Incidental Mutation 'IGL01693:Csf2ra'
| ID |
104186 |
| 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 # |
IGL01693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
61212395-61216867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61214434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 244
(S244P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076046]
|
| AlphaFold |
Q00941 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076046
AA Change: S244P
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: S244P
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b8 |
T |
A |
6: 34,340,271 (GRCm39) |
M145K |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,610,167 (GRCm39) |
D943G |
probably null |
Het |
| Arhgap42 |
A |
T |
9: 9,006,507 (GRCm39) |
W630R |
probably damaging |
Het |
| Bbs5 |
T |
A |
2: 69,493,424 (GRCm39) |
S225T |
probably benign |
Het |
| Cacna1f |
A |
T |
X: 7,491,606 (GRCm39) |
N1159Y |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,884,523 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
A |
C |
19: 21,779,251 (GRCm39) |
I354L |
probably benign |
Het |
| Cep15 |
T |
C |
14: 12,287,380 (GRCm38) |
L55P |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,750,957 (GRCm39) |
W20R |
probably damaging |
Het |
| Cmtm8 |
G |
A |
9: 114,618,773 (GRCm39) |
T160M |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,397,307 (GRCm39) |
P3913S |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,944,527 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
C |
T |
11: 101,106,084 (GRCm39) |
M100I |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,778,653 (GRCm39) |
P189Q |
probably damaging |
Het |
| Gcnt2 |
G |
A |
13: 41,041,549 (GRCm39) |
S236N |
probably benign |
Het |
| H1f7 |
A |
C |
15: 98,154,262 (GRCm39) |
Y296D |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,459,031 (GRCm39) |
D5191V |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,365,415 (GRCm39) |
D4194E |
probably damaging |
Het |
| Ncf2 |
C |
A |
1: 152,700,074 (GRCm39) |
T203K |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,921 (GRCm39) |
V40L |
probably benign |
Het |
| Pate8 |
G |
A |
9: 36,492,662 (GRCm39) |
T81I |
probably benign |
Het |
| Phf8 |
T |
A |
X: 150,333,871 (GRCm39) |
V113E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,577,805 (GRCm39) |
K207N |
probably damaging |
Het |
| Slco1a6 |
G |
T |
6: 142,078,935 (GRCm39) |
S120* |
probably null |
Het |
| Sox10 |
C |
T |
15: 79,040,473 (GRCm39) |
V195M |
possibly damaging |
Het |
| Swt1 |
A |
G |
1: 151,297,855 (GRCm39) |
I24T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,754,072 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,384 (GRCm39) |
Y561H |
probably damaging |
Het |
|
| Other mutations in Csf2ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Csf2ra
|
APN |
19 |
61,215,271 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01465:Csf2ra
|
APN |
19 |
61,214,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2014-01-21 |
Incidental Mutation