Incidental Mutation 'IGL00565:Csf2rb'
ID 4076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2rb
Ensembl Gene ENSMUSG00000071713
Gene Name colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
Synonyms Csf2rb1, AIC2B, Il5rb, Bc, Il3rb1, beta c, Il3r, common beta chain, CDw131
Accession Numbers

Genbank: NM_007780; MGI: 1339759

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00565
Quality Score
Status
Chromosome 15
Chromosomal Location 78325752-78353847 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 78348514 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 674 (E674*)
Ref Sequence ENSEMBL: ENSMUSP00000154836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096355] [ENSMUST00000229678] [ENSMUST00000230264]
AlphaFold P26955
Predicted Effect probably null
Transcript: ENSMUST00000096355
AA Change: E674*
SMART Domains Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: E674*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCOP:d1gh7a1 29 130 6e-58 SMART
FN3 136 224 4.44e0 SMART
Blast:FN3 245 338 3e-24 BLAST
SCOP:d1gh7a3 245 338 2e-45 SMART
FN3 343 426 2.41e0 SMART
transmembrane domain 446 468 N/A INTRINSIC
low complexity region 716 743 N/A INTRINSIC
low complexity region 824 845 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183523
Predicted Effect probably benign
Transcript: ENSMUST00000229678
Predicted Effect probably null
Transcript: ENSMUST00000230264
AA Change: E674*
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers. [provided by MGI curators]
Allele List at MGI

 All alleles(7) : Targeted, knock-out(3) Targeted, other(4)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,625,572 T233K possibly damaging Het
Adamts9 A T 6: 92,859,902 M623K possibly damaging Het
Arid1a T G 4: 133,685,482 D1467A unknown Het
Cdhr2 A G 13: 54,718,299 D304G probably damaging Het
Cenpj C T 14: 56,553,030 V521I probably benign Het
Edaradd C T 13: 12,483,599 probably null Het
Emilin2 A G 17: 71,252,859 V1041A possibly damaging Het
Fam135b A G 15: 71,471,512 V418A probably benign Het
Fam96a A T 9: 66,132,616 I72L probably benign Het
Gnas T A 2: 174,341,711 probably benign Het
Grxcr1 A T 5: 68,032,197 N104Y possibly damaging Het
Gtf2a1l T A 17: 88,694,295 L146Q probably damaging Het
Hectd1 T A 12: 51,790,398 E791D probably damaging Het
Ifi203 A G 1: 173,937,740 probably null Het
Klk1b11 A G 7: 43,999,819 N260S probably damaging Het
Map4 A T 9: 110,072,604 probably benign Het
Marveld2 C T 13: 100,600,893 V163M possibly damaging Het
Med14 T C X: 12,746,764 probably benign Het
Mex3b A T 7: 82,868,908 I144F probably damaging Het
Oraov1 G T 7: 144,916,483 V50F probably damaging Het
Pde2a T A 7: 101,484,589 C92* probably null Het
Phf6 T A X: 52,931,639 Y103N probably damaging Het
Ptprt A G 2: 161,560,191 I1039T probably damaging Het
Rftn2 C A 1: 55,204,285 V275F probably damaging Het
Skap1 C A 11: 96,731,145 Q296K probably damaging Het
Skap1 T A 11: 96,731,190 F311I probably damaging Het
Tas2r115 A G 6: 132,737,778 I70T probably benign Het
Vav2 T C 2: 27,277,238 D613G probably benign Het
Wdr63 T C 3: 146,044,919 probably benign Het
Zranb3 T C 1: 128,016,140 E290G probably benign Het
Other mutations in Csf2rb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Csf2rb APN 15 78348104 missense probably damaging 1.00
IGL01613:Csf2rb APN 15 78335302 intron probably benign
IGL01724:Csf2rb APN 15 78336414 missense probably damaging 1.00
IGL01942:Csf2rb APN 15 78340492 missense probably benign
IGL02479:Csf2rb APN 15 78341724 nonsense probably null
3-1:Csf2rb UTSW 15 78344603 missense probably damaging 1.00
IGL02802:Csf2rb UTSW 15 78338903 missense probably benign 0.00
R0133:Csf2rb UTSW 15 78339004 unclassified probably benign
R0179:Csf2rb UTSW 15 78336372 missense possibly damaging 0.52
R0487:Csf2rb UTSW 15 78348331 missense probably benign 0.00
R1544:Csf2rb UTSW 15 78340755 missense probably benign 0.02
R1619:Csf2rb UTSW 15 78335211 missense probably damaging 0.99
R1690:Csf2rb UTSW 15 78348644 missense probably benign 0.11
R1831:Csf2rb UTSW 15 78348253 missense probably benign 0.03
R3970:Csf2rb UTSW 15 78341467 missense probably benign
R4922:Csf2rb UTSW 15 78346467 missense probably benign 0.02
R5151:Csf2rb UTSW 15 78340581 missense probably damaging 1.00
R5202:Csf2rb UTSW 15 78349057 missense possibly damaging 0.51
R5398:Csf2rb UTSW 15 78348620 missense probably benign
R5496:Csf2rb UTSW 15 78340561 missense probably damaging 1.00
R5786:Csf2rb UTSW 15 78348955 missense probably damaging 1.00
R6166:Csf2rb UTSW 15 78344566 missense probably damaging 1.00
R6347:Csf2rb UTSW 15 78345552 missense probably damaging 0.99
R6350:Csf2rb UTSW 15 78345552 missense probably damaging 0.99
R6899:Csf2rb UTSW 15 78340702 missense probably benign 0.01
R6984:Csf2rb UTSW 15 78345519 missense probably damaging 1.00
R7484:Csf2rb UTSW 15 78338899 missense possibly damaging 0.53
R7671:Csf2rb UTSW 15 78338930 missense probably damaging 1.00
R7751:Csf2rb UTSW 15 78341639 missense probably damaging 1.00
R7781:Csf2rb UTSW 15 78344571 missense probably benign 0.00
R7861:Csf2rb UTSW 15 78349157 missense probably damaging 1.00
R8135:Csf2rb UTSW 15 78348119 missense possibly damaging 0.95
R8154:Csf2rb UTSW 15 78340442 critical splice acceptor site probably null
R8299:Csf2rb UTSW 15 78346469 missense possibly damaging 0.88
R8315:Csf2rb UTSW 15 78347381 missense possibly damaging 0.83
R8926:Csf2rb UTSW 15 78340549 missense probably benign
R8948:Csf2rb UTSW 15 78348320 missense probably benign 0.05
R8950:Csf2rb UTSW 15 78348320 missense probably benign 0.05
R9265:Csf2rb UTSW 15 78348546 missense probably benign 0.08
X0024:Csf2rb UTSW 15 78336360 missense probably damaging 1.00
X0028:Csf2rb UTSW 15 78349002 missense probably damaging 1.00
Posted On 2012-04-20