Incidental Mutation 'R1902:Csf1r'
ID 212417
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 039922-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R1902 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61238644-61264211 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61263213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 896 (T896A)
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: T896A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: T896A

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: T896A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: T896A

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: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.7%
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: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,584,004 (GRCm39) Q355* probably null Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adra1a T C 14: 66,875,684 (GRCm39) S220P probably benign Het
Ano2 A T 6: 125,849,647 (GRCm39) E126D probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap45 C A 10: 79,861,300 (GRCm39) Q488K probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Atxn7l3b A G 10: 112,764,578 (GRCm39) I17T probably benign Het
Bpifb9a A T 2: 154,103,911 (GRCm39) N118I probably benign Het
Btbd9 A T 17: 30,749,202 (GRCm39) D37E probably damaging Het
C8a T C 4: 104,713,798 (GRCm39) probably null Het
Capn13 G A 17: 73,633,356 (GRCm39) S535F probably damaging Het
Carns1 G T 19: 4,216,337 (GRCm39) P615Q probably damaging Het
Casz1 T C 4: 149,020,652 (GRCm39) I479T possibly damaging Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Cdc42bpb T G 12: 111,292,450 (GRCm39) S362R probably damaging Het
Ceacam11 A T 7: 17,709,252 (GRCm39) H150L probably benign Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Cpeb1 T C 7: 81,021,867 (GRCm39) D92G probably benign Het
Cped1 T A 6: 22,120,980 (GRCm39) probably null Het
Csf3r T C 4: 125,936,711 (GRCm39) F658S probably damaging Het
Cts6 A T 13: 61,349,329 (GRCm39) Y126* probably null Het
Cul7 T C 17: 46,966,666 (GRCm39) L365P probably damaging Het
Cxcl5 T C 5: 90,907,644 (GRCm39) V72A probably damaging Het
Cyp4v3 T A 8: 45,759,989 (GRCm39) H521L probably benign Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnai1 A T 4: 41,625,319 (GRCm39) K428* probably null Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
E2f8 T C 7: 48,520,920 (GRCm39) H467R probably benign Het
Eddm3b T A 14: 51,354,321 (GRCm39) I103N probably damaging Het
Gal3st2c T G 1: 93,936,611 (GRCm39) N185K probably damaging Het
Ganc T C 2: 120,276,963 (GRCm39) L675P probably damaging Het
Garin3 A T 11: 46,297,838 (GRCm39) T381S probably benign Het
Gdf9 G A 11: 53,327,780 (GRCm39) M245I probably benign Het
Gm21886 G A 18: 80,132,633 (GRCm39) T175I probably damaging Het
Gria2 A G 3: 80,629,415 (GRCm39) L269P probably damaging Het
Grm8 T C 6: 27,429,481 (GRCm39) Y471C probably damaging Het
Gucy2g T A 19: 55,198,669 (GRCm39) T825S probably benign Het
H2-T13 A T 17: 36,394,845 (GRCm39) M16K probably damaging Het
Iffo2 T C 4: 139,335,012 (GRCm39) S124P probably damaging Het
Igf1r T C 7: 67,850,997 (GRCm39) Y931H possibly damaging Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Il23r A C 6: 67,400,718 (GRCm39) D537E probably benign Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Itgb4 T C 11: 115,871,564 (GRCm39) V179A probably damaging Het
Itpr2 T A 6: 146,131,201 (GRCm39) H1968L probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif13a A T 13: 46,941,638 (GRCm39) D946E probably benign Het
Klhl22 T A 16: 17,589,651 (GRCm39) I104N probably damaging Het
Klk6 A C 7: 43,475,481 (GRCm39) M1L probably benign Het
Krt78 A T 15: 101,855,398 (GRCm39) C804* probably null Het
Larp7 A T 3: 127,334,227 (GRCm39) N533K probably damaging Het
Lrit3 T C 3: 129,584,895 (GRCm39) T288A probably benign Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Lrp1b T C 2: 40,750,673 (GRCm39) S2964G probably damaging Het
Lrrc66 C T 5: 73,764,965 (GRCm39) V693M probably damaging Het
Macf1 T A 4: 123,364,958 (GRCm39) M3268L probably benign Het
Mad1l1 A G 5: 140,289,443 (GRCm39) S161P possibly damaging Het
Mettl25 A G 10: 105,661,948 (GRCm39) S341P probably damaging Het
Morc3 A G 16: 93,667,385 (GRCm39) T588A probably damaging Het
Mospd3 A G 5: 137,598,677 (GRCm39) S21P probably damaging Het
Mrpl57 T A 14: 58,064,186 (GRCm39) F71L probably damaging Het
Mtbp T C 15: 55,470,111 (GRCm39) L594S probably damaging Het
Mthfd2 T C 6: 83,283,713 (GRCm39) N323S probably damaging Het
Muc5b G T 7: 141,417,842 (GRCm39) S3596I possibly damaging Het
Mug1 A G 6: 121,858,780 (GRCm39) D1166G probably benign Het
Nav1 T G 1: 135,400,148 (GRCm39) N474T probably benign Het
Ncoa1 A T 12: 4,389,049 (GRCm39) D75E possibly damaging Het
Ncor1 A C 11: 62,228,984 (GRCm39) I958S probably damaging Het
Nefm T C 14: 68,361,563 (GRCm39) S234G probably benign Het
Nlrp4c T C 7: 6,068,818 (GRCm39) S240P probably damaging Het
Nox3 C T 17: 3,720,292 (GRCm39) V298M probably damaging Het
Ntn4 A G 10: 93,543,234 (GRCm39) D320G possibly damaging Het
Nudt13 C G 14: 20,360,709 (GRCm39) T174R probably damaging Het
Odr4 T A 1: 150,264,360 (GRCm39) probably null Het
Opn1sw T A 6: 29,379,803 (GRCm39) N144Y possibly damaging Het
Or10al3 T A 17: 38,012,312 (GRCm39) H250Q probably damaging Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or1l8 T C 2: 36,817,197 (GRCm39) I310V probably benign Het
Or2a52 T A 6: 43,144,657 (GRCm39) probably null Het
Or4a72 A T 2: 89,405,947 (GRCm39) L41Q possibly damaging Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or5g25 T C 2: 85,478,201 (GRCm39) S155G possibly damaging Het
Or6c216 G T 10: 129,678,375 (GRCm39) P179T probably benign Het
Or6n2 T C 1: 173,897,692 (GRCm39) V276A probably damaging Het
Or8g4 T C 9: 39,662,102 (GRCm39) V140A probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Parp14 C T 16: 35,673,888 (GRCm39) probably null Het
Pde3a C A 6: 141,444,496 (GRCm39) N1101K probably benign Het
Plcb1 G A 2: 134,655,533 (GRCm39) V38I possibly damaging Het
Plec T A 15: 76,059,751 (GRCm39) E3417D probably damaging Het
Ppfibp2 C T 7: 107,345,585 (GRCm39) P869L probably damaging Het
Ppp1r12a T A 10: 108,034,752 (GRCm39) I99N probably damaging Het
Pramel5 G A 4: 144,000,433 (GRCm39) Q48* probably null Het
Prr13 C A 15: 102,369,133 (GRCm39) probably benign Het
Psg22 T A 7: 18,458,363 (GRCm39) Y312* probably null Het
Ptchd4 A T 17: 42,814,507 (GRCm39) I803L probably benign Het
Rasa4 A G 5: 136,120,092 (GRCm39) D56G probably benign Het
Rif1 T A 2: 52,006,685 (GRCm39) N2206K possibly damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Sh3pxd2b T C 11: 32,373,559 (GRCm39) *909Q probably null Het
Slc25a45 A G 19: 5,934,550 (GRCm39) R173G probably damaging Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Smoc1 T C 12: 81,151,445 (GRCm39) I54T probably benign Het
Spef2 G T 15: 9,607,463 (GRCm39) R1319S probably damaging Het
Steap3 T G 1: 120,169,464 (GRCm39) I240L probably benign Het
Stmn4 C T 14: 66,593,058 (GRCm39) L13F probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Syt3 T C 7: 44,039,940 (GRCm39) S58P possibly damaging Het
Tas2r125 T C 6: 132,887,139 (GRCm39) F176L probably benign Het
Tbc1d19 T A 5: 53,986,695 (GRCm39) C35S probably benign Het
Tcaf3 T C 6: 42,570,486 (GRCm39) E422G possibly damaging Het
Tekt4 T A 17: 25,690,832 (GRCm39) F46Y possibly damaging Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Tubgcp6 C A 15: 89,000,444 (GRCm39) R307L possibly damaging Het
Tyro3 T C 2: 119,632,176 (GRCm39) I81T possibly damaging Het
Upp2 T G 2: 58,661,464 (GRCm39) M71R probably damaging Het
Utp20 G T 10: 88,588,888 (GRCm39) T2427K probably benign Het
Vcl T A 14: 21,032,767 (GRCm39) L122Q probably damaging Het
Vmn1r213 A C 13: 23,196,476 (GRCm39) N353T possibly damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zfp869 T C 8: 70,160,088 (GRCm39) K162E 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
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
Predicted Primers PCR Primer
(F):5'- TTCCATCTTCATTGCATTGAGG -3'
(R):5'- AGGTTAGCATAGTCCTGGGG -3'

Sequencing Primer
(F):5'- CAAGCATGCTAACAGGTGCTGTATC -3'
(R):5'- CATAGTCCTGGGGTGGGGAG -3'
Posted On 2014-06-30