Incidental Mutation 'R8948:Csf2rb'
| ID |
681479 |
| 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 |
068786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78232520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 609
(D609V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096355]
[ENSMUST00000229678]
[ENSMUST00000230264]
|
| AlphaFold |
P26955 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096355
AA Change: D609V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: D609V
| 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 |
probably benign
Transcript: ENSMUST00000230264
AA Change: D609V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,418,805 (GRCm39) |
I102T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
C |
4: 126,244,115 (GRCm39) |
|
probably null |
Het |
| Akap1 |
G |
T |
11: 88,735,099 (GRCm39) |
A75E |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,041,012 (GRCm39) |
A227E |
possibly damaging |
Het |
| Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
| Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,181,358 (GRCm39) |
E601G |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,064 (GRCm39) |
R157H |
probably damaging |
Het |
| Cdkn3 |
C |
T |
14: 47,004,780 (GRCm39) |
P114L |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,446,527 (GRCm39) |
G352D |
probably damaging |
Het |
| Ctc1 |
T |
G |
11: 68,917,175 (GRCm39) |
Y110* |
probably null |
Het |
| D630023F18Rik |
T |
A |
1: 65,147,899 (GRCm39) |
N218I |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,728,768 (GRCm39) |
T408A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,134,920 (GRCm39) |
T518A |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,104,005 (GRCm39) |
M84K |
probably damaging |
Het |
| Ergic3 |
T |
C |
2: 155,853,160 (GRCm39) |
V201A |
probably benign |
Het |
| Espn |
C |
A |
4: 152,223,278 (GRCm39) |
W258L |
probably damaging |
Het |
| Gm45337 |
A |
G |
7: 141,697,817 (GRCm39) |
S156P |
unknown |
Het |
| Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 115,009,866 (GRCm39) |
G363D |
probably damaging |
Het |
| Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
| Khdc4 |
G |
T |
3: 88,617,219 (GRCm39) |
S506I |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,386,602 (GRCm39) |
D387E |
probably damaging |
Het |
| Lrrn2 |
A |
C |
1: 132,866,104 (GRCm39) |
I390L |
probably benign |
Het |
| Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,558,529 (GRCm39) |
R2588K |
unknown |
Het |
| Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,262 (GRCm39) |
I305T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,103,530 (GRCm39) |
I178T |
probably damaging |
Het |
| Pak2 |
A |
T |
16: 31,852,729 (GRCm39) |
|
probably benign |
Het |
| Perp |
A |
T |
10: 18,729,326 (GRCm39) |
I86F |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 112,993,511 (GRCm39) |
I149F |
probably damaging |
Het |
| Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,671 (GRCm39) |
S220P |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,286,032 (GRCm39) |
I73F |
possibly damaging |
Het |
| Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,868,830 (GRCm39) |
H623L |
possibly damaging |
Het |
| Sap30 |
C |
A |
8: 57,940,456 (GRCm39) |
A49S |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,361,882 (GRCm39) |
R83G |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,246,042 (GRCm39) |
I130N |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,743,767 (GRCm39) |
R466Q |
probably damaging |
Het |
| Smgc |
C |
T |
15: 91,722,565 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
T |
5: 37,612,341 (GRCm39) |
N348K |
possibly damaging |
Het |
| Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,332,085 (GRCm39) |
V161A |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,925,293 (GRCm39) |
R173H |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
| Vsig10l |
A |
T |
7: 43,117,623 (GRCm39) |
I739F |
possibly damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,594,802 (GRCm39) |
V730G |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
| Zmym4 |
C |
T |
4: 126,758,060 (GRCm39) |
R1498H |
probably damaging |
Het |
| Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
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 |
|
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 |
|
|
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'- ACGTGTCACCTCTCACTATAGAG -3'
(R):5'- TCCTTTGGCTCCACAGAAGG -3'
Sequencing Primer
(F):5'- ATATAATTCGAGTTCCACCATCCGGG -3'
(R):5'- TCCACAGAAGGGCTCCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation