Incidental Mutation 'R1690:Csf2rb'
| ID |
191736 |
| 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 |
039723-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1690 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78232844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 717
(V717A)
|
| 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: V717A
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: V717A
| 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 |
probably benign
Transcript: ENSMUST00000230264
AA Change: V717A
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
| D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
| Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
| Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
| Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
| Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
| Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
| Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
| Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
| Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
| Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
| Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
| Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
| Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
| Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
| Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACATTTGGAAGACAACAACGTG -3'
(R):5'- ACATAGTCCTCAAACCCTGGTGGC -3'
Sequencing Primer
(F):5'- GGAAGCAATTACCCAGCTTTG -3'
(R):5'- AACCCTGGTGGCCCTAGAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation