Incidental Mutation 'R3424:Csf3r'
| ID |
267843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csf3r
|
| Ensembl Gene |
ENSMUSG00000028859 |
| Gene Name |
colony stimulating factor 3 receptor |
| Synonyms |
Csfgr, G-CSFR, Cd114 |
| MMRRC Submission |
040642-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R3424 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125937549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 811
(D811G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000030675]
[ENSMUST00000106162]
|
| AlphaFold |
P40223 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030673
AA Change: D811G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: D811G
| 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 |
probably benign
Transcript: ENSMUST00000030675
|
| SMART Domains |
Protein: ENSMUSP00000030675
Gene: ENSMUSG00000028861
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Ribosomal_S15
|
108 |
189 |
4.27e-16 |
SMART |
|
coiled coil region
|
211 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106162
AA Change: D811G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: D811G
| 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: ENSMUST00000124614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140426
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
G |
T |
12: 31,234,632 (GRCm39) |
|
noncoding transcript |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,846 (GRCm39) |
I191F |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,212,660 (GRCm39) |
I1584L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,823,381 (GRCm39) |
D1011N |
probably benign |
Het |
| Coro2b |
A |
T |
9: 62,336,590 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,237,586 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,158,058 (GRCm39) |
L227P |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,536,539 (GRCm39) |
V52A |
probably benign |
Het |
| Golga4 |
A |
C |
9: 118,363,715 (GRCm39) |
D229A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,075,833 (GRCm39) |
T1495I |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,657 (GRCm39) |
Y12C |
probably damaging |
Het |
| Hps1 |
A |
T |
19: 42,748,952 (GRCm39) |
M522K |
possibly damaging |
Het |
| Lrrc8e |
A |
T |
8: 4,284,611 (GRCm39) |
I279F |
probably damaging |
Het |
| Mettl24 |
C |
T |
10: 40,559,637 (GRCm39) |
Q96* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,279,595 (GRCm39) |
N193S |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,558 (GRCm39) |
L347P |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,911,830 (GRCm39) |
E231V |
probably damaging |
Het |
| Oxtr |
G |
T |
6: 112,454,191 (GRCm39) |
H24Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,980,671 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,432 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmeff2 |
A |
G |
1: 51,018,776 (GRCm39) |
|
probably benign |
Het |
| Tspan31 |
T |
A |
10: 126,904,371 (GRCm39) |
Q141L |
probably benign |
Het |
| Virma |
G |
T |
4: 11,513,177 (GRCm39) |
E344* |
probably null |
Het |
| Zbtb17 |
G |
T |
4: 141,192,299 (GRCm39) |
G415C |
probably damaging |
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 |
|
R3705:Csf3r
|
UTSW |
4 |
125,926,078 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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'- CCTCTATGGTCAGGTGCTTG -3'
(R):5'- ACCTCAGGGTATAGCCTGAG -3'
Sequencing Primer
(F):5'- TTGAGAGCCCCACCAGC -3'
(R):5'- AGAGACACACTGGGCCTTTCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation