Incidental Mutation 'IGL00765:Csf2rb2'
ID |
9908 |
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 # |
IGL00765
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78176916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 185
(S185P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
AlphaFold |
P26954 |
PDB Structure |
Extracellular domains of mouse IL-3 beta receptor [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096356
AA Change: S185P
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000094083 Gene: ENSMUSG00000071714 AA Change: S185P
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 |
probably benign
Transcript: ENSMUST00000230115
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230932
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
C |
T |
16: 14,229,372 (GRCm39) |
T368I |
probably damaging |
Het |
Bub1 |
T |
A |
2: 127,671,392 (GRCm39) |
N64I |
probably damaging |
Het |
Ccdc97 |
A |
G |
7: 25,414,277 (GRCm39) |
L159P |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,123,431 (GRCm39) |
V214A |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,322,706 (GRCm39) |
|
probably benign |
Het |
Eif3e |
A |
T |
15: 43,141,745 (GRCm39) |
M55K |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 63,996,586 (GRCm39) |
V365A |
possibly damaging |
Het |
Fndc1 |
A |
G |
17: 7,991,525 (GRCm39) |
S724P |
unknown |
Het |
Htt |
T |
C |
5: 35,034,769 (GRCm39) |
|
probably benign |
Het |
Ints4 |
C |
T |
7: 97,184,412 (GRCm39) |
T839I |
probably damaging |
Het |
Lrp6 |
T |
G |
6: 134,518,817 (GRCm39) |
T83P |
probably benign |
Het |
Lrrc8d |
C |
T |
5: 105,959,818 (GRCm39) |
T76I |
possibly damaging |
Het |
Nae1 |
T |
C |
8: 105,244,582 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
C |
7: 106,789,346 (GRCm39) |
V45A |
possibly damaging |
Het |
Nrp2 |
C |
A |
1: 62,743,410 (GRCm39) |
S16* |
probably null |
Het |
Nup155 |
T |
C |
15: 8,182,712 (GRCm39) |
I1225T |
probably benign |
Het |
Pnpla7 |
G |
T |
2: 24,870,236 (GRCm39) |
A43S |
probably damaging |
Het |
Prcp |
T |
C |
7: 92,582,307 (GRCm39) |
S431P |
probably benign |
Het |
Rbck1 |
A |
G |
2: 152,172,874 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,968,867 (GRCm39) |
E963G |
probably damaging |
Het |
Tanc1 |
A |
C |
2: 59,636,645 (GRCm39) |
M836L |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 98,986,612 (GRCm39) |
|
probably benign |
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 |
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 |
IGL02330:Csf2rb2
|
APN |
15 |
78,169,328 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2012-12-06 |