Incidental Mutation 'R3705:Csf3r'
| ID |
258693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csf3r
|
| Ensembl Gene |
ENSMUSG00000028859 |
| Gene Name |
colony stimulating factor 3 receptor |
| Synonyms |
Csfgr, G-CSFR, Cd114 |
| MMRRC Submission |
040698-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R3705 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125926078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 221
(D221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000106162]
|
| AlphaFold |
P40223 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030673
AA Change: D221G
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lep_receptor_Ig
|
24 |
111 |
2.3e-30 |
PFAM |
|
FN3
|
124 |
213 |
5.38e1 |
SMART |
|
SCOP:d1cd9b2
|
226 |
332 |
3e-15 |
SMART |
|
Blast:FN3
|
334 |
420 |
3e-30 |
BLAST |
|
FN3
|
432 |
518 |
2.41e0 |
SMART |
|
FN3
|
530 |
612 |
1.92e-3 |
SMART |
|
transmembrane domain
|
627 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106162
AA Change: D221G
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lep_receptor_Ig
|
22 |
112 |
6.8e-30 |
PFAM |
|
FN3
|
124 |
213 |
5.38e1 |
SMART |
|
SCOP:d1cd9b2
|
226 |
332 |
3e-15 |
SMART |
|
Blast:FN3
|
334 |
420 |
3e-30 |
BLAST |
|
FN3
|
432 |
518 |
2.41e0 |
SMART |
|
FN3
|
530 |
612 |
1.92e-3 |
SMART |
|
transmembrane domain
|
627 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153968
|
| Meta Mutation Damage Score |
0.2701 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (46/46) |
| 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 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral neutrophils, with fewer hematopoietic progenitors in bone marrow and impaired expansion and terminal differentiation of progenitors into granulocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,324,864 (GRCm39) |
D1538G |
probably damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,607,020 (GRCm39) |
V2566I |
possibly damaging |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Fam133b |
T |
C |
5: 3,611,034 (GRCm39) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
| Grm1 |
G |
A |
10: 10,658,473 (GRCm39) |
T339I |
possibly damaging |
Het |
| Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,862,416 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,040,705 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,418,781 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,896,147 (GRCm39) |
N1473S |
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,134,166 (GRCm39) |
K423E |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,961,341 (GRCm39) |
S584P |
probably damaging |
Het |
| Nipal4 |
T |
C |
11: 46,052,678 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,931,300 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,948 (GRCm39) |
S150P |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,362,412 (GRCm39) |
I12V |
probably benign |
Het |
| Pdgfc |
T |
C |
3: 81,111,751 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
T |
9: 44,605,691 (GRCm39) |
H1323N |
probably damaging |
Het |
| Ppp1r14c |
A |
G |
10: 3,373,524 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,345 (GRCm39) |
T209A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,183,030 (GRCm39) |
V414E |
probably damaging |
Het |
| Riok3 |
A |
G |
18: 12,282,011 (GRCm39) |
M327V |
probably benign |
Het |
| Sf3b4 |
T |
C |
3: 96,083,944 (GRCm39) |
|
probably benign |
Het |
| Spag6 |
A |
G |
2: 18,715,368 (GRCm39) |
Y49C |
probably damaging |
Het |
| Syngap1 |
T |
C |
17: 27,178,994 (GRCm39) |
S495P |
probably damaging |
Het |
| Tedc2 |
A |
G |
17: 24,435,361 (GRCm39) |
S343P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,959,153 (GRCm39) |
D1132V |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Top1 |
G |
A |
2: 160,544,744 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
| Tph2 |
G |
A |
10: 114,955,798 (GRCm39) |
Q332* |
probably null |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
|
| Other mutations in Csf3r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02059:Csf3r
|
APN |
4 |
125,925,920 (GRCm39) |
nonsense |
probably null |
|
|
IGL02224:Csf3r
|
APN |
4 |
125,937,332 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02558:Csf3r
|
APN |
4 |
125,931,928 (GRCm39) |
splice site |
probably benign |
|
|
R0026:Csf3r
|
UTSW |
4 |
125,925,677 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0033:Csf3r
|
UTSW |
4 |
125,925,677 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0033:Csf3r
|
UTSW |
4 |
125,925,677 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0121:Csf3r
|
UTSW |
4 |
125,923,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0413:Csf3r
|
UTSW |
4 |
125,933,460 (GRCm39) |
splice site |
probably benign |
|
|
R0456:Csf3r
|
UTSW |
4 |
125,929,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0479:Csf3r
|
UTSW |
4 |
125,937,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1052:Csf3r
|
UTSW |
4 |
125,936,781 (GRCm39) |
splice site |
probably null |
|
|
R1466:Csf3r
|
UTSW |
4 |
125,925,725 (GRCm39) |
splice site |
probably benign |
|
|
R1512:Csf3r
|
UTSW |
4 |
125,923,777 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1902:Csf3r
|
UTSW |
4 |
125,936,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Csf3r
|
UTSW |
4 |
125,936,538 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2520:Csf3r
|
UTSW |
4 |
125,929,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3424:Csf3r
|
UTSW |
4 |
125,937,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Csf3r
|
UTSW |
4 |
125,928,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4514:Csf3r
|
UTSW |
4 |
125,933,653 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4817:Csf3r
|
UTSW |
4 |
125,931,449 (GRCm39) |
nonsense |
probably null |
|
|
R5111:Csf3r
|
UTSW |
4 |
125,923,861 (GRCm39) |
splice site |
probably null |
|
|
R5120:Csf3r
|
UTSW |
4 |
125,929,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5308:Csf3r
|
UTSW |
4 |
125,929,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5912:Csf3r
|
UTSW |
4 |
125,923,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Csf3r
|
UTSW |
4 |
125,937,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6024:Csf3r
|
UTSW |
4 |
125,931,310 (GRCm39) |
splice site |
probably null |
|
|
R7144:Csf3r
|
UTSW |
4 |
125,937,515 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7615:Csf3r
|
UTSW |
4 |
125,931,449 (GRCm39) |
nonsense |
probably null |
|
|
R7717:Csf3r
|
UTSW |
4 |
125,931,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Csf3r
|
UTSW |
4 |
125,923,712 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8935:Csf3r
|
UTSW |
4 |
125,937,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9131:Csf3r
|
UTSW |
4 |
125,923,813 (GRCm39) |
missense |
probably benign |
|
|
R9383:Csf3r
|
UTSW |
4 |
125,937,239 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGAAGATCCTTGCCTTCTTC -3'
(R):5'- ATGTCCATAGCCTCTGGTCC -3'
Sequencing Primer
(F):5'- TCTGCTTGGCACCAAAGC -3'
(R):5'- GTCCATAGCCTCTGGTCCTCATTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation