Incidental Mutation 'IGL02365:Csf2rb2'
| ID |
290705 |
| 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 # |
IGL02365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78171260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 333
(M333K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
| AlphaFold |
P26954 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096356
AA Change: M442K
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: M442K
| 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: M333K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
A |
T |
11: 30,599,318 (GRCm39) |
V21E |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,428 (GRCm39) |
D331G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,270,108 (GRCm39) |
I347N |
probably benign |
Het |
| Bfsp1 |
T |
G |
2: 143,668,656 (GRCm39) |
E647A |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,754,146 (GRCm39) |
N354K |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,776,860 (GRCm39) |
T436S |
probably benign |
Het |
| Capza1b |
T |
C |
X: 168,559,526 (GRCm39) |
N272D |
probably benign |
Het |
| Cog7 |
C |
A |
7: 121,576,959 (GRCm39) |
M66I |
possibly damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,878 (GRCm39) |
V214A |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,547 (GRCm39) |
H177Q |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,404,395 (GRCm39) |
T2716A |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,241,873 (GRCm39) |
Q156R |
probably damaging |
Het |
| Dspp |
G |
T |
5: 104,323,927 (GRCm39) |
G357W |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fto |
T |
G |
8: 92,195,003 (GRCm39) |
S265R |
probably damaging |
Het |
| Gphb5 |
A |
G |
12: 75,462,591 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Klk13 |
A |
C |
7: 43,373,290 (GRCm39) |
K107T |
possibly damaging |
Het |
| Kpna7 |
T |
A |
5: 144,922,543 (GRCm39) |
D507V |
possibly damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,344 (GRCm39) |
E1158V |
probably damaging |
Het |
| Lonp2 |
A |
T |
8: 87,442,993 (GRCm39) |
D818V |
possibly damaging |
Het |
| Med15 |
A |
G |
16: 17,489,470 (GRCm39) |
|
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,119 (GRCm39) |
N274Y |
probably damaging |
Het |
| Or6c69b |
T |
C |
10: 129,627,404 (GRCm39) |
D18G |
possibly damaging |
Het |
| Or8g52 |
A |
T |
9: 39,630,970 (GRCm39) |
Y149F |
possibly damaging |
Het |
| Or8g52 |
G |
A |
9: 39,631,396 (GRCm39) |
S291N |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,952 (GRCm39) |
I82V |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,267 (GRCm39) |
I117V |
probably benign |
Het |
| Rhox12 |
T |
A |
X: 37,196,758 (GRCm39) |
D88V |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,402,048 (GRCm39) |
S500P |
probably damaging |
Het |
| Sdhd |
A |
T |
9: 50,510,125 (GRCm39) |
Y84N |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,498,788 (GRCm39) |
V233I |
probably benign |
Het |
| Vegfb |
A |
T |
19: 6,962,855 (GRCm39) |
I140N |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,223,025 (GRCm39) |
Y732C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,175 (GRCm39) |
F824L |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,250,885 (GRCm39) |
N22K |
probably benign |
Het |
| Zc3h11a |
A |
C |
1: 133,565,151 (GRCm39) |
N249K |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,068,206 (GRCm39) |
D203V |
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 |
|
IGL02330:Csf2rb2
|
APN |
15 |
78,169,328 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
Incidental Mutation