Incidental Mutation 'IGL01975:Csf2rb2'
ID |
182641 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01975
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78173086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 258
(I258T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
AlphaFold |
P26954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096356
AA Change: I367T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000094083 Gene: ENSMUSG00000071714 AA Change: I367T
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 |
noncoding transcript
Transcript: ENSMUST00000183491
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230115
AA Change: I258T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230932
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
C |
T |
5: 8,217,396 (GRCm39) |
C133Y |
probably damaging |
Het |
Akap3 |
G |
T |
6: 126,850,963 (GRCm39) |
S827I |
probably damaging |
Het |
Arhgap20 |
C |
T |
9: 51,761,097 (GRCm39) |
Q947* |
probably null |
Het |
Egln2 |
T |
C |
7: 26,859,745 (GRCm39) |
I323V |
possibly damaging |
Het |
Erlin1 |
C |
A |
19: 44,025,370 (GRCm39) |
G348V |
probably damaging |
Het |
Fbxo38 |
C |
T |
18: 62,648,484 (GRCm39) |
A685T |
probably damaging |
Het |
Gm10272 |
G |
A |
10: 77,542,608 (GRCm39) |
C50Y |
probably damaging |
Het |
Gm11559 |
G |
T |
11: 99,755,682 (GRCm39) |
Q110H |
unknown |
Het |
Gpr75 |
T |
C |
11: 30,841,835 (GRCm39) |
S247P |
probably benign |
Het |
Grid1 |
A |
T |
14: 35,045,383 (GRCm39) |
M409L |
probably benign |
Het |
Herc3 |
A |
C |
6: 58,893,561 (GRCm39) |
D941A |
possibly damaging |
Het |
Ilf3 |
T |
A |
9: 21,303,675 (GRCm39) |
S166T |
probably benign |
Het |
Kcnu1 |
A |
C |
8: 26,424,525 (GRCm39) |
E273D |
probably benign |
Het |
Kdm8 |
A |
G |
7: 125,051,529 (GRCm39) |
S41G |
probably benign |
Het |
Ldlr |
G |
A |
9: 21,644,993 (GRCm39) |
V174I |
probably benign |
Het |
Lpar5 |
T |
C |
6: 125,058,750 (GRCm39) |
L157P |
probably damaging |
Het |
Mcrs1 |
A |
G |
15: 99,141,559 (GRCm39) |
|
probably null |
Het |
Ndst3 |
T |
A |
3: 123,395,163 (GRCm39) |
Y489F |
possibly damaging |
Het |
Or6c69c |
A |
G |
10: 129,911,139 (GRCm39) |
I287V |
probably damaging |
Het |
Palmd |
A |
T |
3: 116,717,283 (GRCm39) |
S405T |
probably benign |
Het |
Ptger1 |
T |
C |
8: 84,396,149 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,680,602 (GRCm39) |
K1068M |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
Rnf20 |
T |
A |
4: 49,654,473 (GRCm39) |
D843E |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,567,385 (GRCm39) |
S322P |
possibly damaging |
Het |
Slc22a8 |
T |
A |
19: 8,582,775 (GRCm39) |
I152N |
probably damaging |
Het |
Slc6a21 |
T |
A |
7: 44,937,275 (GRCm39) |
D268E |
probably benign |
Het |
Sstr1 |
A |
G |
12: 58,260,412 (GRCm39) |
N345S |
probably benign |
Het |
Stx17 |
T |
C |
4: 48,180,670 (GRCm39) |
S172P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,018,908 (GRCm39) |
|
probably benign |
Het |
Tpte |
A |
G |
8: 22,839,353 (GRCm39) |
T467A |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
Trav13-2 |
A |
T |
14: 53,872,823 (GRCm39) |
T100S |
possibly damaging |
Het |
Trip12 |
A |
G |
1: 84,792,534 (GRCm39) |
|
probably benign |
Het |
Wdr36 |
A |
G |
18: 32,985,541 (GRCm39) |
H486R |
probably damaging |
Het |
Zswim5 |
T |
C |
4: 116,822,889 (GRCm39) |
I453T |
probably benign |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |