Incidental Mutation 'R3150:Csf2ra'
| ID |
271656 |
| 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 |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R3150 (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: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
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 |
|
R3149: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'- GTGACATCATTGCGGGACAAG -3'
(R):5'- AAAGCGGGTCCACATATAAGC -3'
Sequencing Primer
(F):5'- TCACGGTGCATGACGTCAC -3'
(R):5'- GCGGGTCCACATATAAGCAAAGATTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation