Incidental Mutation 'IGL00765:Csf2rb2'
ID9908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2rb2
Ensembl Gene ENSMUSG00000071714
Gene Namecolony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage)
SynonymsBil3, AIC2A, Il3r, Il3rb2, BetaIl3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00765
Quality Score
Status
Chromosome15
Chromosomal Location78282507-78305721 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78292716 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 185 (S185P)
Ref Sequence ENSEMBL: ENSMUSP00000094083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096356] [ENSMUST00000230115]
PDB Structure
Extracellular domains of mouse IL-3 beta receptor [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000096356
AA Change: S185P

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: S185P

DomainStartEndE-ValueType
SCOP:d1gh7a1 29 131 1e-57 SMART
FN3 137 225 3.73e-1 SMART
Pfam:IL6Ra-bind 248 342 6.3e-11 PFAM
FN3 343 425 2.83e0 SMART
transmembrane domain 445 467 N/A INTRINSIC
low complexity region 716 743 N/A INTRINSIC
low complexity region 824 845 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230115
Predicted Effect probably benign
Transcript: ENSMUST00000230753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230932
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C T 16: 14,411,508 T368I probably damaging Het
Bub1 T A 2: 127,829,472 N64I probably damaging Het
Ccdc97 A G 7: 25,714,852 L159P probably damaging Het
Chrnd T C 1: 87,195,709 V214A probably damaging Het
Dmxl2 A G 9: 54,415,422 probably benign Het
Eif3e A T 15: 43,278,349 M55K probably benign Het
Ercc6l2 T C 13: 63,848,772 V365A possibly damaging Het
Fndc1 A G 17: 7,772,693 S724P unknown Het
Htt T C 5: 34,877,425 probably benign Het
Ints4 C T 7: 97,535,205 T839I probably damaging Het
Lrp6 T G 6: 134,541,854 T83P probably benign Het
Lrrc8d C T 5: 105,811,952 T76I possibly damaging Het
Nae1 T C 8: 104,517,950 probably benign Het
Nlrp14 T C 7: 107,190,139 V45A possibly damaging Het
Nrp2 C A 1: 62,704,251 S16* probably null Het
Nup155 T C 15: 8,153,228 I1225T probably benign Het
Pnpla7 G T 2: 24,980,224 A43S probably damaging Het
Prcp T C 7: 92,933,099 S431P probably benign Het
Rbck1 A G 2: 152,330,954 probably benign Het
Smg8 T C 11: 87,078,041 E963G probably damaging Het
Tanc1 A C 2: 59,806,301 M836L probably benign Het
Tnpo1 A G 13: 98,850,104 probably benign Het
Other mutations in Csf2rb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Csf2rb2 APN 15 78284847 missense possibly damaging 0.78
IGL01383:Csf2rb2 APN 15 78297043 missense possibly damaging 0.90
IGL01975:Csf2rb2 APN 15 78288886 missense probably benign 0.01
IGL02330:Csf2rb2 APN 15 78285128 missense possibly damaging 0.85
IGL02365:Csf2rb2 APN 15 78287060 missense possibly damaging 0.92
IGL02756:Csf2rb2 APN 15 78284849 missense possibly damaging 0.95
R0269:Csf2rb2 UTSW 15 78288865 missense probably benign 0.09
R0462:Csf2rb2 UTSW 15 78285173 missense probably damaging 1.00
R0540:Csf2rb2 UTSW 15 78287908 missense probably benign 0.00
R0607:Csf2rb2 UTSW 15 78287908 missense probably benign 0.00
R0636:Csf2rb2 UTSW 15 78291960 nonsense probably null
R0782:Csf2rb2 UTSW 15 78286751 missense probably damaging 0.98
R1387:Csf2rb2 UTSW 15 78298214 missense probably damaging 0.99
R1799:Csf2rb2 UTSW 15 78297068 missense probably damaging 1.00
R1881:Csf2rb2 UTSW 15 78292535 intron probably null
R2079:Csf2rb2 UTSW 15 78288007 missense probably benign 0.13
R2108:Csf2rb2 UTSW 15 78292544 missense probably damaging 0.99
R2359:Csf2rb2 UTSW 15 78292776 missense probably benign 0.39
R4614:Csf2rb2 UTSW 15 78291702 missense probably damaging 1.00
R4806:Csf2rb2 UTSW 15 78285290 missense probably benign 0.11
R4900:Csf2rb2 UTSW 15 78285974 splice site probably null
R5206:Csf2rb2 UTSW 15 78292752 missense probably benign
R5270:Csf2rb2 UTSW 15 78291982 splice site probably null
R5427:Csf2rb2 UTSW 15 78288911 missense probably damaging 1.00
R6633:Csf2rb2 UTSW 15 78288952 missense probably benign 0.00
R7067:Csf2rb2 UTSW 15 78292494 missense probably damaging 1.00
R7102:Csf2rb2 UTSW 15 78297072 missense probably damaging 1.00
R7117:Csf2rb2 UTSW 15 78285185 missense probably damaging 1.00
Posted On2012-12-06