Incidental Mutation 'IGL01465:Csf2ra'
ID 88088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2ra
Ensembl Gene ENSMUSG00000059326
Gene Name colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Synonyms GM-CSF-Ra, GM-CSFRalpha, Csfgmra, CD116
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01465
Quality Score
Status
Chromosome 19
Chromosomal Location 61212395-61216867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61214436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 243 (V243A)
Ref Sequence ENSEMBL: ENSMUSP00000075423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076046]
AlphaFold Q00941
Predicted Effect possibly damaging
Transcript: ENSMUST00000076046
AA Change: V243A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: V243A

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Csf2ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Csf2ra APN 19 61,215,271 (GRCm39) missense possibly damaging 0.87
IGL01693:Csf2ra APN 19 61,214,434 (GRCm39) missense possibly damaging 0.57
IGL02474:Csf2ra APN 19 61,214,975 (GRCm39) missense possibly damaging 0.95
IGL02950:Csf2ra APN 19 61,215,607 (GRCm39) missense probably benign 0.01
R0054:Csf2ra UTSW 19 61,215,035 (GRCm39) missense probably damaging 1.00
R0201:Csf2ra UTSW 19 61,214,006 (GRCm39) missense probably benign 0.14
R0452:Csf2ra UTSW 19 61,215,333 (GRCm39) missense probably benign 0.02
R1735:Csf2ra UTSW 19 61,214,782 (GRCm39) missense probably damaging 0.99
R2016:Csf2ra UTSW 19 61,215,331 (GRCm39) missense probably benign 0.01
R2157:Csf2ra UTSW 19 61,215,509 (GRCm39) missense probably benign 0.05
R3149:Csf2ra UTSW 19 61,215,758 (GRCm39) missense possibly damaging 0.83
R3150:Csf2ra UTSW 19 61,215,758 (GRCm39) missense possibly damaging 0.83
R4747:Csf2ra UTSW 19 61,214,491 (GRCm39) nonsense probably null
R4825:Csf2ra UTSW 19 61,214,990 (GRCm39) missense probably benign 0.10
R5580:Csf2ra UTSW 19 61,214,655 (GRCm39) missense probably damaging 1.00
R5831:Csf2ra UTSW 19 61,213,650 (GRCm39) missense probably damaging 1.00
R5887:Csf2ra UTSW 19 61,215,766 (GRCm39) missense possibly damaging 0.92
R7105:Csf2ra UTSW 19 61,213,458 (GRCm39) missense possibly damaging 0.61
R7123:Csf2ra UTSW 19 61,215,300 (GRCm39) missense probably damaging 1.00
R7419:Csf2ra UTSW 19 61,215,491 (GRCm39) missense possibly damaging 0.94
R7721:Csf2ra UTSW 19 61,215,024 (GRCm39) missense probably damaging 1.00
R8918:Csf2ra UTSW 19 61,214,721 (GRCm39) missense probably damaging 1.00
R8972:Csf2ra UTSW 19 61,213,597 (GRCm39) missense probably null 0.09
R9320:Csf2ra UTSW 19 61,215,280 (GRCm39) missense possibly damaging 0.68
R9686:Csf2ra UTSW 19 61,213,629 (GRCm39) missense probably damaging 1.00
Z1177:Csf2ra UTSW 19 61,213,591 (GRCm39) missense probably benign 0.03
Posted On 2013-11-18