Incidental Mutation 'R9555:Csf1r'
ID 720730
Institutional Source Beutler Lab
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 # R9555 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 61238644-61264211 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61243473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 163 (I163N)
Ref Sequence ENSEMBL: ENSMUSP00000110923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025523] [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 possibly damaging
Transcript: ENSMUST00000025523
AA Change: I163N

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: I163N

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 possibly damaging
Transcript: ENSMUST00000115268
AA Change: I163N

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: I163N

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,947 (GRCm39) V259A probably benign Het
Abcd4 T C 12: 84,661,949 (GRCm39) I63V probably benign Het
Agps C A 2: 75,683,091 (GRCm39) P139T probably damaging Het
B130006D01Rik A T 11: 95,616,956 (GRCm39) H27L unknown Het
BC024139 A G 15: 76,005,359 (GRCm39) V501A possibly damaging Het
Cacul1 A T 19: 60,533,887 (GRCm39) Y238* probably null Het
Cep55 T C 19: 38,059,592 (GRCm39) probably null Het
Ddx3y G T Y: 1,265,895 (GRCm39) D367E probably benign Het
Ecpas T A 4: 58,879,083 (GRCm39) I69L possibly damaging Het
Epb41l4a A G 18: 34,009,966 (GRCm39) V213A possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klrb1a T C 6: 128,595,427 (GRCm39) E142G probably damaging Het
Lamb3 A T 1: 193,011,113 (GRCm39) I369F possibly damaging Het
Lig1 T C 7: 13,025,400 (GRCm39) V254A probably benign Het
Lrp1b T A 2: 40,741,693 (GRCm39) D3192V Het
Lrp1b T C 2: 40,748,438 (GRCm39) D3134G Het
Map1s T A 8: 71,367,236 (GRCm39) S714T probably benign Het
Marchf2 A G 17: 33,922,129 (GRCm39) L77P probably damaging Het
Nek8 A G 11: 78,067,390 (GRCm39) F15L probably benign Het
Or1s2 T A 19: 13,758,360 (GRCm39) I126N probably damaging Het
Pdzrn4 C T 15: 92,297,703 (GRCm39) R223C probably damaging Het
Per1 T A 11: 68,995,574 (GRCm39) V718D probably benign Het
Pik3ca A G 3: 32,505,916 (GRCm39) H676R probably damaging Het
Pla2g4e C A 2: 120,075,400 (GRCm39) probably benign Het
Proser1 A T 3: 53,378,876 (GRCm39) I103F possibly damaging Het
Pyroxd1 G A 6: 142,300,421 (GRCm39) A184T possibly damaging Het
Rin2 C T 2: 145,718,415 (GRCm39) Q632* probably null Het
Serpinb12 C T 1: 106,884,345 (GRCm39) H364Y probably damaging Het
Sfxn3 G A 19: 45,038,211 (GRCm39) E64K probably benign Het
Slc38a1 C T 15: 96,486,860 (GRCm39) V199M possibly damaging Het
Tep1 A G 14: 51,105,888 (GRCm39) I44T possibly damaging Het
Trip13 T A 13: 74,084,252 (GRCm39) T78S probably benign Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Usp28 A T 9: 48,952,736 (GRCm39) I1015F probably damaging Het
Vcan T C 13: 89,839,659 (GRCm39) T1962A Het
Vmn2r100 T A 17: 19,743,857 (GRCm39) S507T probably benign Het
Vmn2r91 C T 17: 18,325,792 (GRCm39) P137S possibly damaging Het
Zfp84 G T 7: 29,476,102 (GRCm39) V265F probably damaging 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
IGL03132:Csf1r APN 18 61,261,171 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- ACTCTTGGAATTTGCTGGCAC -3'
(R):5'- TGGTCAGAGTTCAACCCTGC -3'

Sequencing Primer
(F):5'- CAGGAGGTGACAGTGGTTG -3'
(R):5'- CCACTTGCCCTGGAGAGAAATG -3'
Posted On 2022-08-09