Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Csf1r'

523823

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

044637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61238644-61264211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61262805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 860 (N860S)

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: N860S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: N860S

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: N860S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: N860S

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

0.5477

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,220,772 (GRCm39)	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,285,115 (GRCm39)	A8V	probably benign	Het
Ago1	G	A	4: 126,357,628 (GRCm39)	P16S	probably benign	Het
Ak5	C	T	3: 152,187,306 (GRCm39)	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,660,068 (GRCm39)	Y498C	probably damaging	Het
Alox12	T	A	11: 70,141,030 (GRCm39)	D335V	probably damaging	Het
Alx4	A	T	2: 93,498,904 (GRCm39)	Y212F	probably damaging	Het
Asb16	A	G	11: 102,167,303 (GRCm39)	E223G	probably damaging	Het
Atg9b	C	T	5: 24,595,575 (GRCm39)	V235M	probably damaging	Het
BB014433	A	G	8: 15,092,304 (GRCm39)	V183A	probably benign	Het
Brca1	T	A	11: 101,414,367 (GRCm39)	M1256L	probably benign	Het
Bst1	A	G	5: 43,977,932 (GRCm39)	I94V	probably benign	Het
C3ar1	A	G	6: 122,827,599 (GRCm39)	L206P	probably benign	Het
Cabs1	T	A	5: 88,128,522 (GRCm39)	M391K	possibly damaging	Het
Cars1	C	T	7: 143,118,744 (GRCm39)	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,760,592 (GRCm39)	Y73*	probably null	Het
Cd177	A	C	7: 24,443,671 (GRCm39)	L809W	probably benign	Het
Cemip	C	A	7: 83,600,805 (GRCm39)	G939*	probably null	Het
Clca3b	T	A	3: 144,531,020 (GRCm39)	I777F	probably benign	Het
Cma2	T	C	14: 56,211,236 (GRCm39)	I176T	probably damaging	Het
Col12a1	T	A	9: 79,554,887 (GRCm39)	T2064S	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dennd4b	A	G	3: 90,174,918 (GRCm39)	E50G	probably damaging	Het
Dis3l	A	T	9: 64,214,795 (GRCm39)	S925T	probably benign	Het
Disp1	T	C	1: 182,868,076 (GRCm39)	N1448S	probably benign	Het
Dpp10	T	C	1: 123,264,580 (GRCm39)	I747M	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephx4	A	T	5: 107,551,522 (GRCm39)	K36*	probably null	Het
Fam135a	C	T	1: 24,053,953 (GRCm39)	V1195I	probably damaging	Het
Fap	A	T	2: 62,376,947 (GRCm39)	Y234*	probably null	Het
Fem1c	A	T	18: 46,638,942 (GRCm39)	N353K	possibly damaging	Het
Furin	C	A	7: 80,043,365 (GRCm39)	R282L	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,568,828 (GRCm39)	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,031,379 (GRCm39)	T15S	probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Il18r1	A	T	1: 40,528,867 (GRCm39)	I304L	probably benign	Het
Ino80	A	T	2: 119,281,922 (GRCm39)	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,395,507 (GRCm39)	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,236,744 (GRCm39)	M435T	probably benign	Het
Kcnh4	T	C	11: 100,647,911 (GRCm39)	N151D	probably benign	Het
Lama3	T	C	18: 12,628,405 (GRCm39)	M1499T	probably benign	Het
Lamb1	A	T	12: 31,373,461 (GRCm39)	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,664,211 (GRCm39)	R239*	probably null	Het
Map2k4	A	T	11: 65,584,355 (GRCm39)	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,873,768 (GRCm39)	F784S	probably damaging	Het
Mrgpra9	T	A	7: 46,884,884 (GRCm39)	N260I	probably benign	Het
Mrnip	C	A	11: 50,090,679 (GRCm39)	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,808,501 (GRCm39)	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,269,184 (GRCm39)	I406T	possibly damaging	Het
Neto1	A	G	18: 86,516,699 (GRCm39)	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,104,025 (GRCm39)	D541G	probably damaging	Het
Nuak2	C	A	1: 132,244,132 (GRCm39)	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,582,439 (GRCm39)	T118A	probably benign	Het
Or11i1	T	G	3: 106,729,638 (GRCm39)	N79T	possibly damaging	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or51af1	T	A	7: 103,141,858 (GRCm39)	T76S	probably damaging	Het
Or52e19	C	A	7: 102,959,000 (GRCm39)	A24D	probably benign	Het
Or5d16	A	T	2: 87,773,518 (GRCm39)	Y151*	probably null	Het
Or5p59	T	C	7: 107,702,774 (GRCm39)	V86A	probably benign	Het
Or6d13	C	T	6: 116,517,561 (GRCm39)	T49M	probably benign	Het
Or7a40	A	T	16: 16,491,784 (GRCm39)	D20E	probably benign	Het
Or7g29	T	C	9: 19,286,237 (GRCm39)	*313W	probably null	Het
Pcdhb5	T	A	18: 37,453,933 (GRCm39)	H104Q	probably benign	Het
Phf11a	T	C	14: 59,514,986 (GRCm39)	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,383,615 (GRCm39)	T478I	probably benign	Het
Prkacb	T	A	3: 146,438,401 (GRCm39)	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,957,776 (GRCm39)	D221E	probably damaging	Het
Prr11	T	A	11: 86,996,950 (GRCm39)	K5*	probably null	Het
Prrc2b	G	A	2: 32,112,332 (GRCm39)	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,822,147 (GRCm39)	Q233*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sash1	C	G	10: 8,605,291 (GRCm39)	G1033A	probably benign	Het
Sncaip	C	A	18: 53,039,609 (GRCm39)	S189*	probably null	Het
Sorl1	T	C	9: 41,982,530 (GRCm39)	Y350C	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Speg	C	A	1: 75,406,167 (GRCm39)	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 59,994,144 (GRCm39)	D224V	probably benign	Het
Tg	G	A	15: 66,631,407 (GRCm39)	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,861,502 (GRCm39)	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,920 (GRCm39)	C278Y	probably damaging	Het
Togaram1	T	C	12: 65,013,364 (GRCm39)	I205T	possibly damaging	Het
Usp19	T	A	9: 108,374,082 (GRCm39)	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,489,824 (GRCm39)	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,364,983 (GRCm39)	S475P	probably 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
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
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'- ATGGTGAGGGCTCTTGAACC -3'
(R):5'- CTCAATGCAATGAAGATGGAAACC -3'

Sequencing Primer
(F):5'- GCAGCACCTGTGTGTAATTCAGAC -3'
(R):5'- GATGGAAACCTGGCTCTAGCAC -3'

Posted On

2018-06-22