Incidental Mutation 'R5314:Csf1r'
ID 405775
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 042897-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R5314 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61238644-61264211 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61262796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 857 (I857N)
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 damaging
Transcript: ENSMUST00000025523
AA Change: I857N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: I857N

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 damaging
Transcript: ENSMUST00000115268
AA Change: I857N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: I857N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,473,172 (GRCm39) F109S unknown Het
Ankhd1 A T 18: 36,694,111 (GRCm39) probably null Het
Atp8a1 C T 5: 67,863,248 (GRCm39) probably null Het
Ccdc136 G T 6: 29,417,497 (GRCm39) V707F probably benign Het
Ccdc157 A T 11: 4,100,078 (GRCm39) C91* probably null Het
Ceacam3 T A 7: 16,892,296 (GRCm39) N346K possibly damaging Het
Cfap251 A G 5: 123,460,626 (GRCm39) D1196G probably benign Het
Chd4 A G 6: 125,077,551 (GRCm39) E74G probably damaging Het
Cntn1 A G 15: 92,192,892 (GRCm39) M665V probably benign Het
Crtc2 C T 3: 90,168,348 (GRCm39) Q364* probably null Het
Dner C T 1: 84,558,460 (GRCm39) G168D probably damaging Het
Edar T C 10: 58,443,182 (GRCm39) T315A probably benign Het
Egflam A G 15: 7,333,493 (GRCm39) V153A probably damaging Het
Enoph1 T C 5: 100,211,682 (GRCm39) I193T possibly damaging Het
Epc1 A G 18: 6,462,969 (GRCm39) I9T probably damaging Het
Fbxw18 T A 9: 109,522,246 (GRCm39) I208F possibly damaging Het
Gm4841 A G 18: 60,403,364 (GRCm39) V243A probably benign Het
Herc2 T C 7: 55,869,534 (GRCm39) V4297A probably damaging Het
Itsn2 C T 12: 4,677,960 (GRCm39) P106S probably benign Het
Kcnu1 A G 8: 26,352,486 (GRCm39) T218A probably damaging Het
Kif1a A G 1: 92,946,220 (GRCm39) S1677P probably damaging Het
Krt14 A T 11: 100,095,526 (GRCm39) M293K probably damaging Het
Meis3 T A 7: 15,917,989 (GRCm39) V307E probably damaging Het
Nadk2 A C 15: 9,108,401 (GRCm39) I417L probably benign Het
Nav2 AAGCAGCAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCAGCAGCA 7: 49,058,440 (GRCm39) probably benign Het
Neb A T 2: 52,171,515 (GRCm39) N1659K probably benign Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or10w1 T C 19: 13,632,630 (GRCm39) V274A probably benign Het
Or8g32 T C 9: 39,305,785 (GRCm39) S233P probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pde3b A T 7: 114,093,772 (GRCm39) N339Y probably damaging Het
Pde8b A G 13: 95,223,361 (GRCm39) F298L possibly damaging Het
Phtf1 G A 3: 103,906,603 (GRCm39) R606H probably damaging Het
Psd4 A G 2: 24,290,528 (GRCm39) D535G possibly damaging Het
Rad51ap1 A G 6: 126,905,121 (GRCm39) V130A probably damaging Het
Rbm11 T C 16: 75,393,474 (GRCm39) F57L probably damaging Het
Rprd2 A G 3: 95,671,401 (GRCm39) V1334A possibly damaging Het
Satb2 T C 1: 56,870,686 (GRCm39) E433G probably damaging Het
Sema6b G A 17: 56,435,413 (GRCm39) R277* probably null Het
Sepsecs A T 5: 52,805,015 (GRCm39) S349T probably benign Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Slc7a2 T C 8: 41,368,067 (GRCm39) probably null Het
Smc1b T A 15: 84,955,066 (GRCm39) Y1062F probably benign Het
Snrnp70 G A 7: 45,026,476 (GRCm39) R298* probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Taar8c A T 10: 23,977,246 (GRCm39) C189S probably damaging Het
Tas1r2 T A 4: 139,382,672 (GRCm39) D103E probably damaging Het
Timd2 T C 11: 46,568,087 (GRCm39) I236V probably benign Het
Tmem87a A G 2: 120,208,407 (GRCm39) V316A probably damaging Het
Treml2 T A 17: 48,607,601 (GRCm39) L16Q probably damaging Het
Zcchc14 G A 8: 122,335,337 (GRCm39) probably benign Het
Zfp462 T C 4: 55,013,178 (GRCm39) Y567H probably damaging Het
Zfp551 G A 7: 12,150,087 (GRCm39) R441* probably null Het
Zfp930 A G 8: 69,679,373 (GRCm39) I59M 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
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
Predicted Primers PCR Primer
(F):5'- GATGTCGGTGTCCAAGACAGAG -3'
(R):5'- TTGTACACAGAGACCAGGGC -3'

Sequencing Primer
(F):5'- TGAGGGCTCTTGAACCAGTAC -3'
(R):5'- GGGCCATGCACTCTTCCAAC -3'
Posted On 2016-07-22