Incidental Mutation 'R8786:Csf1r'
ID 670673
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
MMRRC Submission 068632-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R8786 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 61238644-61264211 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61247942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 337 (T337S)
Ref Sequence ENSEMBL: ENSMUSP00000025523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025523] [ENSMUST00000115268]
AlphaFold P09581
Predicted Effect probably damaging
Transcript: ENSMUST00000025523
AA Change: T337S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: T337S

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 damaging
Transcript: ENSMUST00000115268
AA Change: T337S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: T337S

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A T 3: 95,592,784 (GRCm39) M1K probably null Het
Atg2a G T 19: 6,294,460 (GRCm39) V59L probably damaging Het
Atxn7 C A 14: 14,103,316 (GRCm38) T888K possibly damaging Het
Btbd9 T C 17: 30,749,144 (GRCm39) R57G probably damaging Het
Catspere2 T A 1: 177,843,362 (GRCm39) probably benign Het
Catspere2 G A 1: 177,843,555 (GRCm39) probably benign Het
Ccdc9b C A 2: 118,587,732 (GRCm39) S534I unknown Het
Crp T C 1: 172,526,293 (GRCm39) V126A probably benign Het
Dcaf12 T C 4: 41,296,439 (GRCm39) N299S probably damaging Het
Dcaf17 T C 2: 70,917,744 (GRCm39) probably null Het
Dip2c A G 13: 9,665,830 (GRCm39) D985G probably damaging Het
Dtna A G 18: 23,716,190 (GRCm39) T138A probably benign Het
Emid1 T C 11: 5,081,517 (GRCm39) D212G probably benign Het
Epyc G A 10: 97,511,525 (GRCm39) D173N probably damaging Het
Fanci A G 7: 79,052,298 (GRCm39) D162G probably benign Het
Firrm A T 1: 163,792,040 (GRCm39) L626Q probably damaging Het
Fry T C 5: 150,317,501 (GRCm39) V827A probably benign Het
Ggps1 T C 13: 14,228,505 (GRCm39) E226G probably benign Het
Gopc G A 10: 52,230,750 (GRCm39) R183* probably null Het
Grik4 C T 9: 42,453,130 (GRCm39) G752S probably damaging Het
H2-D1 T A 17: 35,482,844 (GRCm39) C125S probably damaging Het
H2-Q1 T A 17: 35,539,869 (GRCm39) V46D probably damaging Het
Hsd17b3 T C 13: 64,219,862 (GRCm39) N126S probably damaging Het
Igsf10 G A 3: 59,238,063 (GRCm39) T706I probably benign Het
Kmt2e A G 5: 23,669,864 (GRCm39) D117G probably damaging Het
Kmt5a C T 5: 124,584,074 (GRCm39) A18V probably benign Het
Krtap29-1 C T 11: 99,869,465 (GRCm39) G139R probably damaging Het
Lama5 T C 2: 179,838,100 (GRCm39) Y872C probably damaging Het
Lrriq4 T A 3: 30,704,752 (GRCm39) M260K probably benign Het
Map2 G A 1: 66,472,755 (GRCm39) probably benign Het
Mrpl51 C T 6: 125,169,340 (GRCm39) A8V probably benign Het
Ndufs3 T C 2: 90,732,778 (GRCm39) T103A probably benign Het
Numa1 T G 7: 101,647,616 (GRCm39) L449R probably benign Het
Or10g3b C T 14: 52,587,021 (GRCm39) A161T possibly damaging Het
Pan3 C T 5: 147,424,951 (GRCm39) P295S possibly damaging Het
Pds5b T C 5: 150,704,134 (GRCm39) S846P probably damaging Het
Phf2 A T 13: 48,967,219 (GRCm39) M712K unknown Het
Phlda2 A T 7: 143,056,211 (GRCm39) V6E probably benign Het
Pkdrej C A 15: 85,704,044 (GRCm39) A631S probably benign Het
Plcd3 G T 11: 102,962,569 (GRCm39) N627K probably damaging Het
Prpf6 T C 2: 181,262,415 (GRCm39) I138T possibly damaging Het
Psd4 G A 2: 24,295,444 (GRCm39) S866N probably benign Het
Ptprb A C 10: 116,155,306 (GRCm39) T400P probably benign Het
Rxfp1 T C 3: 79,570,677 (GRCm39) probably null Het
Sbf2 A G 7: 110,063,793 (GRCm39) probably null Het
Serpinb9h G A 13: 33,588,204 (GRCm39) R263H probably benign Het
Setd4 C T 16: 93,390,162 (GRCm39) R89Q probably benign Het
Sgpp1 A G 12: 75,763,152 (GRCm39) I343T probably benign Het
Sh2b2 T C 5: 136,260,658 (GRCm39) D186G probably benign Het
Slc12a4 A T 8: 106,680,549 (GRCm39) I191N probably damaging Het
Slc4a4 A T 5: 89,232,549 (GRCm39) D251V probably benign Het
Slc6a5 A T 7: 49,561,843 (GRCm39) D125V possibly damaging Het
Slf1 T A 13: 77,274,806 (GRCm39) I16F possibly damaging Het
Sncaip T C 18: 53,031,334 (GRCm39) V521A probably damaging Het
Spmip10 T C 18: 56,727,568 (GRCm39) F89L probably damaging Het
Stx19 T C 16: 62,642,775 (GRCm39) L197P probably damaging Het
Sucla2 A G 14: 73,797,905 (GRCm39) N39D probably benign Het
Sult1d1 T A 5: 87,712,575 (GRCm39) T90S probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r138 A G 6: 40,589,611 (GRCm39) S212P probably damaging Het
Tdrd3 T A 14: 87,709,637 (GRCm39) C106* probably null Het
Tlk2 C T 11: 105,172,059 (GRCm39) A743V unknown Het
Tlr3 T C 8: 45,851,286 (GRCm39) D537G possibly damaging Het
Tmc1 A G 19: 20,803,953 (GRCm39) Y375H probably damaging Het
Tsen54 T A 11: 115,711,498 (GRCm39) M305K probably damaging Het
Umod C T 7: 119,076,581 (GRCm39) V62M possibly damaging Het
Vmn1r10 A G 6: 57,091,010 (GRCm39) T201A probably benign Het
Vmn1r103 T C 7: 20,243,676 (GRCm39) T262A probably benign Het
Vmn2r100 T C 17: 19,742,838 (GRCm39) V404A probably damaging Het
Vmn2r56 A G 7: 12,449,393 (GRCm39) F282L probably damaging Het
Wdr64 A T 1: 175,636,327 (GRCm39) K982* probably null Het
Xpo6 A T 7: 125,712,127 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CATAGATGTGCTCAGACCCTGC -3'
(R):5'- GCACCTCCCAGAAATGGTAG -3'

Sequencing Primer
(F):5'- TGGTCCAGTGAACACGTG -3'
(R):5'- CCTCCCAGAAATGGTAGAGTAGCTG -3'
Posted On 2021-04-30