Incidental Mutation 'R5270:Csf2rb2'
ID |
400233 |
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 |
042835-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5270 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 78176182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
AlphaFold |
P26954 |
Predicted Effect |
probably null
Transcript: ENSMUST00000096356
|
SMART Domains |
Protein: ENSMUSP00000094083 Gene: ENSMUSG00000071714
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 null
Transcript: ENSMUST00000230115
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230932
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (59/60) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
T |
C |
19: 55,282,650 (GRCm39) |
V585A |
possibly damaging |
Het |
Adam6a |
A |
T |
12: 113,507,747 (GRCm39) |
H40L |
possibly damaging |
Het |
Adamts20 |
G |
A |
15: 94,180,400 (GRCm39) |
P1752S |
probably benign |
Het |
Atp5if1 |
A |
G |
4: 132,260,611 (GRCm39) |
F27L |
probably damaging |
Het |
B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
Ciz1 |
C |
A |
2: 32,264,511 (GRCm39) |
|
probably null |
Het |
Crb1 |
T |
A |
1: 139,164,602 (GRCm39) |
Y1174F |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,918,312 (GRCm39) |
M433K |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,783,270 (GRCm39) |
I735V |
probably benign |
Het |
Dpp6 |
C |
T |
5: 27,839,532 (GRCm39) |
S349L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,026,778 (GRCm39) |
N1256K |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,244 (GRCm39) |
V255A |
probably damaging |
Het |
Gabrb1 |
A |
T |
5: 72,265,669 (GRCm39) |
D155V |
probably damaging |
Het |
Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
Hcrt |
T |
C |
11: 100,652,823 (GRCm39) |
T64A |
probably damaging |
Het |
Henmt1 |
G |
A |
3: 108,867,530 (GRCm39) |
R355H |
probably benign |
Het |
Hrh1 |
C |
A |
6: 114,458,179 (GRCm39) |
R487S |
possibly damaging |
Het |
Ints2 |
T |
C |
11: 86,106,621 (GRCm39) |
S930G |
probably damaging |
Het |
Irs2 |
G |
A |
8: 11,056,678 (GRCm39) |
Q585* |
probably null |
Het |
Kcns1 |
C |
A |
2: 164,010,249 (GRCm39) |
R170L |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,960,467 (GRCm39) |
S1351P |
probably damaging |
Het |
Ly9 |
T |
C |
1: 171,428,730 (GRCm39) |
T297A |
probably damaging |
Het |
M6pr |
G |
A |
6: 122,292,048 (GRCm39) |
D127N |
possibly damaging |
Het |
Macir |
T |
C |
1: 97,573,720 (GRCm39) |
Q115R |
probably damaging |
Het |
Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
Nit2 |
G |
A |
16: 56,977,494 (GRCm39) |
P179S |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,994,424 (GRCm39) |
M516T |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,702,528 (GRCm39) |
I1136N |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,468 (GRCm39) |
M243V |
probably damaging |
Het |
Prdm9 |
G |
T |
17: 15,773,625 (GRCm39) |
T257K |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,552,819 (GRCm39) |
L2085P |
probably damaging |
Het |
Rasgrf1 |
A |
C |
9: 89,908,747 (GRCm39) |
E1240D |
probably benign |
Het |
Rrh |
T |
C |
3: 129,606,998 (GRCm39) |
I142V |
probably benign |
Het |
Saal1 |
G |
T |
7: 46,351,157 (GRCm39) |
|
probably benign |
Het |
Sdcbp2 |
A |
G |
2: 151,426,812 (GRCm39) |
I70V |
probably benign |
Het |
Skida1 |
C |
A |
2: 18,052,460 (GRCm39) |
A231S |
probably benign |
Het |
Smtnl2 |
T |
A |
11: 72,290,743 (GRCm39) |
T401S |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Spag4 |
G |
T |
2: 155,907,853 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,960,283 (GRCm39) |
M179V |
probably benign |
Het |
Tm9sf1 |
G |
T |
14: 55,873,938 (GRCm39) |
T520N |
probably damaging |
Het |
Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
Vmn1r47 |
A |
T |
6: 89,999,525 (GRCm39) |
Q219L |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,258,528 (GRCm39) |
C539S |
probably damaging |
Het |
Wdr17 |
G |
T |
8: 55,096,221 (GRCm39) |
S1024R |
probably benign |
Het |
Zc3h4 |
A |
G |
7: 16,168,440 (GRCm39) |
T850A |
unknown |
Het |
Zfa-ps |
A |
G |
10: 52,419,552 (GRCm39) |
|
noncoding transcript |
Het |
Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
Zfp353-ps |
G |
T |
8: 42,534,572 (GRCm39) |
|
noncoding transcript |
Het |
Zfp607a |
A |
T |
7: 27,577,730 (GRCm39) |
K267* |
probably null |
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 |
|
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 |
R7067:Csf2rb2
|
UTSW |
15 |
78,176,694 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CAAAGAGGTATGGTCCTGGG -3'
(R):5'- TCCCTGAGTTCGTTCAAACAC -3'
Sequencing Primer
(F):5'- AGGTATGGTCCTGGGGATAAG -3'
(R):5'- CACTCAATATTTAGAGCTGGTTCC -3'
|
Posted On |
2016-07-06 |