Incidental Mutation 'R2177:Csf1r'
| ID |
236970 |
| 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 |
040179-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R2177 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61238644-61264211 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 61248015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025523]
[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 benign
Transcript: ENSMUST00000025523
|
| SMART Domains |
Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
| 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 |
noncoding transcript
Transcript: ENSMUST00000183458
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,952,346 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
T |
C |
18: 59,087,626 (GRCm39) |
L552P |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
| Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
| Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
| AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
| Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
| Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
| Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,099,057 (GRCm39) |
I429F |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,164,905 (GRCm39) |
S459P |
probably damaging |
Het |
| Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
| Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
| Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
| Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
| Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
| Me3 |
A |
C |
7: 89,282,278 (GRCm39) |
T54P |
probably benign |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
| Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
| Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
| Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
| Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
| Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
| Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
| Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
| Ulk2 |
T |
A |
11: 61,682,335 (GRCm39) |
T727S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
| Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
| Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
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 |
|
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'- ATCTCCTGCGTTGATTTCCAGAG -3'
(R):5'- CACGGTCATTTCCTACATTGGC -3'
Sequencing Primer
(F):5'- TGATTTCCAGAGAGTGCCTAC -3'
(R):5'- TTCCTACATTGGCCATAACGAGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation