Incidental Mutation 'IGL02756:Csf2rb2'
| ID |
306458 |
| 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 # |
IGL02756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78166707-78189921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78169049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 593
(E593G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096356]
[ENSMUST00000230115]
|
| AlphaFold |
P26954 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096356
AA Change: E702G
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: E702G
| 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 |
possibly damaging
Transcript: ENSMUST00000230115
AA Change: E593G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230753
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,970 (GRCm39) |
D54V |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,440,976 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
T |
A |
4: 98,919,399 (GRCm39) |
L53Q |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,447,588 (GRCm39) |
T1461A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,535 (GRCm39) |
V115D |
probably damaging |
Het |
| Cabp4 |
C |
A |
19: 4,188,560 (GRCm39) |
V173L |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,042,672 (GRCm39) |
D230V |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,936,824 (GRCm39) |
I821V |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,944,239 (GRCm39) |
Y1494C |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,951,069 (GRCm39) |
S215T |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,217,795 (GRCm39) |
D136G |
probably damaging |
Het |
| Ddx19b |
T |
C |
8: 111,737,910 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,716 (GRCm39) |
L1396Q |
probably benign |
Het |
| Ermn |
A |
G |
2: 57,937,824 (GRCm39) |
I263T |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,568,880 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Far2 |
A |
T |
6: 148,058,889 (GRCm39) |
I192F |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,218 (GRCm39) |
I29F |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,811 (GRCm39) |
Y251N |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,890 (GRCm39) |
I997V |
possibly damaging |
Het |
| Gprc5d |
A |
G |
6: 135,093,613 (GRCm39) |
V98A |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,342,580 (GRCm39) |
E186G |
probably damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,896,685 (GRCm39) |
T115I |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,689,597 (GRCm39) |
T527M |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,842,332 (GRCm39) |
A512T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,235 (GRCm39) |
D135G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,784,016 (GRCm39) |
V1394A |
probably benign |
Het |
| Nek9 |
A |
C |
12: 85,358,110 (GRCm39) |
|
probably null |
Het |
| Or51q1c |
T |
C |
7: 103,652,866 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,402 (GRCm39) |
S210P |
probably damaging |
Het |
| P2rx2 |
T |
A |
5: 110,490,276 (GRCm39) |
|
probably benign |
Het |
| P4htm |
A |
G |
9: 108,456,977 (GRCm39) |
L410P |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,963,748 (GRCm39) |
W921R |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,175 (GRCm39) |
F288L |
probably benign |
Het |
| Ppp4r3a |
C |
T |
12: 101,024,582 (GRCm39) |
|
probably null |
Het |
| Prss34 |
T |
C |
17: 25,518,251 (GRCm39) |
S144P |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,758,110 (GRCm39) |
T328A |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,391,945 (GRCm39) |
T65S |
probably damaging |
Het |
| Rdh8 |
A |
G |
9: 20,736,637 (GRCm39) |
S235G |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,884,500 (GRCm39) |
K6R |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,587,560 (GRCm39) |
D1025G |
probably benign |
Het |
| Sgo2a |
T |
G |
1: 58,055,509 (GRCm39) |
N564K |
probably damaging |
Het |
| Slc43a3 |
A |
T |
2: 84,774,612 (GRCm39) |
M130L |
probably benign |
Het |
| Soat1 |
T |
C |
1: 156,274,145 (GRCm39) |
I89V |
probably benign |
Het |
| St3gal5 |
A |
G |
6: 72,126,157 (GRCm39) |
D307G |
probably null |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,193 (GRCm39) |
|
noncoding transcript |
Het |
| Tacr2 |
A |
G |
10: 62,097,469 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
T |
15: 66,606,435 (GRCm39) |
T193I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,596,179 (GRCm39) |
T191A |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,374,256 (GRCm39) |
|
probably benign |
Het |
| Usf2 |
A |
T |
7: 30,646,417 (GRCm39) |
C134* |
probably null |
Het |
| Usp14 |
A |
G |
18: 10,001,769 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,692,270 (GRCm39) |
S911P |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,574 (GRCm39) |
S131T |
possibly damaging |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,145 (GRCm39) |
I657T |
probably damaging |
Het |
| Zfp935 |
A |
T |
13: 62,602,701 (GRCm39) |
C166* |
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 |
|
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 |
2015-04-16 |
Incidental Mutation