Incidental Mutation 'R0033:Csf3r'
ID |
15368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csf3r
|
Ensembl Gene |
ENSMUSG00000028859 |
Gene Name |
colony stimulating factor 3 receptor |
Synonyms |
Csfgr, G-CSFR, Cd114 |
MMRRC Submission |
038327-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.421)
|
Stock # |
R0033 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125925677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 151
(T151A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000106162]
|
AlphaFold |
P40223 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030673
AA Change: T151A
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030673 Gene: ENSMUSG00000028859 AA Change: T151A
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: ENSMUST00000106162
AA Change: T151A
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101768 Gene: ENSMUSG00000028859 AA Change: T151A
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 |
0.2036 |
Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
Validation Efficiency |
96% (74/77) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly 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 |
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 |
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 |
|
Posted On |
2012-12-17 |