337 missense probably damaging 0.98
R1075:Il7r UTSW 15 9516457 missense probably benign 0.03
R4364:Il7r UTSW 15 9512928 missense probably damaging 1.00
R4451:Il7r UTSW 15 9512948 missense probably benign 0.13
R5527:Il7r UTSW 15 9512924 missense probably benign 0.21
R5575:Il7r UTSW 15 9508187 missense probably benign
R6949:Il7r UTSW 15 9508004 missense probably damaging 1.00
R7479:Il7r UTSW 15 9513031 missense probably damaging 1.00
R7533:Il7r UTSW 15 9507961 missense probably benign 0.02
R7682:Il7r UTSW 15 9512927 missense probably damaging 1.00
Z1177:Il7r UTSW 15 9508057 missense probably benign 0.04
Z1177:Il7r UTSW 15 9510229 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACACATGCAATGCACAGATGCAC -3'
(R):5'- CCGAGATCAGCTCAACTCTTTCTCTCTA -3'

Sequencing Primer
(F):5'- TTGCCTCTTCTGAAATCAACTATG -3'
(R):5'- TCAACTCTTTCTCTCTATCAAAGAAC -3'
Posted On2013-04-16