Incidental Mutation 'BB016:Il4ra'
ID 642898
Institutional Source Beutler Lab
Gene Symbol Il4ra
Ensembl Gene ENSMUSG00000030748
Gene Name interleukin 4 receptor, alpha
Synonyms IL-4 receptor alpha chain, CD124, Il4r
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # BB016
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 125151443-125178646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125174348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 297 (S297P)
Ref Sequence ENSEMBL: ENSMUSP00000033004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033004] [ENSMUST00000206846]
AlphaFold P16382
Predicted Effect probably benign
Transcript: ENSMUST00000033004
AA Change: S297P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: S297P

DomainStartEndE-ValueType
Pfam:IL4Ra_N 28 122 9.9e-39 PFAM
FN3 124 211 3.14e0 SMART
low complexity region 369 385 N/A INTRINSIC
low complexity region 562 574 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
low complexity region 635 647 N/A INTRINSIC
low complexity region 674 683 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206681
Predicted Effect probably benign
Transcript: ENSMUST00000206846
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection. Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Adra1d G T 2: 131,403,600 (GRCm39) C163* probably null Het
Ak9 A G 10: 41,259,944 (GRCm39) D874G Het
Akap8 A T 17: 32,528,419 (GRCm39) S498T probably damaging Het
Alyref2 C G 1: 171,331,407 (GRCm39) F61L probably benign Het
Ank1 A T 8: 23,606,123 (GRCm39) I1172F probably damaging Het
Ankrd50 A T 3: 38,511,258 (GRCm39) F370I probably damaging Het
Apip A C 2: 102,913,366 (GRCm39) T41P probably benign Het
Atg4d G A 9: 21,178,260 (GRCm39) R126Q probably null Het
Ccdc86 A G 19: 10,926,183 (GRCm39) S139P unknown Het
Ceacam16 A G 7: 19,587,556 (GRCm39) L404P probably damaging Het
Dennd3 G T 15: 73,436,423 (GRCm39) V1010L probably damaging Het
Disp1 A G 1: 182,917,103 (GRCm39) S108P probably benign Het
Ecpas A G 4: 58,869,554 (GRCm39) C238R probably damaging Het
Ephb2 A G 4: 136,388,195 (GRCm39) V635A probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gars1 A G 6: 55,040,102 (GRCm39) H343R probably damaging Het
Gli2 A T 1: 118,769,772 (GRCm39) N593K possibly damaging Het
Il18rap T A 1: 40,570,740 (GRCm39) N227K probably damaging Het
Itprid1 G A 6: 55,874,946 (GRCm39) V299M probably damaging Het
Jak1 A T 4: 101,011,842 (GRCm39) F1087I probably damaging Het
Klf16 A G 10: 80,412,698 (GRCm39) S113P probably benign Het
Klhl30 A T 1: 91,283,238 (GRCm39) E280V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lama4 A G 10: 38,954,843 (GRCm39) H1132R probably damaging Het
Lmtk3 A G 7: 45,444,572 (GRCm39) D1085G unknown Het
Lrrc9 C A 12: 72,533,071 (GRCm39) T980K possibly damaging Het
Nceh1 A G 3: 27,333,396 (GRCm39) D164G probably benign Het
Nlrp2 A G 7: 5,330,498 (GRCm39) S633P probably damaging Het
Nxn A G 11: 76,164,863 (GRCm39) V216A possibly damaging Het
Odf4 A T 11: 68,813,759 (GRCm39) V143D possibly damaging Het
Or4d6 G A 19: 12,086,118 (GRCm39) T38I unknown Het
Pex12 A G 11: 83,188,809 (GRCm39) I62T probably damaging Het
Plekhg1 G A 10: 3,869,170 (GRCm39) D237N probably damaging Het
Rxrb T A 17: 34,255,645 (GRCm39) D377E probably benign Het
Ryr2 T A 13: 11,609,680 (GRCm39) D4382V probably damaging Het
Ryr2 T A 13: 11,705,181 (GRCm39) K2862* probably null Het
Ryr3 A G 2: 112,664,533 (GRCm39) L1606P probably benign Het
Samd3 A G 10: 26,127,813 (GRCm39) K270R probably damaging Het
Slc2a5 C A 4: 150,223,942 (GRCm39) F211L probably benign Het
Spata31 T A 13: 65,069,532 (GRCm39) V560D probably benign Het
Tbk1 A G 10: 121,393,138 (GRCm39) C471R probably benign Het
Tbx20 A T 9: 24,637,059 (GRCm39) S343T possibly damaging Het
Tesk2 A G 4: 116,659,452 (GRCm39) E304G probably benign Het
Tle1 A G 4: 72,118,239 (GRCm39) F2L possibly damaging Het
Tle4 G T 19: 14,495,244 (GRCm39) P162T probably benign Het
Ttn G A 2: 76,673,816 (GRCm39) P11172S unknown Het
Tulp1 T C 17: 28,572,746 (GRCm39) N470S possibly damaging Het
Unc13b A G 4: 43,174,399 (GRCm39) I1742M unknown Het
Vmn2r107 T G 17: 20,565,706 (GRCm39) I7S probably null Het
Vmn2r91 T G 17: 18,327,906 (GRCm39) I500R probably damaging Het
Xpnpep3 A G 15: 81,311,626 (GRCm39) I111V probably damaging Het
Zp3r T A 1: 130,519,217 (GRCm39) E308V probably benign Het
Other mutations in Il4ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Il4ra APN 7 125,168,347 (GRCm39) critical splice donor site probably null
IGL01067:Il4ra APN 7 125,174,333 (GRCm39) missense probably benign 0.09
IGL01107:Il4ra APN 7 125,175,086 (GRCm39) missense possibly damaging 0.88
IGL02224:Il4ra APN 7 125,169,271 (GRCm39) splice site probably benign
IGL02249:Il4ra APN 7 125,166,396 (GRCm39) missense probably benign 0.01
IGL02383:Il4ra APN 7 125,170,676 (GRCm39) missense probably benign 0.06
IGL02614:Il4ra APN 7 125,174,962 (GRCm39) nonsense probably null
IGL02879:Il4ra APN 7 125,176,069 (GRCm39) missense possibly damaging 0.88
Haile UTSW 7 125,173,889 (GRCm39) critical splice donor site probably null
Lowe UTSW 7 125,166,393 (GRCm39) missense probably damaging 1.00
BB006:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
IGL02991:Il4ra UTSW 7 125,174,833 (GRCm39) missense possibly damaging 0.70
PIT4418001:Il4ra UTSW 7 125,175,510 (GRCm39) missense probably benign 0.01
R0066:Il4ra UTSW 7 125,175,403 (GRCm39) missense possibly damaging 0.80
R0127:Il4ra UTSW 7 125,168,242 (GRCm39) missense probably damaging 1.00
R0148:Il4ra UTSW 7 125,174,709 (GRCm39) missense probably damaging 1.00
R0238:Il4ra UTSW 7 125,174,371 (GRCm39) splice site probably benign
R0239:Il4ra UTSW 7 125,174,371 (GRCm39) splice site probably benign
R0884:Il4ra UTSW 7 125,173,835 (GRCm39) missense probably damaging 1.00
R1102:Il4ra UTSW 7 125,173,889 (GRCm39) critical splice donor site probably null
R1622:Il4ra UTSW 7 125,169,225 (GRCm39) missense possibly damaging 0.87
R1773:Il4ra UTSW 7 125,166,354 (GRCm39) missense possibly damaging 0.94
R4510:Il4ra UTSW 7 125,175,280 (GRCm39) missense possibly damaging 0.63
R4511:Il4ra UTSW 7 125,175,280 (GRCm39) missense possibly damaging 0.63
R4612:Il4ra UTSW 7 125,175,255 (GRCm39) missense probably benign 0.14
R5865:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
R5996:Il4ra UTSW 7 125,166,393 (GRCm39) missense probably damaging 1.00
R6057:Il4ra UTSW 7 125,170,735 (GRCm39) missense probably damaging 1.00
R6246:Il4ra UTSW 7 125,175,577 (GRCm39) missense probably benign 0.00
R7218:Il4ra UTSW 7 125,174,950 (GRCm39) missense probably benign 0.01
R7624:Il4ra UTSW 7 125,168,280 (GRCm39) missense probably damaging 1.00
R7904:Il4ra UTSW 7 125,164,845 (GRCm39) missense probably benign 0.05
R7929:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
R8360:Il4ra UTSW 7 125,169,138 (GRCm39) missense probably damaging 1.00
R9573:Il4ra UTSW 7 125,169,158 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATGCCCTTTCACTGGTGTG -3'
(R):5'- ACTCAGCCACCCATGATTGC -3'

Sequencing Primer
(F):5'- GCAGAGGCTGAGACTCCCAG -3'
(R):5'- GAATTGATTGCCACCAGC -3'
Posted On 2020-08-01