Incidental Mutation 'IGL02756:Csf2rb2'
ID306458
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 #IGL02756
Quality Score
Status
Chromosome15
Chromosomal Location78282507-78305721 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78284849 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 593 (E593G)
Ref Sequence ENSEMBL: ENSMUSP00000155013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096356] [ENSMUST00000230115]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096356
AA Change: E702G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: E702G

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: E593G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,165,108 D54V probably damaging Het
Adamts18 C A 8: 113,714,344 probably benign Het
Angptl3 T A 4: 99,031,162 L53Q probably damaging Het
Apc A G 18: 34,314,535 T1461A probably damaging Het
Arl11 T A 14: 61,311,086 V115D probably damaging Het
Cabp4 C A 19: 4,138,561 V173L possibly damaging Het
Casq1 T A 1: 172,215,105 D230V probably damaging Het
Cdc42bpa A G 1: 180,109,259 I821V possibly damaging Het
Cfap65 T C 1: 74,905,080 Y1494C probably benign Het
Chd1 T A 17: 15,730,807 S215T probably damaging Het
Cstf1 A G 2: 172,375,875 D136G probably damaging Het
Ddx19b T C 8: 111,011,278 probably benign Het
Dido1 A T 2: 180,661,923 L1396Q probably benign Het
Ermn A G 2: 58,047,812 I263T probably damaging Het
F12 T A 13: 55,421,067 Q294L possibly damaging Het
Far2 A T 6: 148,157,391 I192F probably damaging Het
Fshb T A 2: 107,058,873 I29F probably damaging Het
Gcgr T A 11: 120,536,985 Y251N probably benign Het
Gpr158 A G 2: 21,827,079 I997V possibly damaging Het
Gprc5d A G 6: 135,116,615 V98A probably damaging Het
H2-T23 T C 17: 36,031,688 E186G probably damaging Het
Khdrbs3 C T 15: 69,024,836 T115I probably benign Het
Kifap3 C T 1: 163,862,028 T527M probably damaging Het
Mfsd2a C T 4: 122,948,539 A512T probably benign Het
Mmp9 A G 2: 164,949,315 D135G probably benign Het
Mylk T C 16: 34,963,646 V1394A probably benign Het
Nek9 A C 12: 85,311,336 probably null Het
Olfr1008 T C 2: 85,690,058 S210P probably damaging Het
Olfr638 T C 7: 104,003,659 I128T probably damaging Het
P2rx2 T A 5: 110,342,410 probably benign Het
P4htm A G 9: 108,579,778 L410P probably damaging Het
Pik3c2a A T 7: 116,364,513 W921R probably benign Het
Pnisr T C 4: 21,862,175 F288L probably benign Het
Ppp4r3a C T 12: 101,058,323 probably null Het
Prss34 T C 17: 25,299,277 S144P probably damaging Het
Qrsl1 T C 10: 43,882,114 T328A probably benign Het
Rab33b A T 3: 51,484,524 T65S probably damaging Het
Rdh8 A G 9: 20,825,341 S235G possibly damaging Het
Rrp12 T C 19: 41,896,061 K6R probably benign Het
Sec24a T C 11: 51,696,733 D1025G probably benign Het
Sgo2a T G 1: 58,016,350 N564K probably damaging Het
Slc43a3 A T 2: 84,944,268 M130L probably benign Het
Soat1 T C 1: 156,446,575 I89V probably benign Het
St3gal5 A G 6: 72,149,173 D307G probably null Het
Stxbp3-ps C T 19: 9,557,829 noncoding transcript Het
Tacr2 A G 10: 62,261,690 probably benign Het
Tg C T 15: 66,734,586 T193I probably benign Het
Tnik A G 3: 28,542,030 T191A probably damaging Het
Trim27 T C 13: 21,190,086 probably benign Het
Usf2 A T 7: 30,946,992 C134* probably null Het
Usp14 A G 18: 10,001,769 probably null Het
Usp47 T C 7: 112,093,063 S911P possibly damaging Het
Vmn1r73 T A 7: 11,756,647 S131T possibly damaging Het
Vmn2r80 T C 10: 79,194,311 I657T probably damaging Het
Zfp935 A T 13: 62,454,887 C166* probably null 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
IGL02330:Csf2rb2 APN 15 78285128 missense possibly damaging 0.85
IGL02365:Csf2rb2 APN 15 78287060 missense possibly damaging 0.92
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
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