Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Csf1r'

597982

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

045818-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R7762 (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 61243572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 196 (N196I)

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: N196I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: N196I

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: N196I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: N196I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	G	14: 103,288,776 (GRCm39)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,429,209 (GRCm39)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,742,114 (GRCm39)	S653T	probably benign	Het
Aoc1l2	G	A	6: 48,909,620 (GRCm39)	V622I	probably benign	Het
Aox1	C	T	1: 58,388,263 (GRCm39)	P1124S	probably damaging	Het
Armh3	A	G	19: 45,928,882 (GRCm39)		probably null	Het
Atp4a	T	C	7: 30,419,461 (GRCm39)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Btbd2	T	A	10: 80,479,390 (GRCm39)	I516F	probably damaging	Het
Card6	A	G	15: 5,134,820 (GRCm39)	S128P	probably benign	Het
Cat	T	C	2: 103,287,203 (GRCm39)	K476E	probably benign	Het
Ccr9	A	T	9: 123,609,022 (GRCm39)	T235S	probably benign	Het
Cep55	T	G	19: 38,057,517 (GRCm39)		probably null	Het
Clec2e	A	G	6: 129,072,091 (GRCm39)	F96S	possibly damaging	Het
Clk2	G	A	3: 89,074,498 (GRCm39)	V53I	probably benign	Het
Clnk	T	C	5: 38,925,484 (GRCm39)	M106V	probably benign	Het
Col6a5	T	C	9: 105,808,523 (GRCm39)	I842V	unknown	Het
D5Ertd579e	A	T	5: 36,770,725 (GRCm39)	N116K		Het
Dnaja4	A	G	9: 54,616,494 (GRCm39)	I166V	probably benign	Het
Dqx1	A	G	6: 83,038,013 (GRCm39)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm39)	T1760A	probably benign	Het
Eea1	T	C	10: 95,864,301 (GRCm39)	V940A	probably benign	Het
Egr1	T	A	18: 34,996,598 (GRCm39)	V460E	probably damaging	Het
Eral1	A	G	11: 77,965,359 (GRCm39)	I352T	possibly damaging	Het
F2	T	C	2: 91,459,041 (GRCm39)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,399,714 (GRCm39)	V463A	possibly damaging	Het
Fat1	T	A	8: 45,490,374 (GRCm39)	L3762H	probably damaging	Het
Fat1	T	C	8: 45,476,359 (GRCm39)	S1802P	probably damaging	Het
Fibp	A	T	19: 5,514,202 (GRCm39)	N296Y	probably benign	Het
Figla	A	G	6: 85,994,308 (GRCm39)	M28V	probably benign	Het
Foxd3	C	A	4: 99,545,362 (GRCm39)	Y167*	probably null	Het
Gm17019	T	A	5: 15,081,006 (GRCm39)	H145L	probably benign	Het
Gm48552	C	T	10: 81,226,269 (GRCm39)	P18L	probably damaging	Het
H2-Q6	A	G	17: 35,647,077 (GRCm39)	N283S	probably benign	Het
Hrh2	T	A	13: 54,368,058 (GRCm39)	C11*	probably null	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Iapp	C	A	6: 142,249,122 (GRCm39)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,258,184 (GRCm39)	N837S	probably benign	Het
Klhl35	C	A	7: 99,117,647 (GRCm39)	H64N	probably benign	Het
Lcor	T	C	19: 41,572,106 (GRCm39)	L287S	probably benign	Het
Lrba	T	A	3: 86,439,508 (GRCm39)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm39)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,315,058 (GRCm39)	T376K	possibly damaging	Het
Muc21	G	A	17: 35,932,977 (GRCm39)	T403I	unknown	Het
Nbea	A	T	3: 55,557,126 (GRCm39)	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,663,630 (GRCm39)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,065,243 (GRCm39)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,480,167 (GRCm39)	C460S	probably benign	Het
Or1j19	A	T	2: 36,677,022 (GRCm39)	I162F	probably benign	Het
Or1s2	A	T	19: 13,758,650 (GRCm39)	R223W	probably damaging	Het
Or2g7	G	A	17: 38,378,566 (GRCm39)	C168Y	probably damaging	Het
Or2y10	T	A	11: 49,455,588 (GRCm39)	I280N	possibly damaging	Het
Or4b1b	T	A	2: 90,126,975 (GRCm39)	K77*	probably null	Het
Or6c33	A	G	10: 129,853,050 (GRCm39)		probably benign	Het
Or8d1b	G	A	9: 38,887,490 (GRCm39)	V173I	probably benign	Het
Orai3	G	A	7: 127,372,743 (GRCm39)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,568,977 (GRCm39)	V41G	probably damaging	Het
Plec	A	T	15: 76,067,823 (GRCm39)	L1194Q	unknown	Het
Pml	C	A	9: 58,127,456 (GRCm39)	C763F	probably damaging	Het
Prdm15	T	A	16: 97,619,473 (GRCm39)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,415,906 (GRCm39)	T473N	probably benign	Het
Sbno1	T	A	5: 124,512,729 (GRCm39)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,610,113 (GRCm39)	D269N	probably damaging	Het
Serpina9	A	T	12: 103,967,575 (GRCm39)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,116,898 (GRCm39)	Y319F	probably benign	Het
Sgo2b	A	T	8: 64,379,531 (GRCm39)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,236,754 (GRCm39)		probably null	Het
Shh	T	G	5: 28,671,664 (GRCm39)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,747,371 (GRCm39)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,190,864 (GRCm39)		probably null	Het
Tbx2	A	G	11: 85,726,727 (GRCm39)	E257G	probably damaging	Het
Tenm2	G	A	11: 35,914,133 (GRCm39)	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 51,018,575 (GRCm39)	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,631,760 (GRCm39)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,975,411 (GRCm39)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,145,048 (GRCm39)	K711N	probably benign	Het
Vcan	G	T	13: 89,841,056 (GRCm39)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,371,845 (GRCm39)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,211,720 (GRCm39)		probably null	Het
Vwa3b	A	C	1: 37,163,126 (GRCm39)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,953,254 (GRCm39)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,315,409 (GRCm39)	F1356I	probably benign	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
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'- AGTGTCTCACTGATGCGTG -3'
(R):5'- TATAGAGGTCTCCCTACCGTGAG -3'

Sequencing Primer
(F):5'- CTCACTGATGCGTGAGGGG -3'
(R):5'- CGTGAGGATTTCTATGCCAAATGC -3'

Posted On

2019-11-26