Incidental Mutation 'IGL01693:Csf2ra'
ID104186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2ra
Ensembl Gene ENSMUSG00000059326
Gene Namecolony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
SynonymsCsfgmra, CD116, GM-CSFRalpha, GM-CSF-Ra
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01693
Quality Score
Status
Chromosome19
Chromosomal Location61224402-61228418 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61225996 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
Ref Sequence ENSEMBL: ENSMUSP00000075423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076046]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076046
AA Change: S244P

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: S244P

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:IL6Ra-bind 129 223 5.2e-23 PFAM
FN3 226 311 9.19e-1 SMART
transmembrane domain 326 348 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Csf2ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Csf2ra APN 19 61226833 missense possibly damaging 0.87
IGL01465:Csf2ra APN 19 61225998 missense possibly damaging 0.95
IGL02474:Csf2ra APN 19 61226537 missense possibly damaging 0.95
IGL02950:Csf2ra APN 19 61227169 missense probably benign 0.01
R0054:Csf2ra UTSW 19 61226597 missense probably damaging 1.00
R0201:Csf2ra UTSW 19 61225568 missense probably benign 0.14
R0452:Csf2ra UTSW 19 61226895 missense probably benign 0.02
R1735:Csf2ra UTSW 19 61226344 missense probably damaging 0.99
R2016:Csf2ra UTSW 19 61226893 missense probably benign 0.01
R2157:Csf2ra UTSW 19 61227071 missense probably benign 0.05
R3149:Csf2ra UTSW 19 61227320 missense possibly damaging 0.83
R3150:Csf2ra UTSW 19 61227320 missense possibly damaging 0.83
R4747:Csf2ra UTSW 19 61226053 nonsense probably null
R4825:Csf2ra UTSW 19 61226552 missense probably benign 0.10
R5580:Csf2ra UTSW 19 61226217 missense probably damaging 1.00
R5831:Csf2ra UTSW 19 61225212 missense probably damaging 1.00
R5887:Csf2ra UTSW 19 61227328 missense possibly damaging 0.92
R7105:Csf2ra UTSW 19 61225020 missense possibly damaging 0.61
R7123:Csf2ra UTSW 19 61226862 missense probably damaging 1.00
R7419:Csf2ra UTSW 19 61227053 missense possibly damaging 0.94
R7721:Csf2ra UTSW 19 61226586 missense probably damaging 1.00
Z1177:Csf2ra UTSW 19 61225153 missense probably benign 0.03
Posted On2014-01-21