Incidental Mutation 'R5398:Csf2rb'
| ID |
429816 |
| 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 |
042969-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78232820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 709
(D709G)
|
| 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: D709G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: D709G
| 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: D709G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
95% (59/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
| Adam34 |
A |
C |
8: 44,104,278 (GRCm39) |
C456G |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
| Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
| Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,613 (GRCm39) |
|
probably benign |
Het |
| Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
| Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
| Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
| Ociad1 |
T |
A |
5: 73,467,755 (GRCm39) |
V231E |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
| Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,761,638 (GRCm39) |
I289V |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,055,443 (GRCm39) |
T176A |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
| Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
| Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
| Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
| Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
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 |
|
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'- CCTTGGAGTACATGTGTCTGCC -3'
(R):5'- TAGTCCTCAAACCCTGGTGG -3'
Sequencing Primer
(F):5'- AAGCGCAACTGGTTCCATTG -3'
(R):5'- AAACCCTGGTGGCCCTAGAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation