Incidental Mutation 'IGL01304:Csf2ra'
ID |
73374 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csf2ra
|
Ensembl Gene |
ENSMUSG00000059326 |
Gene Name |
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) |
Synonyms |
GM-CSF-Ra, GM-CSFRalpha, Csfgmra, CD116 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL01304
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
61212395-61216867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61215271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 115
(H115Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076046]
|
AlphaFold |
Q00941 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076046
AA Change: H115Y
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000075423 Gene: ENSMUSG00000059326 AA Change: H115Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:IL6Ra-bind
|
129 |
223 |
5.2e-23 |
PFAM |
FN3
|
226 |
311 |
9.19e-1 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Ksr1 |
T |
C |
11: 78,918,468 (GRCm39) |
Q562R |
probably damaging |
Het |
Lrif1 |
C |
T |
3: 106,639,049 (GRCm39) |
P20S |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
Ppp6r3 |
A |
T |
19: 3,517,261 (GRCm39) |
M662K |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
Rad52 |
A |
G |
6: 119,895,594 (GRCm39) |
E198G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,500,685 (GRCm39) |
D358G |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly damaging |
Het |
|
Other mutations in Csf2ra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01465:Csf2ra
|
APN |
19 |
61,214,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01693:Csf2ra
|
APN |
19 |
61,214,434 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02474:Csf2ra
|
APN |
19 |
61,214,975 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02950:Csf2ra
|
APN |
19 |
61,215,607 (GRCm39) |
missense |
probably benign |
0.01 |
R0054:Csf2ra
|
UTSW |
19 |
61,215,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R0201:Csf2ra
|
UTSW |
19 |
61,214,006 (GRCm39) |
missense |
probably benign |
0.14 |
R0452:Csf2ra
|
UTSW |
19 |
61,215,333 (GRCm39) |
missense |
probably benign |
0.02 |
R1735:Csf2ra
|
UTSW |
19 |
61,214,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Csf2ra
|
UTSW |
19 |
61,215,331 (GRCm39) |
missense |
probably benign |
0.01 |
R2157:Csf2ra
|
UTSW |
19 |
61,215,509 (GRCm39) |
missense |
probably benign |
0.05 |
R3149:Csf2ra
|
UTSW |
19 |
61,215,758 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3150:Csf2ra
|
UTSW |
19 |
61,215,758 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4747:Csf2ra
|
UTSW |
19 |
61,214,491 (GRCm39) |
nonsense |
probably null |
|
R4825:Csf2ra
|
UTSW |
19 |
61,214,990 (GRCm39) |
missense |
probably benign |
0.10 |
R5580:Csf2ra
|
UTSW |
19 |
61,214,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R5831:Csf2ra
|
UTSW |
19 |
61,213,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R5887:Csf2ra
|
UTSW |
19 |
61,215,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7105:Csf2ra
|
UTSW |
19 |
61,213,458 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7123:Csf2ra
|
UTSW |
19 |
61,215,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Csf2ra
|
UTSW |
19 |
61,215,491 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7721:Csf2ra
|
UTSW |
19 |
61,215,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R8918:Csf2ra
|
UTSW |
19 |
61,214,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R8972:Csf2ra
|
UTSW |
19 |
61,213,597 (GRCm39) |
missense |
probably null |
0.09 |
R9320:Csf2ra
|
UTSW |
19 |
61,215,280 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9686:Csf2ra
|
UTSW |
19 |
61,213,629 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Csf2ra
|
UTSW |
19 |
61,213,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2013-10-07 |