Incidental Mutation 'R7067:Csf2rb2'
| ID |
548652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csf2rb2
|
| Ensembl Gene |
ENSMUSG00000071714 |
| Gene Name |
colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) |
| Synonyms |
Bil3, BetaIl3, Il3rb2, AIC2A, Il3r |
| MMRRC Submission |
045163-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78176694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 233
(W233R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
| AlphaFold |
P26954 |
| PDB Structure |
Extracellular domains of mouse IL-3 beta receptor [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096356
AA Change: W233R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: W233R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gh7a1
|
29 |
131 |
1e-57 |
SMART |
|
FN3
|
137 |
225 |
3.73e-1 |
SMART |
|
Pfam:IL6Ra-bind
|
248 |
342 |
6.3e-11 |
PFAM |
|
FN3
|
343 |
425 |
2.83e0 |
SMART |
|
transmembrane domain
|
445 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
845 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230115
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,921 (GRCm39) |
S72C |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,845 (GRCm39) |
D1236G |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,668,114 (GRCm39) |
N165D |
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,816,431 (GRCm39) |
|
probably null |
Het |
| Afg2a |
C |
T |
3: 37,485,847 (GRCm39) |
Q190* |
probably null |
Het |
| Anapc4 |
A |
G |
5: 53,019,577 (GRCm39) |
T580A |
probably benign |
Het |
| Apob |
T |
C |
12: 8,059,423 (GRCm39) |
I2602T |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,387 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,673 (GRCm39) |
|
probably null |
Het |
| Bend4 |
A |
G |
5: 67,557,611 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,873 (GRCm39) |
Y261C |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,167,489 (GRCm39) |
N271S |
probably benign |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,202 (GRCm39) |
L460F |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 162,148,540 (GRCm39) |
L277P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,817,926 (GRCm39) |
N135I |
probably damaging |
Het |
| Elapor2 |
G |
T |
5: 9,316,295 (GRCm39) |
A9S |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,078 (GRCm39) |
S2466T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,802,447 (GRCm39) |
A276V |
possibly damaging |
Het |
| Gm47985 |
A |
T |
1: 151,059,241 (GRCm39) |
D294V |
unknown |
Het |
| Golga1 |
A |
T |
2: 38,937,731 (GRCm39) |
D104E |
probably benign |
Het |
| Hnrnpr |
C |
T |
4: 136,054,704 (GRCm39) |
A219V |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,399,888 (GRCm39) |
|
probably null |
Het |
| Hspa8 |
T |
C |
9: 40,715,921 (GRCm39) |
I562T |
probably damaging |
Het |
| Htra4 |
C |
T |
8: 25,523,717 (GRCm39) |
V283M |
probably damaging |
Het |
| Il36rn |
C |
T |
2: 24,167,541 (GRCm39) |
R11* |
probably null |
Het |
| Iqcd |
A |
G |
5: 120,743,212 (GRCm39) |
T325A |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,832,271 (GRCm39) |
M624K |
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,209 (GRCm39) |
Q340K |
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,518,413 (GRCm39) |
N275Y |
probably damaging |
Het |
| Lpin2 |
A |
C |
17: 71,551,853 (GRCm39) |
K789T |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,929,986 (GRCm39) |
I24T |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,569,547 (GRCm39) |
I991F |
unknown |
Het |
| Ntf5 |
T |
A |
7: 45,065,048 (GRCm39) |
L60Q |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,276,158 (GRCm39) |
S22P |
possibly damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,979 (GRCm39) |
T22A |
possibly damaging |
Het |
| Or8k21 |
T |
A |
2: 86,144,911 (GRCm39) |
T240S |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,967,074 (GRCm39) |
V405A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,640,934 (GRCm39) |
S147P |
probably benign |
Het |
| Pole |
G |
T |
5: 110,482,084 (GRCm39) |
G142V |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,488 (GRCm39) |
Q508* |
probably null |
Het |
| Repin1 |
T |
A |
6: 48,574,850 (GRCm39) |
L537* |
probably null |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,529 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,399,057 (GRCm39) |
S141G |
probably benign |
Het |
| Spon2 |
A |
G |
5: 33,371,958 (GRCm39) |
S283P |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,266 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,694,019 (GRCm39) |
D89G |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,184,586 (GRCm39) |
I4099T |
probably damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,075 (GRCm39) |
D105G |
probably benign |
Het |
| Tlx3 |
C |
T |
11: 33,153,204 (GRCm39) |
G86S |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,775 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,201,246 (GRCm39) |
V392I |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,685,731 (GRCm39) |
T2285K |
possibly damaging |
Het |
| Vars1 |
G |
A |
17: 35,230,455 (GRCm39) |
V513I |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,849 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,302 (GRCm39) |
I714V |
probably benign |
Het |
| Xbp1 |
T |
A |
11: 5,474,275 (GRCm39) |
S159T |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,851,565 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zc3h4 |
A |
T |
7: 16,162,976 (GRCm39) |
K459* |
probably null |
Het |
| Zdhhc6 |
G |
A |
19: 55,292,871 (GRCm39) |
R292* |
probably null |
Het |
| Zfp383 |
T |
A |
7: 29,608,071 (GRCm39) |
M1K |
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
|
| Other mutations in Csf2rb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Csf2rb2
|
APN |
15 |
78,169,047 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00765:Csf2rb2
|
APN |
15 |
78,176,916 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01383:Csf2rb2
|
APN |
15 |
78,181,243 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01975:Csf2rb2
|
APN |
15 |
78,173,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02330:Csf2rb2
|
APN |
15 |
78,169,328 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02365:Csf2rb2
|
APN |
15 |
78,171,260 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02756:Csf2rb2
|
APN |
15 |
78,169,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0269:Csf2rb2
|
UTSW |
15 |
78,173,065 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0462:Csf2rb2
|
UTSW |
15 |
78,169,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Csf2rb2
|
UTSW |
15 |
78,172,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0607:Csf2rb2
|
UTSW |
15 |
78,172,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0636:Csf2rb2
|
UTSW |
15 |
78,176,160 (GRCm39) |
nonsense |
probably null |
|
|
R0782:Csf2rb2
|
UTSW |
15 |
78,170,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1387:Csf2rb2
|
UTSW |
15 |
78,182,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1799:Csf2rb2
|
UTSW |
15 |
78,181,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Csf2rb2
|
UTSW |
15 |
78,176,735 (GRCm39) |
splice site |
probably null |
|
|
R2079:Csf2rb2
|
UTSW |
15 |
78,172,207 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2108:Csf2rb2
|
UTSW |
15 |
78,176,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2359:Csf2rb2
|
UTSW |
15 |
78,176,976 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4614:Csf2rb2
|
UTSW |
15 |
78,175,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Csf2rb2
|
UTSW |
15 |
78,169,490 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4900:Csf2rb2
|
UTSW |
15 |
78,170,174 (GRCm39) |
splice site |
probably null |
|
|
R5206:Csf2rb2
|
UTSW |
15 |
78,176,952 (GRCm39) |
missense |
probably benign |
|
|
R5270:Csf2rb2
|
UTSW |
15 |
78,176,182 (GRCm39) |
splice site |
probably null |
|
|
R5427:Csf2rb2
|
UTSW |
15 |
78,173,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6633:Csf2rb2
|
UTSW |
15 |
78,173,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7102:Csf2rb2
|
UTSW |
15 |
78,181,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Csf2rb2
|
UTSW |
15 |
78,169,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Csf2rb2
|
UTSW |
15 |
78,176,760 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7453:Csf2rb2
|
UTSW |
15 |
78,169,491 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7705:Csf2rb2
|
UTSW |
15 |
78,168,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7788:Csf2rb2
|
UTSW |
15 |
78,177,041 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7849:Csf2rb2
|
UTSW |
15 |
78,168,621 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7851:Csf2rb2
|
UTSW |
15 |
78,173,137 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8057:Csf2rb2
|
UTSW |
15 |
78,169,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8405:Csf2rb2
|
UTSW |
15 |
78,172,093 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8406:Csf2rb2
|
UTSW |
15 |
78,171,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8857:Csf2rb2
|
UTSW |
15 |
78,178,613 (GRCm39) |
missense |
probably null |
0.00 |
|
R8972:Csf2rb2
|
UTSW |
15 |
78,172,115 (GRCm39) |
missense |
probably benign |
|
|
R9262:Csf2rb2
|
UTSW |
15 |
78,168,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Csf2rb2
|
UTSW |
15 |
78,176,735 (GRCm39) |
splice site |
probably null |
|
|
R9343:Csf2rb2
|
UTSW |
15 |
78,171,287 (GRCm39) |
intron |
probably benign |
|
|
R9478:Csf2rb2
|
UTSW |
15 |
78,168,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9713:Csf2rb2
|
UTSW |
15 |
78,176,730 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9789:Csf2rb2
|
UTSW |
15 |
78,169,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF007:Csf2rb2
|
UTSW |
15 |
78,176,126 (GRCm39) |
missense |
probably benign |
0.21 |
|
RF009:Csf2rb2
|
UTSW |
15 |
78,176,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACATGTTTGCTGCCAGAG -3'
(R):5'- CATGGGTGATGGCATGTCAG -3'
Sequencing Primer
(F):5'- TTTGCTGCCAGAGAGCCAAG -3'
(R):5'- ATGGCATGTCAGGTTCCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation