Incidental Mutation 'IGL02479:Csf2rb'
| ID |
295108 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csf2rb
|
| Ensembl Gene |
ENSMUSG00000071713 |
| Gene Name |
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |
| Synonyms |
Il5rb, Il3r, common beta chain, Il3rb1, CDw131, beta c, AIC2B, Bc, Csf2rb1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 78225924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 332
(Q332*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096355]
[ENSMUST00000229678]
[ENSMUST00000230264]
[ENSMUST00000231888]
|
| AlphaFold |
P26955 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096355
AA Change: Q332*
|
| SMART Domains |
Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: Q332*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SCOP:d1gh7a1
|
29 |
130 |
6e-58 |
SMART |
|
FN3
|
136 |
224 |
4.44e0 |
SMART |
|
Blast:FN3
|
245 |
338 |
3e-24 |
BLAST |
|
SCOP:d1gh7a3
|
245 |
338 |
2e-45 |
SMART |
|
FN3
|
343 |
426 |
2.41e0 |
SMART |
|
transmembrane domain
|
446 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
845 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229678
AA Change: Q332*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229920
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230264
AA Change: Q332*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231888
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(4) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,461 (GRCm39) |
Y528C |
probably damaging |
Het |
| Adam24 |
T |
A |
8: 41,132,571 (GRCm39) |
I13N |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,232,588 (GRCm39) |
S445P |
possibly damaging |
Het |
| Btf3l4 |
G |
A |
4: 108,683,373 (GRCm39) |
T31I |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,423,297 (GRCm39) |
D502E |
probably damaging |
Het |
| Cenpl |
T |
A |
1: 160,910,637 (GRCm39) |
S195T |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,528,107 (GRCm39) |
I545N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,477 (GRCm39) |
D284G |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,566,115 (GRCm39) |
E345G |
probably benign |
Het |
| Dync1i2 |
G |
A |
2: 71,066,323 (GRCm39) |
V128I |
probably damaging |
Het |
| Eno3 |
T |
A |
11: 70,551,714 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,422,147 (GRCm39) |
I347K |
probably benign |
Het |
| F8 |
A |
T |
X: 74,331,846 (GRCm39) |
N681K |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,153,259 (GRCm39) |
D1238E |
probably damaging |
Het |
| Fcna |
T |
A |
2: 25,515,272 (GRCm39) |
Q237L |
probably benign |
Het |
| Fpr2 |
A |
T |
17: 18,113,074 (GRCm39) |
R23S |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,105,752 (GRCm39) |
D466G |
probably benign |
Het |
| Gen1 |
C |
A |
12: 11,291,936 (GRCm39) |
V618L |
probably benign |
Het |
| Gja4 |
T |
C |
4: 127,206,217 (GRCm39) |
E182G |
probably benign |
Het |
| Gsdmc |
T |
A |
15: 63,649,824 (GRCm39) |
I356F |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,111,400 (GRCm39) |
D102G |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,794,235 (GRCm39) |
L433P |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,295,145 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
G |
A |
11: 94,187,735 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
T |
A |
10: 19,932,230 (GRCm39) |
L458Q |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,878,545 (GRCm39) |
S1038P |
probably damaging |
Het |
| Med12 |
A |
T |
X: 100,340,598 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
A |
4: 148,555,041 (GRCm39) |
L888M |
probably damaging |
Het |
| Nova1 |
A |
T |
12: 46,863,701 (GRCm39) |
I83N |
unknown |
Het |
| Obscn |
A |
G |
11: 58,947,053 (GRCm39) |
|
probably benign |
Het |
| Or11q2 |
T |
C |
X: 48,772,742 (GRCm39) |
V121A |
probably benign |
Het |
| Or4d10c |
T |
A |
19: 12,065,269 (GRCm39) |
M296L |
probably benign |
Het |
| Or4f15 |
A |
C |
2: 111,813,730 (GRCm39) |
S230A |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,520 (GRCm39) |
Y60* |
probably null |
Het |
| Pde2a |
A |
G |
7: 101,150,290 (GRCm39) |
Y243C |
probably damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,288,215 (GRCm39) |
K1062* |
probably null |
Het |
| Phc1 |
A |
T |
6: 122,300,676 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,863,730 (GRCm39) |
S764T |
probably benign |
Het |
| Pmp2 |
T |
G |
3: 10,247,262 (GRCm39) |
R89S |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,861,499 (GRCm39) |
L597P |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,554,424 (GRCm39) |
D88E |
probably benign |
Het |
| Rgs9 |
T |
C |
11: 109,116,478 (GRCm39) |
S442G |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,285,968 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Sez6 |
C |
A |
11: 77,868,852 (GRCm39) |
A986E |
possibly damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,341,555 (GRCm39) |
M325L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,161 (GRCm39) |
S76G |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,763 (GRCm39) |
V188I |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,103 (GRCm39) |
C67F |
probably damaging |
Het |
| Stk31 |
A |
G |
6: 49,398,622 (GRCm39) |
E341G |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,099,476 (GRCm39) |
M1267L |
probably damaging |
Het |
| Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
| Trav8d-1 |
T |
C |
14: 53,016,257 (GRCm39) |
S48P |
probably benign |
Het |
| Vrk1 |
A |
T |
12: 106,017,261 (GRCm39) |
Q95L |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,527 (GRCm39) |
T224K |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,892,820 (GRCm39) |
H224Q |
probably damaging |
Het |
| Zhx1 |
C |
T |
15: 57,917,767 (GRCm39) |
E160K |
probably damaging |
Het |
|
| Other mutations in Csf2rb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Csf2rb
|
APN |
15 |
78,232,714 (GRCm39) |
nonsense |
probably null |
|
|
IGL00979:Csf2rb
|
APN |
15 |
78,232,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01613:Csf2rb
|
APN |
15 |
78,219,502 (GRCm39) |
intron |
probably benign |
|
|
IGL01724:Csf2rb
|
APN |
15 |
78,220,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Csf2rb
|
APN |
15 |
78,224,692 (GRCm39) |
missense |
probably benign |
|
|
3-1:Csf2rb
|
UTSW |
15 |
78,228,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Csf2rb
|
UTSW |
15 |
78,223,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0133:Csf2rb
|
UTSW |
15 |
78,223,204 (GRCm39) |
unclassified |
probably benign |
|
|
R0179:Csf2rb
|
UTSW |
15 |
78,220,572 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0487:Csf2rb
|
UTSW |
15 |
78,232,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Csf2rb
|
UTSW |
15 |
78,224,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1619:Csf2rb
|
UTSW |
15 |
78,219,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1690:Csf2rb
|
UTSW |
15 |
78,232,844 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1831:Csf2rb
|
UTSW |
15 |
78,232,453 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3970:Csf2rb
|
UTSW |
15 |
78,225,667 (GRCm39) |
missense |
probably benign |
|
|
R4922:Csf2rb
|
UTSW |
15 |
78,230,667 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5151:Csf2rb
|
UTSW |
15 |
78,224,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:Csf2rb
|
UTSW |
15 |
78,233,257 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5398:Csf2rb
|
UTSW |
15 |
78,232,820 (GRCm39) |
missense |
probably benign |
|
|
R5496:Csf2rb
|
UTSW |
15 |
78,224,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Csf2rb
|
UTSW |
15 |
78,233,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Csf2rb
|
UTSW |
15 |
78,228,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Csf2rb
|
UTSW |
15 |
78,229,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6350:Csf2rb
|
UTSW |
15 |
78,229,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6899:Csf2rb
|
UTSW |
15 |
78,224,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6984:Csf2rb
|
UTSW |
15 |
78,229,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Csf2rb
|
UTSW |
15 |
78,223,099 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7671:Csf2rb
|
UTSW |
15 |
78,223,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Csf2rb
|
UTSW |
15 |
78,225,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Csf2rb
|
UTSW |
15 |
78,228,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7861:Csf2rb
|
UTSW |
15 |
78,233,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Csf2rb
|
UTSW |
15 |
78,232,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8154:Csf2rb
|
UTSW |
15 |
78,224,642 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8299:Csf2rb
|
UTSW |
15 |
78,230,669 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8315:Csf2rb
|
UTSW |
15 |
78,231,581 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8926:Csf2rb
|
UTSW |
15 |
78,224,749 (GRCm39) |
missense |
probably benign |
|
|
R8948:Csf2rb
|
UTSW |
15 |
78,232,520 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8950:Csf2rb
|
UTSW |
15 |
78,232,520 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9265:Csf2rb
|
UTSW |
15 |
78,232,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9510:Csf2rb
|
UTSW |
15 |
78,229,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9755:Csf2rb
|
UTSW |
15 |
78,232,824 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Csf2rb
|
UTSW |
15 |
78,220,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Csf2rb
|
UTSW |
15 |
78,233,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation