Incidental Mutation 'IGL00765:Csf2rb2'
ID 9908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2rb2
Ensembl Gene ENSMUSG00000071714
Gene Name colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage)
Synonyms Bil3, BetaIl3, Il3rb2, AIC2A, Il3r
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00765
Quality Score
Status
Chromosome 15
Chromosomal Location 78166707-78189921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78176916 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P26954
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: 14,229,372 (GRCm39) T368I probably damaging Het
Bub1 T A 2: 127,671,392 (GRCm39) N64I probably damaging Het
Ccdc97 A G 7: 25,414,277 (GRCm39) L159P probably damaging Het
Chrnd T C 1: 87,123,431 (GRCm39) V214A probably damaging Het
Dmxl2 A G 9: 54,322,706 (GRCm39) probably benign Het
Eif3e A T 15: 43,141,745 (GRCm39) M55K probably benign Het
Ercc6l2 T C 13: 63,996,586 (GRCm39) V365A possibly damaging Het
Fndc1 A G 17: 7,991,525 (GRCm39) S724P unknown Het
Htt T C 5: 35,034,769 (GRCm39) probably benign Het
Ints4 C T 7: 97,184,412 (GRCm39) T839I probably damaging Het
Lrp6 T G 6: 134,518,817 (GRCm39) T83P probably benign Het
Lrrc8d C T 5: 105,959,818 (GRCm39) T76I possibly damaging Het
Nae1 T C 8: 105,244,582 (GRCm39) probably benign Het
Nlrp14 T C 7: 106,789,346 (GRCm39) V45A possibly damaging Het
Nrp2 C A 1: 62,743,410 (GRCm39) S16* probably null Het
Nup155 T C 15: 8,182,712 (GRCm39) I1225T probably benign Het
Pnpla7 G T 2: 24,870,236 (GRCm39) A43S probably damaging Het
Prcp T C 7: 92,582,307 (GRCm39) S431P probably benign Het
Rbck1 A G 2: 152,172,874 (GRCm39) probably benign Het
Smg8 T C 11: 86,968,867 (GRCm39) E963G probably damaging Het
Tanc1 A C 2: 59,636,645 (GRCm39) M836L probably benign Het
Tnpo1 A G 13: 98,986,612 (GRCm39) probably benign Het
Other mutations in Csf2rb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Csf2rb2 APN 15 78,169,047 (GRCm39) missense possibly damaging 0.78
IGL01383:Csf2rb2 APN 15 78,181,243 (GRCm39) missense possibly damaging 0.90
IGL01975:Csf2rb2 APN 15 78,173,086 (GRCm39) missense probably benign 0.01
IGL02330:Csf2rb2 APN 15 78,169,328 (GRCm39) missense possibly damaging 0.85
IGL02365:Csf2rb2 APN 15 78,171,260 (GRCm39) missense possibly damaging 0.92
IGL02756:Csf2rb2 APN 15 78,169,049 (GRCm39) missense possibly damaging 0.95
R0269:Csf2rb2 UTSW 15 78,173,065 (GRCm39) missense probably benign 0.09
R0462:Csf2rb2 UTSW 15 78,169,373 (GRCm39) missense probably damaging 1.00
R0540:Csf2rb2 UTSW 15 78,172,108 (GRCm39) missense probably benign 0.00
R0607:Csf2rb2 UTSW 15 78,172,108 (GRCm39) missense probably benign 0.00
R0636:Csf2rb2 UTSW 15 78,176,160 (GRCm39) nonsense probably null
R0782:Csf2rb2 UTSW 15 78,170,951 (GRCm39) missense probably damaging 0.98
R1387:Csf2rb2 UTSW 15 78,182,414 (GRCm39) missense probably damaging 0.99
R1799:Csf2rb2 UTSW 15 78,181,268 (GRCm39) missense probably damaging 1.00
R1881:Csf2rb2 UTSW 15 78,176,735 (GRCm39) splice site probably null
R2079:Csf2rb2 UTSW 15 78,172,207 (GRCm39) missense probably benign 0.13
R2108:Csf2rb2 UTSW 15 78,176,744 (GRCm39) missense probably damaging 0.99
R2359:Csf2rb2 UTSW 15 78,176,976 (GRCm39) missense probably benign 0.39
R4614:Csf2rb2 UTSW 15 78,175,902 (GRCm39) missense probably damaging 1.00
R4806:Csf2rb2 UTSW 15 78,169,490 (GRCm39) missense probably benign 0.11
R4900:Csf2rb2 UTSW 15 78,170,174 (GRCm39) splice site probably null
R5206:Csf2rb2 UTSW 15 78,176,952 (GRCm39) missense probably benign
R5270:Csf2rb2 UTSW 15 78,176,182 (GRCm39) splice site probably null
R5427:Csf2rb2 UTSW 15 78,173,111 (GRCm39) missense probably damaging 1.00
R6633:Csf2rb2 UTSW 15 78,173,152 (GRCm39) missense probably benign 0.00
R7067:Csf2rb2 UTSW 15 78,176,694 (GRCm39) missense probably damaging 1.00
R7102:Csf2rb2 UTSW 15 78,181,272 (GRCm39) missense probably damaging 1.00
R7117:Csf2rb2 UTSW 15 78,169,385 (GRCm39) missense probably damaging 1.00
R7423:Csf2rb2 UTSW 15 78,176,760 (GRCm39) missense possibly damaging 0.65
R7453:Csf2rb2 UTSW 15 78,169,491 (GRCm39) missense probably benign 0.14
R7705:Csf2rb2 UTSW 15 78,168,774 (GRCm39) missense probably benign 0.02
R7788:Csf2rb2 UTSW 15 78,177,041 (GRCm39) missense probably benign 0.12
R7849:Csf2rb2 UTSW 15 78,168,621 (GRCm39) missense probably benign 0.09
R7851:Csf2rb2 UTSW 15 78,173,137 (GRCm39) missense probably benign 0.10
R8057:Csf2rb2 UTSW 15 78,169,206 (GRCm39) missense probably damaging 0.99
R8405:Csf2rb2 UTSW 15 78,172,093 (GRCm39) missense possibly damaging 0.85
R8406:Csf2rb2 UTSW 15 78,171,216 (GRCm39) missense probably benign 0.00
R8857:Csf2rb2 UTSW 15 78,178,613 (GRCm39) missense probably null 0.00
R8972:Csf2rb2 UTSW 15 78,172,115 (GRCm39) missense probably benign
R9262:Csf2rb2 UTSW 15 78,168,535 (GRCm39) missense probably damaging 1.00
R9311:Csf2rb2 UTSW 15 78,176,735 (GRCm39) splice site probably null
R9343:Csf2rb2 UTSW 15 78,171,287 (GRCm39) intron probably benign
R9478:Csf2rb2 UTSW 15 78,168,965 (GRCm39) missense probably benign 0.00
R9713:Csf2rb2 UTSW 15 78,176,730 (GRCm39) missense possibly damaging 0.78
R9789:Csf2rb2 UTSW 15 78,169,196 (GRCm39) missense probably benign 0.06
RF007:Csf2rb2 UTSW 15 78,176,126 (GRCm39) missense probably benign 0.21
RF009:Csf2rb2 UTSW 15 78,176,127 (GRCm39) missense probably benign 0.02
Posted On 2012-12-06