Incidental Mutation 'R5202:Csf2rb'
| ID |
400935 |
| 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 |
042777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 78233257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 855
(S855A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096355]
[ENSMUST00000229678]
[ENSMUST00000230264]
|
| AlphaFold |
P26955 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096355
AA Change: S855A
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: S855A
| 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 |
noncoding transcript
Transcript: ENSMUST00000183523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229678
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230264
AA Change: S855A
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,562,308 (GRCm39) |
M312L |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,745,305 (GRCm39) |
D640Y |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,094,599 (GRCm39) |
Y384C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,737 (GRCm39) |
E289G |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,869 (GRCm39) |
R198S |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,819,042 (GRCm39) |
S109* |
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,668,891 (GRCm39) |
S569G |
probably benign |
Het |
| Chst9 |
A |
T |
18: 15,586,296 (GRCm39) |
I89N |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
| Csde1 |
T |
G |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,389,812 (GRCm39) |
D472E |
probably damaging |
Het |
| Cyp4f18 |
C |
A |
8: 72,762,940 (GRCm39) |
R49L |
probably benign |
Het |
| Daam1 |
G |
T |
12: 71,991,048 (GRCm39) |
V221L |
unknown |
Het |
| Dbr1 |
T |
G |
9: 99,465,944 (GRCm39) |
D507E |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,706,627 (GRCm39) |
M188V |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,660,990 (GRCm39) |
L1688* |
probably null |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| E2f3 |
G |
A |
13: 30,102,619 (GRCm39) |
T91I |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,853 (GRCm39) |
V157E |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,394,770 (GRCm39) |
T157S |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,458,767 (GRCm39) |
V2034A |
probably benign |
Het |
| Fzd10 |
T |
C |
5: 128,679,180 (GRCm39) |
V300A |
possibly damaging |
Het |
| Gbf1 |
A |
T |
19: 46,256,893 (GRCm39) |
M778L |
probably benign |
Het |
| Gm17472 |
T |
A |
6: 42,958,068 (GRCm39) |
N112K |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,424,330 (GRCm39) |
K845R |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,736,001 (GRCm39) |
S541T |
probably benign |
Het |
| Igkv4-68 |
G |
A |
6: 69,281,926 (GRCm39) |
R82C |
probably damaging |
Het |
| Itgb1 |
A |
T |
8: 129,446,491 (GRCm39) |
I383F |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,033 (GRCm39) |
K210* |
probably null |
Het |
| Limch1 |
C |
G |
5: 67,150,516 (GRCm39) |
D163E |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,826,363 (GRCm39) |
D188E |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,310 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
T |
C |
9: 110,473,734 (GRCm39) |
E28G |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,064,116 (GRCm39) |
E201G |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,323,583 (GRCm39) |
H1330Y |
probably damaging |
Het |
| Nudt14 |
A |
G |
12: 112,898,648 (GRCm39) |
S151P |
probably damaging |
Het |
| Or14c45 |
C |
A |
7: 86,176,324 (GRCm39) |
R120S |
probably damaging |
Het |
| Or2ag2 |
T |
A |
7: 106,485,803 (GRCm39) |
T74S |
possibly damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,514 (GRCm39) |
F28L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,163 (GRCm39) |
D51G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,414,583 (GRCm39) |
F80I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,617,565 (GRCm39) |
S1007R |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,485,121 (GRCm39) |
Y196H |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,380,298 (GRCm39) |
D1371V |
probably damaging |
Het |
| Slc48a1 |
A |
T |
15: 97,688,581 (GRCm39) |
I140F |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,944,879 (GRCm39) |
V882A |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,774,212 (GRCm39) |
G88W |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,189,455 (GRCm39) |
V427A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,463 (GRCm39) |
D69G |
probably benign |
Het |
| Tie1 |
C |
T |
4: 118,337,707 (GRCm39) |
V463I |
probably benign |
Het |
| Tmem150c |
G |
T |
5: 100,227,813 (GRCm39) |
H217N |
probably damaging |
Het |
| Tnks2 |
G |
A |
19: 36,866,252 (GRCm39) |
G1080R |
probably damaging |
Het |
| Ttll4 |
G |
A |
1: 74,727,011 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGACTATGTGGAGCTGC -3'
(R):5'- AACTCAGAGAGGCTTCTGTGG -3'
Sequencing Primer
(F):5'- AGCTGCCTCCAAGTGTGAG -3'
(R):5'- TCAGGCTGAGGACCACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation