Incidental Mutation 'R3149:Csf2ra'
| ID |
264374 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R3149 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
61212395-61216867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61215758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 16
(A16S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076046]
|
| AlphaFold |
Q00941 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076046
AA Change: A16S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: A16S
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
G |
A |
17: 57,183,348 (GRCm39) |
A30T |
probably benign |
Het |
| Atox1 |
A |
G |
11: 55,341,379 (GRCm39) |
L52P |
possibly damaging |
Het |
| Cel |
T |
C |
2: 28,446,143 (GRCm39) |
D576G |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,683,930 (GRCm39) |
T173A |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,148,780 (GRCm39) |
T300A |
probably benign |
Het |
| Ggta1 |
A |
T |
2: 35,292,635 (GRCm39) |
I224N |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,060,479 (GRCm39) |
L3P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gm7137 |
T |
C |
10: 77,623,839 (GRCm39) |
|
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hoxa13 |
G |
T |
6: 52,237,284 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
A |
G |
9: 44,695,045 (GRCm39) |
D65G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
T |
C |
10: 105,662,214 (GRCm39) |
D252G |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,575,107 (GRCm39) |
V601A |
possibly damaging |
Het |
| Prkx |
A |
T |
X: 76,814,881 (GRCm39) |
F260I |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,380,687 (GRCm39) |
D21V |
possibly damaging |
Het |
| Rmnd5a |
T |
A |
6: 71,406,085 (GRCm39) |
I68L |
probably benign |
Het |
| Rock2 |
T |
C |
12: 17,015,092 (GRCm39) |
S762P |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,070 (GRCm39) |
V148A |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,624,359 (GRCm39) |
P1182S |
probably damaging |
Het |
| Vmn1r86 |
T |
A |
7: 12,836,358 (GRCm39) |
K123* |
probably null |
Het |
| Vmn2r68 |
A |
C |
7: 84,886,875 (GRCm39) |
V13G |
probably benign |
Het |
| Vps13d |
G |
C |
4: 144,853,147 (GRCm39) |
N2322K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACGACCGGAAGTGACATC -3'
(R):5'- GGGAATCAATAGGATAACGTCACC -3'
Sequencing Primer
(F):5'- CGACCGGAAGTGACATCATTGC -3'
(R):5'- GCATGGCTCAGATGGCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation