Incidental Mutation 'R9478:Csf2rb2'
ID |
715955 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9478 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 78168965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 730
(G730V)
|
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 benign
Transcript: ENSMUST00000096356
AA Change: G730V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000094083 Gene: ENSMUSG00000071714 AA Change: G730V
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
AA Change: G621V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,451,573 (GRCm39) |
I886F |
possibly damaging |
Het |
3100002H09Rik |
A |
G |
4: 124,504,151 (GRCm39) |
S134P |
unknown |
Het |
Abcf2 |
A |
G |
5: 24,770,940 (GRCm39) |
L604P |
possibly damaging |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atg14 |
G |
T |
14: 47,783,138 (GRCm39) |
H373Q |
probably damaging |
Het |
Atmin |
C |
T |
8: 117,681,537 (GRCm39) |
H179Y |
probably damaging |
Het |
Catsperg1 |
G |
T |
7: 28,897,777 (GRCm39) |
P197T |
possibly damaging |
Het |
Ccdc7b |
C |
T |
8: 129,837,473 (GRCm39) |
Q155* |
probably null |
Het |
Cep85l |
T |
G |
10: 53,224,875 (GRCm39) |
E238A |
possibly damaging |
Het |
Cfap119 |
T |
C |
7: 127,184,087 (GRCm39) |
|
probably null |
Het |
Cntln |
G |
A |
4: 84,897,630 (GRCm39) |
V406I |
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,034,997 (GRCm39) |
L225Q |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,367,962 (GRCm39) |
F511I |
probably damaging |
Het |
Dsg1b |
A |
T |
18: 20,531,008 (GRCm39) |
Y453F |
|
Het |
Dync1h1 |
T |
C |
12: 110,625,137 (GRCm39) |
F3829L |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Esco2 |
C |
A |
14: 66,068,657 (GRCm39) |
G218* |
probably null |
Het |
Gale |
C |
T |
4: 135,692,574 (GRCm39) |
|
probably benign |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,766,029 (GRCm39) |
D55G |
possibly damaging |
Het |
Il17ra |
A |
G |
6: 120,451,336 (GRCm39) |
D170G |
possibly damaging |
Het |
Inha |
A |
G |
1: 75,486,562 (GRCm39) |
S286G |
probably benign |
Het |
Kif1b |
C |
T |
4: 149,345,616 (GRCm39) |
|
probably null |
Het |
Klhl24 |
T |
G |
16: 19,941,763 (GRCm39) |
S570R |
possibly damaging |
Het |
Krt87 |
G |
A |
15: 101,385,449 (GRCm39) |
R308W |
probably benign |
Het |
Lama2 |
T |
A |
10: 26,891,478 (GRCm39) |
E2545V |
probably damaging |
Het |
Lztfl1 |
T |
C |
9: 123,537,167 (GRCm39) |
K165E |
possibly damaging |
Het |
Mab21l3 |
A |
T |
3: 101,725,987 (GRCm39) |
D336E |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,345,242 (GRCm39) |
I83T |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,812,941 (GRCm39) |
D458G |
probably benign |
Het |
Ncbp3 |
A |
G |
11: 72,968,768 (GRCm39) |
D513G |
probably damaging |
Het |
Neb |
T |
A |
2: 52,078,788 (GRCm39) |
K5818N |
probably benign |
Het |
Nol4 |
G |
A |
18: 23,053,934 (GRCm39) |
P120S |
probably damaging |
Het |
Oit3 |
C |
A |
10: 59,274,464 (GRCm39) |
C112F |
probably damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,051 (GRCm39) |
T61S |
probably benign |
Het |
Or4b1 |
C |
A |
2: 89,979,595 (GRCm39) |
A252S |
possibly damaging |
Het |
Or5p52 |
G |
A |
7: 107,502,238 (GRCm39) |
V105M |
probably damaging |
Het |
Or6c6 |
T |
A |
10: 129,186,960 (GRCm39) |
M176K |
possibly damaging |
Het |
Pank4 |
G |
A |
4: 155,064,565 (GRCm39) |
R708Q |
probably benign |
Het |
Plch1 |
T |
A |
3: 63,606,825 (GRCm39) |
L1026F |
probably benign |
Het |
Poglut3 |
T |
C |
9: 53,303,236 (GRCm39) |
F232L |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,197,573 (GRCm39) |
I772N |
probably damaging |
Het |
Purb |
A |
G |
11: 6,425,424 (GRCm39) |
F155L |
probably damaging |
Het |
Rcor2 |
C |
T |
19: 7,248,794 (GRCm39) |
R256W |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,417,545 (GRCm39) |
L1189P |
probably benign |
Het |
Scn1a |
T |
C |
2: 66,156,493 (GRCm39) |
E472G |
probably benign |
Het |
Sema3e |
T |
C |
5: 14,286,386 (GRCm39) |
Y536H |
probably damaging |
Het |
Serpina3n |
A |
T |
12: 104,378,672 (GRCm39) |
I331F |
possibly damaging |
Het |
Sertad3 |
T |
C |
7: 27,175,679 (GRCm39) |
S38P |
probably damaging |
Het |
Sfrp4 |
G |
T |
13: 19,807,610 (GRCm39) |
R3L |
unknown |
Het |
Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
Snrnp200 |
G |
A |
2: 127,076,993 (GRCm39) |
|
probably null |
Het |
Sumo1 |
A |
G |
1: 59,694,615 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 76,154,387 (GRCm39) |
K2020E |
probably damaging |
Het |
Tcp10a |
A |
T |
17: 7,601,740 (GRCm39) |
T247S |
probably benign |
Het |
Tgds |
T |
C |
14: 118,352,544 (GRCm39) |
D290G |
possibly damaging |
Het |
Trav7d-3 |
A |
T |
14: 52,982,054 (GRCm39) |
I32F |
possibly damaging |
Het |
Vps41 |
A |
G |
13: 19,046,913 (GRCm39) |
N788D |
|
Het |
Zfp521 |
G |
A |
18: 13,950,372 (GRCm39) |
T1194I |
probably damaging |
Het |
Zmynd8 |
C |
A |
2: 165,649,569 (GRCm39) |
K841N |
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 |
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 |
|
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'- CTGAAGAACAAGGAGGCCTTCG -3'
(R):5'- CAGGCTATGGATGTGCAGTG -3'
Sequencing Primer
(F):5'- GCTCTCCTGGGATCACTGTG -3'
(R):5'- CTTCCGTGGAGCCAAAGGAG -3'
|
Posted On |
2022-06-15 |