Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Csf1r'

662466

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

068616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R8726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61238644-61264211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61250728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 480 (T480S)

Ref Sequence

ENSEMBL: ENSMUSP00000025523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025523] [ENSMUST00000115268]

AlphaFold

P09581

Predicted Effect

probably benign
Transcript: ENSMUST00000025523
AA Change: T480S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: T480S

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: ENSMUST00000115268
AA Change: T480S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: T480S

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

0.1848

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,789,207 (GRCm39)	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,644,226 (GRCm39)	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 48,910,507 (GRCm39)	V642G	probably damaging	Het
Abcd4	A	T	12: 84,651,171 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,525,462 (GRCm39)	E363G	probably damaging	Het
Ank3	T	A	10: 69,823,084 (GRCm39)	H584Q		Het
Ankrd11	A	T	8: 123,620,765 (GRCm39)	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,490,641 (GRCm39)	V292I	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,821,450 (GRCm39)	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,532,905 (GRCm39)	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489 (GRCm39)		probably benign	Het
Camkk2	G	T	5: 122,882,002 (GRCm39)	D418E	probably benign	Het
Cntn3	A	T	6: 102,146,014 (GRCm39)	Y942*	probably null	Het
Col8a1	C	T	16: 57,449,138 (GRCm39)	R124H	probably damaging	Het
Coro7	T	C	16: 4,486,619 (GRCm39)	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747 (GRCm39)	P364S	probably benign	Het
Csnk1g1	T	A	9: 65,909,553 (GRCm39)	H223Q	probably damaging	Het
Ctns	C	T	11: 73,078,613 (GRCm39)	V171M	probably benign	Het
Dhx15	A	T	5: 52,311,568 (GRCm39)	N637K	probably benign	Het
Eif4g1	T	C	16: 20,494,232 (GRCm39)	Y103H	probably damaging	Het
Eif4g2	C	T	7: 110,676,629 (GRCm39)	R295H	probably damaging	Het
Fat1	C	T	8: 45,477,206 (GRCm39)	P2084L	probably benign	Het
Fat4	A	G	3: 39,064,647 (GRCm39)	R4868G	probably damaging	Het
Fbxo31	A	T	8: 122,282,014 (GRCm39)	Y295*	probably null	Het
Fmn2	C	A	1: 174,437,404 (GRCm39)	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,012,133 (GRCm39)	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,549,100 (GRCm39)	P131L	probably damaging	Het
Hrh2	T	C	13: 54,368,171 (GRCm39)	L49P	probably damaging	Het
Hycc2	T	C	1: 58,585,285 (GRCm39)	T171A	possibly damaging	Het
Igkv6-14	A	G	6: 70,412,125 (GRCm39)	V53A	possibly damaging	Het
Kcnb2	C	A	1: 15,780,876 (GRCm39)	Q583K	probably benign	Het
Kcns3	A	G	12: 11,141,692 (GRCm39)	S336P	probably damaging	Het
Kremen2	G	T	17: 23,961,720 (GRCm39)	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,764,577 (GRCm39)	C104*	probably null	Het
Ky	A	G	9: 102,405,102 (GRCm39)	Y199C	probably damaging	Het
L1td1	T	G	4: 98,622,215 (GRCm39)	L259R	probably damaging	Het
Lrba	A	G	3: 86,261,062 (GRCm39)	T1473A	probably benign	Het
Lrp6	A	T	6: 134,484,624 (GRCm39)	L333*	probably null	Het
Lrrc23	T	C	6: 124,753,043 (GRCm39)	N201S	probably benign	Het
Map4k4	C	A	1: 40,043,142 (GRCm39)	P666T	possibly damaging	Het
Matn1	T	A	4: 130,679,514 (GRCm39)	D389E	probably damaging	Het
Mdc1	G	T	17: 36,158,475 (GRCm39)	G285V	probably benign	Het
Mettl17	T	C	14: 52,128,187 (GRCm39)		probably null	Het
Mknk1	A	T	4: 115,730,506 (GRCm39)		probably benign	Het
Neurod1	A	T	2: 79,284,430 (GRCm39)	F318I	possibly damaging	Het
Nfya	T	C	17: 48,699,445 (GRCm39)	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,616,902 (GRCm39)	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,693,396 (GRCm39)	D245E	probably benign	Het
Nup160	C	A	2: 90,563,545 (GRCm39)	H1370Q	possibly damaging	Het
Or11h6	A	C	14: 50,880,703 (GRCm39)	K316Q	probably benign	Het
Or5w8	T	C	2: 87,688,161 (GRCm39)	V214A	probably benign	Het
Or6x1	T	A	9: 40,098,663 (GRCm39)	V84E	probably damaging	Het
Parp4	G	A	14: 56,866,556 (GRCm39)	R1040H	probably benign	Het
Pdia4	C	A	6: 47,785,200 (GRCm39)	E56*	probably null	Het
Pdia5	A	G	16: 35,269,784 (GRCm39)	F175S	probably damaging	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Pigw	T	C	11: 84,768,643 (GRCm39)	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,626,381 (GRCm39)	Y734C	probably benign	Het
Rfx7	T	A	9: 72,500,505 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,633,181 (GRCm39)	D178G	possibly damaging	Het
Ros1	A	G	10: 51,954,769 (GRCm39)	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,681,714 (GRCm39)	I139T	probably benign	Het
Sall3	T	C	18: 81,029,708 (GRCm39)	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,133,983 (GRCm39)	V137D	probably benign	Het
Slc23a3	G	A	1: 75,106,173 (GRCm39)	P349S	probably benign	Het
Slc35a5	C	G	16: 44,964,021 (GRCm39)	R404P	probably damaging	Het
Stard13	A	T	5: 150,986,607 (GRCm39)	M301K	probably benign	Het
Suclg2	A	G	6: 95,632,489 (GRCm39)	F60S	probably damaging	Het
Tecpr2	T	A	12: 110,904,668 (GRCm39)	F887L	possibly damaging	Het
Tekt4	G	T	17: 25,691,033 (GRCm39)	W113L	probably damaging	Het
Tep1	G	A	14: 51,085,080 (GRCm39)	S901F	probably damaging	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Thbs1	T	A	2: 117,949,957 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,040,295 (GRCm39)	V425D	probably damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Ttn	T	C	2: 76,729,301 (GRCm39)	Q5332R	unknown	Het
Wdr59	A	T	8: 112,223,466 (GRCm39)	D169E		Het
Zfp799	C	A	17: 33,039,166 (GRCm39)	G367C	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
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
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'- TGGAAGGGCATACTGATTCGG -3'
(R):5'- AGCTCTGTGGCTCAGGATTAG -3'

Sequencing Primer
(F):5'- GGCATACTGATTCGGGAGAC -3'
(R):5'- CTCAGGATTAGCCAGGGTGAC -3'

Posted On

2021-03-08