Incidental Mutation 'R4806:Csf2rb2'
| ID |
370703 |
| 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 |
042425-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4806 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78169490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 446
(D446G)
|
| 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: D555G
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: D555G
| 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: D446G
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
| Meta Mutation Damage Score |
0.2104 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,070 (GRCm39) |
|
probably null |
Het |
| 2410137M14Rik |
T |
A |
17: 37,289,746 (GRCm39) |
H28L |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Acd |
A |
G |
8: 106,424,922 (GRCm39) |
V406A |
possibly damaging |
Het |
| Acin1 |
A |
T |
14: 54,916,685 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
T |
C |
4: 110,812,834 (GRCm39) |
V118A |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,565,486 (GRCm39) |
D819G |
probably damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,927 (GRCm39) |
I56F |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,551,908 (GRCm39) |
Q270L |
probably benign |
Het |
| Cadps2 |
C |
T |
6: 23,688,859 (GRCm39) |
R121Q |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,679,688 (GRCm39) |
Y122C |
probably benign |
Het |
| Cklf |
C |
A |
8: 104,984,067 (GRCm39) |
P77T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,611,346 (GRCm39) |
L65P |
probably damaging |
Het |
| Csde1 |
TCCTCGACCT |
TCCT |
3: 102,963,685 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,177,464 (GRCm39) |
E358G |
probably benign |
Het |
| Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,408 (GRCm39) |
T3591A |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,497,030 (GRCm39) |
L734P |
probably damaging |
Het |
| Edem2 |
A |
G |
2: 155,570,913 (GRCm39) |
V39A |
possibly damaging |
Het |
| Glmp |
A |
C |
3: 88,233,320 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
T |
C |
Y: 10,641,885 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
G |
11: 97,240,610 (GRCm39) |
D271A |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,412,750 (GRCm39) |
V587A |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,895,095 (GRCm39) |
T1824S |
probably benign |
Het |
| Ighmbp2 |
A |
T |
19: 3,311,589 (GRCm39) |
I942N |
probably damaging |
Het |
| Ints2 |
A |
G |
11: 86,147,035 (GRCm39) |
L37P |
probably benign |
Het |
| Irgq |
T |
A |
7: 24,233,470 (GRCm39) |
L437Q |
probably damaging |
Het |
| Kcnq4 |
A |
T |
4: 120,570,291 (GRCm39) |
W351R |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,162,288 (GRCm39) |
A500T |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,480,430 (GRCm39) |
D66G |
probably damaging |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mc4r |
T |
A |
18: 66,992,559 (GRCm39) |
I185F |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,061,128 (GRCm39) |
D621G |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,018,947 (GRCm39) |
|
probably null |
Het |
| Naip1 |
G |
A |
13: 100,562,129 (GRCm39) |
A1012V |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Plb1 |
G |
A |
5: 32,447,196 (GRCm39) |
G321D |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,937,816 (GRCm39) |
V1510A |
probably damaging |
Het |
| Polr1e |
T |
A |
4: 45,024,482 (GRCm39) |
M131K |
probably benign |
Het |
| Prdm10 |
T |
A |
9: 31,241,237 (GRCm39) |
*342R |
probably null |
Het |
| Prex2 |
T |
C |
1: 11,138,244 (GRCm39) |
F108L |
probably damaging |
Het |
| Psmg2 |
T |
A |
18: 67,781,992 (GRCm39) |
I186N |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,972,271 (GRCm39) |
E1614D |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 56,994,026 (GRCm39) |
V44M |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,854,735 (GRCm39) |
L639F |
possibly damaging |
Het |
| Smr2 |
T |
G |
5: 88,246,289 (GRCm39) |
L101* |
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
| Stat5b |
G |
T |
11: 100,681,623 (GRCm39) |
H544N |
probably benign |
Het |
| Syk |
A |
T |
13: 52,786,963 (GRCm39) |
Y319F |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,654,428 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,169 (GRCm39) |
T657S |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,314 (GRCm39) |
S500T |
probably benign |
Het |
| Vps45 |
A |
C |
3: 95,953,725 (GRCm39) |
V209G |
probably benign |
Het |
| Xrcc1 |
C |
A |
7: 24,269,905 (GRCm39) |
A442E |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,970,704 (GRCm39) |
V430E |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,623 (GRCm39) |
N125K |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,725,263 (GRCm39) |
D58E |
possibly damaging |
Het |
| Zfp707 |
C |
T |
15: 75,845,000 (GRCm39) |
Q66* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGTACTCCAAGGAGCCTG -3'
(R):5'- AGGCTTTCTGTAGAGCTCACC -3'
Sequencing Primer
(F):5'- AGTGCTGGCTTCAGGCTC -3'
(R):5'- ACCTGCTCTGGCTATACACTAAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation