Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Csf1r'

202874

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

039817-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61238644-61264211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61262149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 802 (M802L)

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: M802L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: M802L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: M802L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: M802L

Domain	Start	End	E-Value	Type
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

0.2736

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Abcc4	G	A	14: 118,790,761 (GRCm39)	R749C	probably damaging	Het
Acot11	T	C	4: 106,619,232 (GRCm39)	E201G	probably damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,371,439 (GRCm39)	V451A	probably benign	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Asb6	G	A	2: 30,717,088 (GRCm39)	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,748,781 (GRCm39)	F259S	probably damaging	Het
Cad	T	A	5: 31,215,416 (GRCm39)	F76I	probably damaging	Het
Camk2b	T	C	11: 5,927,880 (GRCm39)	E390G	probably benign	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,469,043 (GRCm39)	I197S	probably benign	Het
Ccn4	G	A	15: 66,778,338 (GRCm39)	C53Y	probably damaging	Het
Cdc20b	A	T	13: 113,217,668 (GRCm39)	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Cpd	T	C	11: 76,683,624 (GRCm39)	D1045G	probably benign	Het
Crocc	T	C	4: 140,749,113 (GRCm39)	D1564G	probably damaging	Het
Dctn4	T	C	18: 60,679,407 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,313,932 (GRCm39)	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 67,100,114 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,081,084 (GRCm39)	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537 (GRCm39)	H307L	probably damaging	Het
Foxn4	C	T	5: 114,401,193 (GRCm39)	D37N	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gm9797	T	C	10: 11,485,069 (GRCm39)		noncoding transcript	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Gper1	C	T	5: 139,412,477 (GRCm39)	P274L	probably damaging	Het
Gpr132	A	G	12: 112,816,023 (GRCm39)	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,472,128 (GRCm39)	M21T	probably benign	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,200,961 (GRCm39)	V465A	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Kmt2a	G	A	9: 44,730,972 (GRCm39)		probably benign	Het
Lhx6	G	T	2: 35,977,470 (GRCm39)	C327*	probably null	Het
Lifr	A	G	15: 7,211,337 (GRCm39)	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,598,066 (GRCm39)	V370A	probably benign	Het
Lman1	A	T	18: 66,124,653 (GRCm39)	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,738,729 (GRCm39)	L227*	probably null	Het
Ltv1	C	G	10: 13,058,280 (GRCm39)		probably benign	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mettl17	A	T	14: 52,126,192 (GRCm39)		probably benign	Het
Mnx1	T	A	5: 29,679,187 (GRCm39)	S299C	unknown	Het
Mov10	A	T	3: 104,725,432 (GRCm39)	I59N	possibly damaging	Het
Myo7b	T	C	18: 32,127,950 (GRCm39)	I581V	probably benign	Het
Ncdn	T	A	4: 126,639,066 (GRCm39)		probably null	Het
Ndufa4	A	T	6: 11,900,574 (GRCm39)	V37E	probably benign	Het
Nhsl1	T	G	10: 18,400,412 (GRCm39)	L546R	probably benign	Het
Nop9	T	C	14: 55,988,599 (GRCm39)	L347P	probably damaging	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,127,683 (GRCm39)		probably benign	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2z8	A	G	8: 72,812,280 (GRCm39)	Y252C	probably damaging	Het
Or8g53	A	T	9: 39,683,791 (GRCm39)	C102S	probably benign	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,160,523 (GRCm39)	V212A	probably damaging	Het
Pknox2	A	G	9: 36,820,980 (GRCm39)	V294A	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Ptgdr	A	T	14: 45,096,036 (GRCm39)	Y225*	probably null	Het
Ptpn22	A	G	3: 103,781,368 (GRCm39)	I90V	probably damaging	Het
Pygb	C	T	2: 150,658,692 (GRCm39)	T372I	probably damaging	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,332,275 (GRCm39)	G2307D	probably damaging	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Slfn9	T	A	11: 82,872,133 (GRCm39)	I868F	probably damaging	Het
St3gal6	T	C	16: 58,296,234 (GRCm39)	D137G	probably damaging	Het
Synj1	G	T	16: 90,761,405 (GRCm39)	A687D	probably damaging	Het
Syt4	A	G	18: 31,576,496 (GRCm39)		probably benign	Het
Tacc1	A	T	8: 25,654,509 (GRCm39)	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,935,724 (GRCm39)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,869,825 (GRCm39)	H148L	probably damaging	Het
Trappc8	A	G	18: 20,967,997 (GRCm39)		probably null	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ubr4	T	A	4: 139,151,256 (GRCm39)	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,298,788 (GRCm39)	L391P	probably damaging	Het
Uncx	T	C	5: 139,533,302 (GRCm39)	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,937 (GRCm39)	Y3004C	probably damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Zbtb46	C	T	2: 181,033,224 (GRCm39)	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 10,968,469 (GRCm39)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,474,392 (GRCm39)	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,639,429 (GRCm39)	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp503	A	T	14: 22,035,588 (GRCm39)	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het

Other mutations in Csf1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TGCATCTACTTCAACAGAGACC -3'
(R):5'- CATCCACTTTACAGGCAGGC -3'

Sequencing Primer
(F):5'- GAGACCCAAGACCTCCTGCTC -3'
(R):5'- AGTACCATGTCAGTCAAGGGCTC -3'

Posted On

2014-06-23