Incidental Mutation 'IGL03132:Csf1r'
ID 410365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf1r
Ensembl Gene ENSMUSG00000024621
Gene Name colony stimulating factor 1 receptor
Synonyms Csfmr, Fms, CSF-1R, Fim2, Fim-2, M-CSFR, CD115
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # IGL03132
Quality Score
Status
Chromosome 18
Chromosomal Location 61238644-61264211 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61261171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 749 (E749G)
Ref Sequence ENSEMBL: ENSMUSP00000110923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025523] [ENSMUST00000091884] [ENSMUST00000115268]
AlphaFold P09581
PDB Structure Structure of M-CSF bound to the first three domains of FMS [X-RAY DIFFRACTION]
Structure of mouse Interleukin-34 in complex with mouse FMS [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025523
AA Change: E749G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: E749G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 27 102 4.63e-8 SMART
IG 112 196 7.82e-6 SMART
IGc2 215 285 1.36e-5 SMART
IG 308 397 3.2e-2 SMART
IG_like 402 504 1.8e2 SMART
transmembrane domain 513 535 N/A INTRINSIC
TyrKc 580 908 1.45e-134 SMART
low complexity region 926 954 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091884
SMART Domains Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622

DomainStartEndE-ValueType
HMG 40 110 6.8e-15 SMART
low complexity region 182 194 N/A INTRINSIC
internal_repeat_1 307 336 1.98e-9 PROSPERO
internal_repeat_1 583 612 1.98e-9 PROSPERO
low complexity region 817 830 N/A INTRINSIC
low complexity region 966 977 N/A INTRINSIC
low complexity region 1239 1254 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115268
AA Change: E749G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: E749G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 27 102 4.63e-8 SMART
IG 112 196 7.82e-6 SMART
IGc2 215 285 1.36e-5 SMART
IG 308 397 3.2e-2 SMART
IG_like 402 504 1.8e2 SMART
transmembrane domain 513 535 N/A INTRINSIC
TyrKc 580 908 1.45e-134 SMART
low complexity region 926 954 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 receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,815,941 (GRCm39) R177C probably benign Het
Adam21 C A 12: 81,607,148 (GRCm39) G205* probably null Het
Baz2b T A 2: 59,738,097 (GRCm39) probably benign Het
Col6a3 C T 1: 90,731,615 (GRCm39) G939D probably damaging Het
Dnm3 C T 1: 161,838,674 (GRCm39) probably null Het
Dsg3 A G 18: 20,657,653 (GRCm39) D241G probably damaging Het
Dst T C 1: 34,295,722 (GRCm39) S6015P probably benign Het
Dvl2 T C 11: 69,896,514 (GRCm39) S183P probably benign Het
Exoc6b T C 6: 84,768,246 (GRCm39) N699S possibly damaging Het
Fat2 T C 11: 55,144,746 (GRCm39) R4043G probably benign Het
Gbp9 T A 5: 105,232,819 (GRCm39) T278S possibly damaging Het
Gm2a T A 11: 54,994,474 (GRCm39) I48N probably damaging Het
Gorasp2 T C 2: 70,514,379 (GRCm39) V232A probably benign Het
Gpa33 G A 1: 165,980,218 (GRCm39) D94N probably benign Het
Il1rap A T 16: 26,498,869 (GRCm39) S123C probably damaging Het
Kctd17 T C 15: 78,319,887 (GRCm39) S102P probably damaging Het
Lamb1 A G 12: 31,350,333 (GRCm39) probably null Het
Mfsd1 T A 3: 67,495,273 (GRCm39) I131K possibly damaging Het
Pkhd1l1 G A 15: 44,438,013 (GRCm39) C3576Y probably damaging Het
Pla2g4a A T 1: 149,778,035 (GRCm39) probably benign Het
Ptpn11 T A 5: 121,272,878 (GRCm39) D575V possibly damaging Het
Reck A T 4: 43,938,898 (GRCm39) R755* probably null Het
Scgb2b21 A G 7: 33,219,299 (GRCm39) V35A possibly damaging Het
Srpra G A 9: 35,125,574 (GRCm39) probably null Het
Stk11ip T C 1: 75,512,733 (GRCm39) S1025P probably benign Het
Tmprss9 G A 10: 80,730,699 (GRCm39) V742M probably damaging Het
Trh T C 6: 92,220,755 (GRCm39) T36A probably benign Het
Trim35 A G 14: 66,546,595 (GRCm39) E454G probably damaging Het
Vmn2r99 C T 17: 19,598,485 (GRCm39) Q170* probably null Het
Other mutations in Csf1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Csf1r APN 18 61,247,897 (GRCm39) missense probably benign 0.08
IGL01603:Csf1r APN 18 61,262,373 (GRCm39) missense probably damaging 1.00
IGL02377:Csf1r APN 18 61,257,540 (GRCm39) splice site probably benign
IGL03000:Csf1r APN 18 61,242,724 (GRCm39) missense probably damaging 0.97
IGL03011:Csf1r APN 18 61,243,473 (GRCm39) missense probably benign 0.00
IGL03189:Csf1r APN 18 61,239,058 (GRCm39) missense probably benign 0.05
IGL03224:Csf1r APN 18 61,245,134 (GRCm39) missense probably damaging 0.96
IGL03351:Csf1r APN 18 61,250,180 (GRCm39) nonsense probably null
ANU74:Csf1r UTSW 18 61,250,463 (GRCm39) missense probably benign 0.09
R1245:Csf1r UTSW 18 61,247,884 (GRCm39) missense probably benign
R1363:Csf1r UTSW 18 61,257,917 (GRCm39) missense possibly damaging 0.95
R1651:Csf1r UTSW 18 61,243,473 (GRCm39) missense possibly damaging 0.64
R1785:Csf1r UTSW 18 61,262,149 (GRCm39) missense probably damaging 0.98
R1786:Csf1r UTSW 18 61,262,149 (GRCm39) missense probably damaging 0.98
R1902:Csf1r UTSW 18 61,263,213 (GRCm39) missense probably damaging 0.99
R1968:Csf1r UTSW 18 61,245,867 (GRCm39) missense probably benign 0.00
R2177:Csf1r UTSW 18 61,248,015 (GRCm39) splice site probably benign
R3743:Csf1r UTSW 18 61,247,846 (GRCm39) missense probably benign 0.01
R3809:Csf1r UTSW 18 61,245,836 (GRCm39) missense probably benign 0.22
R4374:Csf1r UTSW 18 61,252,078 (GRCm39) missense probably damaging 0.99
R4683:Csf1r UTSW 18 61,257,983 (GRCm39) missense probably damaging 1.00
R4973:Csf1r UTSW 18 61,262,119 (GRCm39) missense probably damaging 1.00
R5080:Csf1r UTSW 18 61,257,373 (GRCm39) missense probably damaging 1.00
R5314:Csf1r UTSW 18 61,262,796 (GRCm39) missense probably damaging 1.00
R5936:Csf1r UTSW 18 61,258,880 (GRCm39) missense probably damaging 1.00
R6015:Csf1r UTSW 18 61,242,784 (GRCm39) missense possibly damaging 0.50
R6227:Csf1r UTSW 18 61,258,900 (GRCm39) nonsense probably null
R6505:Csf1r UTSW 18 61,262,805 (GRCm39) missense probably damaging 1.00
R6602:Csf1r UTSW 18 61,243,497 (GRCm39) missense possibly damaging 0.81
R6811:Csf1r UTSW 18 61,252,125 (GRCm39) missense probably damaging 1.00
R6813:Csf1r UTSW 18 61,245,806 (GRCm39) missense probably benign
R7218:Csf1r UTSW 18 61,263,396 (GRCm39) missense probably damaging 1.00
R7480:Csf1r UTSW 18 61,250,610 (GRCm39) missense probably benign 0.06
R7752:Csf1r UTSW 18 61,243,368 (GRCm39) missense probably damaging 1.00
R7762:Csf1r UTSW 18 61,243,572 (GRCm39) missense probably benign 0.01
R7901:Csf1r UTSW 18 61,243,368 (GRCm39) missense probably damaging 1.00
R7953:Csf1r UTSW 18 61,257,947 (GRCm39) missense probably damaging 1.00
R7986:Csf1r UTSW 18 61,247,904 (GRCm39) missense probably benign 0.00
R8012:Csf1r UTSW 18 61,250,136 (GRCm39) missense possibly damaging 0.86
R8043:Csf1r UTSW 18 61,257,947 (GRCm39) missense probably damaging 1.00
R8296:Csf1r UTSW 18 61,250,750 (GRCm39) missense probably damaging 1.00
R8355:Csf1r UTSW 18 61,261,222 (GRCm39) missense probably damaging 1.00
R8371:Csf1r UTSW 18 61,250,663 (GRCm39) missense probably benign 0.26
R8421:Csf1r UTSW 18 61,260,966 (GRCm39) missense probably damaging 1.00
R8493:Csf1r UTSW 18 61,247,954 (GRCm39) missense probably damaging 0.98
R8726:Csf1r UTSW 18 61,250,728 (GRCm39) missense probably benign 0.17
R8786:Csf1r UTSW 18 61,247,942 (GRCm39) missense probably damaging 0.98
R9262:Csf1r UTSW 18 61,243,406 (GRCm39) missense probably benign 0.00
R9555:Csf1r UTSW 18 61,243,473 (GRCm39) missense possibly damaging 0.64
R9627:Csf1r UTSW 18 61,260,972 (GRCm39) missense probably damaging 1.00
R9778:Csf1r UTSW 18 61,260,957 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02