Incidental Mutation 'R8135:Csf2rb'
| ID |
632231 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
067563-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78232319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 542
(I542K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096355]
[ENSMUST00000229678]
[ENSMUST00000230264]
|
| AlphaFold |
P26955 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096355
AA Change: I542K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: I542K
| 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 benign
Transcript: ENSMUST00000229678
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230264
AA Change: I542K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,674,712 (GRCm39) |
I420V |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,754,022 (GRCm39) |
M359K |
probably damaging |
Het |
| Adra1d |
C |
T |
2: 131,403,692 (GRCm39) |
A133T |
probably damaging |
Het |
| B3galnt2 |
T |
A |
13: 14,145,454 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
G |
1: 193,036,335 (GRCm39) |
V175A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,649 (GRCm39) |
N178D |
probably benign |
Het |
| Ctsz |
T |
C |
2: 174,270,946 (GRCm39) |
T183A |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,629,090 (GRCm39) |
D213G |
unknown |
Het |
| Dph7 |
T |
C |
2: 24,859,556 (GRCm39) |
I271T |
probably benign |
Het |
| Edem1 |
G |
T |
6: 108,806,022 (GRCm39) |
E108* |
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,412,226 (GRCm39) |
T328A |
probably benign |
Het |
| Fasl |
A |
G |
1: 161,614,697 (GRCm39) |
V122A |
probably benign |
Het |
| Fut2 |
T |
C |
7: 45,300,566 (GRCm39) |
T69A |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,210 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,904,880 (GRCm39) |
V481D |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,542,872 (GRCm39) |
I211V |
probably benign |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,662 (GRCm39) |
T107A |
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,849,394 (GRCm39) |
K297N |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,828 (GRCm39) |
T573A |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,180 (GRCm39) |
D1438G |
probably damaging |
Het |
| Nipal2 |
A |
T |
15: 34,678,719 (GRCm39) |
Y41N |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,922,703 (GRCm39) |
S5878T |
possibly damaging |
Het |
| Pde6a |
T |
C |
18: 61,418,996 (GRCm39) |
F791L |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,812,427 (GRCm39) |
N308K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Robo2 |
T |
G |
16: 73,730,048 (GRCm39) |
I1050L |
probably benign |
Het |
| Rps2 |
A |
G |
17: 24,939,409 (GRCm39) |
K54E |
probably benign |
Het |
| Set |
T |
A |
2: 29,959,439 (GRCm39) |
D137E |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,075 (GRCm39) |
I100M |
probably benign |
Het |
| Spdye4b |
T |
C |
5: 143,180,777 (GRCm39) |
V81A |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,609,071 (GRCm39) |
D722G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,135,420 (GRCm39) |
D1011V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,548,446 (GRCm39) |
I573F |
possibly damaging |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,530 (GRCm39) |
C277S |
probably benign |
Het |
| Vwa1 |
T |
A |
4: 155,857,351 (GRCm39) |
D149V |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,089,564 (GRCm39) |
V23E |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
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 |
|
|
IGL02479:Csf2rb
|
APN |
15 |
78,225,924 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACAGGACCTCATGCCTC -3'
(R):5'- CATGTACTCCAAGGAGCCTG -3'
Sequencing Primer
(F):5'- ATGCCTCGGTGCTTACTG -3'
(R):5'- AGTGCTGGCTTCAGGCTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation