Incidental Mutation 'IGL00979:Csf2rb'
ID29105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2rb
Ensembl Gene ENSMUSG00000071713
Gene Namecolony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
SynonymsCsf2rb1, 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 #IGL00979
Quality Score
Status
Chromosome15
Chromosomal Location78325752-78353847 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78348104 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 537 (V537E)
Ref Sequence ENSEMBL: ENSMUSP00000154836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096355] [ENSMUST00000229678] [ENSMUST00000230264]
Predicted Effect probably damaging
Transcript: ENSMUST00000096355
AA Change: V537E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: V537E

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 damaging
Transcript: ENSMUST00000230264
AA Change: V537E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,860,545 K84M probably damaging Het
A4gnt T A 9: 99,620,436 Y216* probably null Het
Abcb1b A G 5: 8,825,293 probably benign Het
Ankrd50 G A 3: 38,452,414 probably benign Het
Catsperb A G 12: 101,415,325 T89A probably benign Het
Ccdc15 C T 9: 37,316,490 S236N probably benign Het
Cd34 A C 1: 194,949,508 T151P possibly damaging Het
Col28a1 A T 6: 8,014,810 V865E probably damaging Het
Cux2 A G 5: 121,873,714 F553L probably damaging Het
Dolk A T 2: 30,284,731 L434Q probably damaging Het
Dsg2 C A 18: 20,582,767 D255E probably damaging Het
Endov T C 11: 119,500,618 V144A probably damaging Het
Grik2 T C 10: 49,355,938 N499D probably damaging Het
Hephl1 G T 9: 15,067,045 T855K probably benign Het
Hif1a A G 12: 73,942,010 D557G probably damaging Het
Idh1 G A 1: 65,171,149 T75I probably damaging Het
Ighv1-37 A G 12: 114,896,450 S47P probably benign Het
Irx4 A G 13: 73,268,222 probably benign Het
Itpr1 C T 6: 108,471,120 A1871V probably damaging Het
Klkb1 A G 8: 45,294,068 probably benign Het
Lrrc8e T C 8: 4,235,080 L435P probably damaging Het
Megf11 T A 9: 64,508,727 Y73N probably damaging Het
Nfe2 T C 15: 103,249,180 D128G probably damaging Het
Olfr1301 T A 2: 111,754,426 M59K probably damaging Het
Olfr535 A G 7: 140,492,701 E21G probably benign Het
Pak6 C A 2: 118,696,482 L653I probably damaging Het
Pde4dip T A 3: 97,747,758 probably benign Het
Pds5a A G 5: 65,631,723 V831A probably benign Het
Ppp1r32 T C 19: 10,474,499 *428W probably null Het
Prc1 G T 7: 80,307,696 probably null Het
Ptprs C T 17: 56,458,243 G14S probably damaging Het
Pygb A G 2: 150,819,913 K520E probably benign Het
Rimbp2 A G 5: 128,806,441 S92P probably benign Het
Samd4b A T 7: 28,414,213 L109Q probably damaging Het
Scn8a A T 15: 100,955,406 probably benign Het
Sdc3 A G 4: 130,818,680 I23V unknown Het
Sec61a2 A G 2: 5,872,020 Y350H possibly damaging Het
Slc4a3 A T 1: 75,554,247 Q759L probably damaging Het
Speg C T 1: 75,410,734 P1378L probably damaging Het
Spta1 T G 1: 174,208,390 Y1087* probably null Het
Tenm4 A G 7: 96,729,391 E401G probably damaging Het
Tom1 C A 8: 75,054,703 probably benign Het
Ttc3 T A 16: 94,456,718 V1273D probably damaging Het
Vmn2r106 G T 17: 20,277,575 D467E possibly damaging Het
Washc4 A T 10: 83,550,883 T124S probably benign Het
Zfp790 A G 7: 29,829,609 E573G probably benign Het
Other mutations in Csf2rb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Csf2rb APN 15 78348514 nonsense probably null
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
X0024:Csf2rb UTSW 15 78336360 missense probably damaging 1.00
X0028:Csf2rb UTSW 15 78349002 missense probably damaging 1.00
Posted On2013-04-17