Incidental Mutation 'IGL02330:Csf2rb2'
ID288640
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 #IGL02330
Quality Score
Status
Chromosome15
Chromosomal Location78282507-78305721 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 78285128 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 500 (G500D)
Ref Sequence ENSEMBL: ENSMUSP00000155013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096356] [ENSMUST00000230115]
Predicted Effect probably benign
Transcript: ENSMUST00000096356
AA Change: G609D

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: G609D

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 noncoding transcript
Transcript: ENSMUST00000183491
Predicted Effect possibly damaging
Transcript: ENSMUST00000230115
AA Change: G500D

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230753
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 55,872,363 I352K probably benign Het
Atp8a1 T C 5: 67,813,177 N73S probably damaging Het
Cilp T C 9: 65,274,522 probably benign Het
Cyp4a14 A C 4: 115,495,027 probably benign Het
Dagla T G 19: 10,248,022 D926A probably damaging Het
Ddr2 T A 1: 169,988,524 Y538F probably damaging Het
Eng T A 2: 32,669,569 probably null Het
Fbxo24 G T 5: 137,621,317 L99M probably damaging Het
Fmn2 A G 1: 174,609,945 S1161G probably benign Het
Foxp1 T C 6: 98,945,412 N453D probably damaging Het
Fut8 A G 12: 77,450,243 D409G probably damaging Het
Hmces A G 6: 87,914,535 H8R probably damaging Het
Ing3 T C 6: 21,952,121 C44R probably benign Het
Itga1 T A 13: 115,012,204 I294F probably damaging Het
Mov10l1 T A 15: 89,026,490 S976T probably damaging Het
Myo15 A G 11: 60,477,161 Y249C possibly damaging Het
Nop56 T C 2: 130,276,766 S273P probably damaging Het
Olfr50 C T 2: 36,793,895 H220Y probably benign Het
Olfr514 A T 7: 108,825,999 probably benign Het
Otog C T 7: 46,288,069 S1734F possibly damaging Het
Phc3 T G 3: 30,936,381 E562D probably damaging Het
Ralb A T 1: 119,471,720 C203S probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Sf3b4 A T 3: 96,173,060 T42S possibly damaging Het
Sgsm2 T C 11: 74,858,667 T584A probably benign Het
Slco5a1 T C 1: 12,939,060 K397R probably damaging Het
Trim30c A G 7: 104,382,958 Y299H possibly damaging Het
Trip6 T C 5: 137,313,358 D119G probably benign Het
Uap1 A T 1: 170,150,327 I385N possibly damaging Het
Vmn1r123 T A 7: 21,163,044 I287N probably damaging Het
Vwce T C 19: 10,646,801 L352P possibly damaging Het
Xrn1 T A 9: 95,973,348 Y260* probably null Het
Zfp738 T C 13: 67,671,431 Y147C probably damaging Het
Other mutations in Csf2rb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Csf2rb2 APN 15 78284847 missense possibly damaging 0.78
IGL00765:Csf2rb2 APN 15 78292716 missense probably benign 0.17
IGL01383:Csf2rb2 APN 15 78297043 missense possibly damaging 0.90
IGL01975:Csf2rb2 APN 15 78288886 missense probably benign 0.01
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
R7423:Csf2rb2 UTSW 15 78292560 missense possibly damaging 0.65
R7453:Csf2rb2 UTSW 15 78285291 missense probably benign 0.14
R7705:Csf2rb2 UTSW 15 78284574 missense probably benign 0.02
R7788:Csf2rb2 UTSW 15 78292841 missense probably benign 0.12
R7849:Csf2rb2 UTSW 15 78284421 missense probably benign 0.09
R7851:Csf2rb2 UTSW 15 78288937 missense probably benign 0.10
R7932:Csf2rb2 UTSW 15 78284421 missense probably benign 0.09
R7934:Csf2rb2 UTSW 15 78288937 missense probably benign 0.10
R8057:Csf2rb2 UTSW 15 78285006 missense probably damaging 0.99
RF007:Csf2rb2 UTSW 15 78291926 missense probably benign 0.21
RF009:Csf2rb2 UTSW 15 78291927 missense probably benign 0.02
Posted On2015-04-16