Incidental Mutation 'IGL02330:Csf2rb2'
ID |
288640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csf2rb2
|
Ensembl Gene |
ENSMUSG00000071714 |
Gene Name |
colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) |
Synonyms |
Bil3, BetaIl3, Il3rb2, AIC2A, Il3r |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02330
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 78169328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 500
(G500D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
AlphaFold |
P26954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096356
AA Change: G609D
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000094083 Gene: ENSMUSG00000071714 AA Change: G609D
Domain | Start | End | E-Value | Type |
SCOP:d1gh7a1
|
29 |
131 |
1e-57 |
SMART |
FN3
|
137 |
225 |
3.73e-1 |
SMART |
Pfam:IL6Ra-bind
|
248 |
342 |
6.3e-11 |
PFAM |
FN3
|
343 |
425 |
2.83e0 |
SMART |
transmembrane domain
|
445 |
467 |
N/A |
INTRINSIC |
low complexity region
|
716 |
743 |
N/A |
INTRINSIC |
low complexity region
|
824 |
845 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183491
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230115
AA Change: G500D
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
|
Other mutations in Csf2rb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Csf2rb2
|
APN |
15 |
78,169,047 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL00765:Csf2rb2
|
APN |
15 |
78,176,916 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01383:Csf2rb2
|
APN |
15 |
78,181,243 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01975:Csf2rb2
|
APN |
15 |
78,173,086 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02365:Csf2rb2
|
APN |
15 |
78,171,260 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02756:Csf2rb2
|
APN |
15 |
78,169,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0269:Csf2rb2
|
UTSW |
15 |
78,173,065 (GRCm39) |
missense |
probably benign |
0.09 |
R0462:Csf2rb2
|
UTSW |
15 |
78,169,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Csf2rb2
|
UTSW |
15 |
78,172,108 (GRCm39) |
missense |
probably benign |
0.00 |
R0607:Csf2rb2
|
UTSW |
15 |
78,172,108 (GRCm39) |
missense |
probably benign |
0.00 |
R0636:Csf2rb2
|
UTSW |
15 |
78,176,160 (GRCm39) |
nonsense |
probably null |
|
R0782:Csf2rb2
|
UTSW |
15 |
78,170,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R1387:Csf2rb2
|
UTSW |
15 |
78,182,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R1799:Csf2rb2
|
UTSW |
15 |
78,181,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Csf2rb2
|
UTSW |
15 |
78,176,735 (GRCm39) |
splice site |
probably null |
|
R2079:Csf2rb2
|
UTSW |
15 |
78,172,207 (GRCm39) |
missense |
probably benign |
0.13 |
R2108:Csf2rb2
|
UTSW |
15 |
78,176,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R2359:Csf2rb2
|
UTSW |
15 |
78,176,976 (GRCm39) |
missense |
probably benign |
0.39 |
R4614:Csf2rb2
|
UTSW |
15 |
78,175,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:Csf2rb2
|
UTSW |
15 |
78,169,490 (GRCm39) |
missense |
probably benign |
0.11 |
R4900:Csf2rb2
|
UTSW |
15 |
78,170,174 (GRCm39) |
splice site |
probably null |
|
R5206:Csf2rb2
|
UTSW |
15 |
78,176,952 (GRCm39) |
missense |
probably benign |
|
R5270:Csf2rb2
|
UTSW |
15 |
78,176,182 (GRCm39) |
splice site |
probably null |
|
R5427:Csf2rb2
|
UTSW |
15 |
78,173,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R6633:Csf2rb2
|
UTSW |
15 |
78,173,152 (GRCm39) |
missense |
probably benign |
0.00 |
R7067:Csf2rb2
|
UTSW |
15 |
78,176,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Csf2rb2
|
UTSW |
15 |
78,181,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Csf2rb2
|
UTSW |
15 |
78,169,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R7423:Csf2rb2
|
UTSW |
15 |
78,176,760 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7453:Csf2rb2
|
UTSW |
15 |
78,169,491 (GRCm39) |
missense |
probably benign |
0.14 |
R7705:Csf2rb2
|
UTSW |
15 |
78,168,774 (GRCm39) |
missense |
probably benign |
0.02 |
R7788:Csf2rb2
|
UTSW |
15 |
78,177,041 (GRCm39) |
missense |
probably benign |
0.12 |
R7849:Csf2rb2
|
UTSW |
15 |
78,168,621 (GRCm39) |
missense |
probably benign |
0.09 |
R7851:Csf2rb2
|
UTSW |
15 |
78,173,137 (GRCm39) |
missense |
probably benign |
0.10 |
R8057:Csf2rb2
|
UTSW |
15 |
78,169,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R8405:Csf2rb2
|
UTSW |
15 |
78,172,093 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8406:Csf2rb2
|
UTSW |
15 |
78,171,216 (GRCm39) |
missense |
probably benign |
0.00 |
R8857:Csf2rb2
|
UTSW |
15 |
78,178,613 (GRCm39) |
missense |
probably null |
0.00 |
R8972:Csf2rb2
|
UTSW |
15 |
78,172,115 (GRCm39) |
missense |
probably benign |
|
R9262:Csf2rb2
|
UTSW |
15 |
78,168,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R9311:Csf2rb2
|
UTSW |
15 |
78,176,735 (GRCm39) |
splice site |
probably null |
|
R9343:Csf2rb2
|
UTSW |
15 |
78,171,287 (GRCm39) |
intron |
probably benign |
|
R9478:Csf2rb2
|
UTSW |
15 |
78,168,965 (GRCm39) |
missense |
probably benign |
0.00 |
R9713:Csf2rb2
|
UTSW |
15 |
78,176,730 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9789:Csf2rb2
|
UTSW |
15 |
78,169,196 (GRCm39) |
missense |
probably benign |
0.06 |
RF007:Csf2rb2
|
UTSW |
15 |
78,176,126 (GRCm39) |
missense |
probably benign |
0.21 |
RF009:Csf2rb2
|
UTSW |
15 |
78,176,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2015-04-16 |