Incidental Mutation 'R7781:Csf2rb'
ID |
599259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csf2rb
|
Ensembl Gene |
ENSMUSG00000071713 |
Gene Name |
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |
Synonyms |
Il5rb, Il3r, common beta chain, Il3rb1, CDw131, beta c, AIC2B, Bc, Csf2rb1 |
MMRRC Submission |
045837-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7781 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78210000-78235201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78228771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 371
(F371I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096355]
[ENSMUST00000229678]
[ENSMUST00000230264]
|
AlphaFold |
P26955 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096355
AA Change: F371I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000094082 Gene: ENSMUSG00000071713 AA Change: F371I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
SCOP:d1gh7a1
|
29 |
130 |
6e-58 |
SMART |
FN3
|
136 |
224 |
4.44e0 |
SMART |
Blast:FN3
|
245 |
338 |
3e-24 |
BLAST |
SCOP:d1gh7a3
|
245 |
338 |
2e-45 |
SMART |
FN3
|
343 |
426 |
2.41e0 |
SMART |
transmembrane domain
|
446 |
468 |
N/A |
INTRINSIC |
low complexity region
|
716 |
743 |
N/A |
INTRINSIC |
low complexity region
|
824 |
845 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229678
AA Change: F371I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230264
AA Change: F371I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(4) |
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700064H15Rik |
G |
A |
3: 19,682,706 (GRCm39) |
P23S |
unknown |
Het |
Abcc6 |
C |
T |
7: 45,655,030 (GRCm39) |
R487Q |
probably damaging |
Het |
Abl1 |
A |
T |
2: 31,680,709 (GRCm39) |
T334S |
probably damaging |
Het |
Adam6b |
T |
C |
12: 113,454,962 (GRCm39) |
F593S |
probably damaging |
Het |
Alx1 |
A |
T |
10: 102,845,053 (GRCm39) |
M326K |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,758,258 (GRCm39) |
D984V |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,562,644 (GRCm39) |
N202S |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,121,157 (GRCm39) |
V12E |
probably damaging |
Het |
Atl2 |
A |
T |
17: 80,167,260 (GRCm39) |
Y254N |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,116,226 (GRCm39) |
M630T |
probably benign |
Het |
Atp5po |
A |
T |
16: 91,723,417 (GRCm39) |
I124N |
possibly damaging |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bicdl1 |
T |
C |
5: 115,799,546 (GRCm39) |
E181G |
probably damaging |
Het |
Bnipl |
C |
A |
3: 95,151,486 (GRCm39) |
W272L |
probably damaging |
Het |
Catsperd |
A |
T |
17: 56,971,072 (GRCm39) |
H712L |
probably benign |
Het |
Cilp2 |
T |
C |
8: 70,334,997 (GRCm39) |
D667G |
possibly damaging |
Het |
Cntn4 |
A |
C |
6: 106,500,575 (GRCm39) |
K351Q |
probably damaging |
Het |
Coq7 |
A |
T |
7: 118,125,111 (GRCm39) |
I171N |
probably damaging |
Het |
Cyp3a13 |
C |
T |
5: 137,897,136 (GRCm39) |
V393M |
possibly damaging |
Het |
Dennd2a |
A |
G |
6: 39,470,000 (GRCm39) |
V564A |
probably damaging |
Het |
Ear14 |
T |
C |
14: 51,441,468 (GRCm39) |
L108P |
probably damaging |
Het |
Egflam |
C |
A |
15: 7,283,227 (GRCm39) |
V277F |
probably null |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,265,089 (GRCm39) |
M596V |
probably benign |
Het |
Fbxw15 |
T |
A |
9: 109,386,330 (GRCm39) |
T270S |
possibly damaging |
Het |
Gabpb1 |
C |
T |
2: 126,481,120 (GRCm39) |
C342Y |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,251,492 (GRCm39) |
C288* |
probably null |
Het |
Grm8 |
G |
T |
6: 27,285,786 (GRCm39) |
D875E |
probably benign |
Het |
Hdac4 |
C |
A |
1: 91,903,387 (GRCm39) |
R514L |
probably benign |
Het |
Hps4 |
T |
A |
5: 112,518,388 (GRCm39) |
N460K |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,627,394 (GRCm39) |
F565S |
probably damaging |
Het |
Kcnh5 |
C |
A |
12: 75,023,455 (GRCm39) |
V538F |
probably damaging |
Het |
Kcp |
T |
C |
6: 29,497,764 (GRCm39) |
N499S |
probably damaging |
Het |
Klk15 |
T |
C |
7: 43,588,980 (GRCm39) |
L244S |
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,518,440 (GRCm39) |
S266T |
possibly damaging |
Het |
Lemd3 |
A |
G |
10: 120,761,678 (GRCm39) |
F863L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,747,838 (GRCm39) |
V663D |
probably damaging |
Het |
Naa15 |
A |
G |
3: 51,378,904 (GRCm39) |
|
probably null |
Het |
Ndrg3 |
C |
A |
2: 156,770,733 (GRCm39) |
G352* |
probably null |
Het |
Nr2f6 |
G |
T |
8: 71,828,595 (GRCm39) |
N233K |
possibly damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,879 (GRCm39) |
F192S |
probably benign |
Het |
Plxnb2 |
T |
A |
15: 89,041,225 (GRCm39) |
M1774L |
possibly damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rpl23a |
G |
A |
11: 78,073,654 (GRCm39) |
R62W |
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,269,530 (GRCm39) |
R63G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,767,055 (GRCm39) |
D2976G |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,258 (GRCm39) |
Y496H |
probably damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,218,566 (GRCm39) |
V257A |
possibly damaging |
Het |
Slc24a4 |
T |
C |
12: 102,201,112 (GRCm39) |
|
probably null |
Het |
Slc4a1ap |
T |
C |
5: 31,684,822 (GRCm39) |
S153P |
probably damaging |
Het |
Slc4a4 |
A |
T |
5: 89,376,791 (GRCm39) |
E1006V |
possibly damaging |
Het |
Svep1 |
T |
G |
4: 58,069,251 (GRCm39) |
E2845A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,079 (GRCm39) |
N166S |
possibly damaging |
Het |
Tmem231 |
C |
T |
8: 112,644,922 (GRCm39) |
|
probably null |
Het |
Tsc2 |
C |
A |
17: 24,827,089 (GRCm39) |
L873F |
possibly damaging |
Het |
Unc13b |
T |
G |
4: 43,259,546 (GRCm39) |
S1403A |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,001,553 (GRCm39) |
F236L |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,789,714 (GRCm39) |
S431G |
probably benign |
Het |
Wdr7 |
A |
T |
18: 63,910,860 (GRCm39) |
K751* |
probably null |
Het |
Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,931,895 (GRCm39) |
Y366H |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
Zfp607a |
C |
T |
7: 27,565,000 (GRCm39) |
R56C |
possibly damaging |
Het |
|
Other mutations in Csf2rb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00565:Csf2rb
|
APN |
15 |
78,232,714 (GRCm39) |
nonsense |
probably null |
|
IGL00979:Csf2rb
|
APN |
15 |
78,232,304 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Csf2rb
|
APN |
15 |
78,219,502 (GRCm39) |
intron |
probably benign |
|
IGL01724:Csf2rb
|
APN |
15 |
78,220,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01942:Csf2rb
|
APN |
15 |
78,224,692 (GRCm39) |
missense |
probably benign |
|
IGL02479:Csf2rb
|
APN |
15 |
78,225,924 (GRCm39) |
nonsense |
probably null |
|
3-1:Csf2rb
|
UTSW |
15 |
78,228,803 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02802:Csf2rb
|
UTSW |
15 |
78,223,103 (GRCm39) |
missense |
probably benign |
0.00 |
R0133:Csf2rb
|
UTSW |
15 |
78,223,204 (GRCm39) |
unclassified |
probably benign |
|
R0179:Csf2rb
|
UTSW |
15 |
78,220,572 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0487:Csf2rb
|
UTSW |
15 |
78,232,531 (GRCm39) |
missense |
probably benign |
0.00 |
R1544:Csf2rb
|
UTSW |
15 |
78,224,955 (GRCm39) |
missense |
probably benign |
0.02 |
R1619:Csf2rb
|
UTSW |
15 |
78,219,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R1690:Csf2rb
|
UTSW |
15 |
78,232,844 (GRCm39) |
missense |
probably benign |
0.11 |
R1831:Csf2rb
|
UTSW |
15 |
78,232,453 (GRCm39) |
missense |
probably benign |
0.03 |
R3970:Csf2rb
|
UTSW |
15 |
78,225,667 (GRCm39) |
missense |
probably benign |
|
R4922:Csf2rb
|
UTSW |
15 |
78,230,667 (GRCm39) |
missense |
probably benign |
0.02 |
R5151:Csf2rb
|
UTSW |
15 |
78,224,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R5202:Csf2rb
|
UTSW |
15 |
78,233,257 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5398:Csf2rb
|
UTSW |
15 |
78,232,820 (GRCm39) |
missense |
probably benign |
|
R5496:Csf2rb
|
UTSW |
15 |
78,224,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R5786:Csf2rb
|
UTSW |
15 |
78,233,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6166:Csf2rb
|
UTSW |
15 |
78,228,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Csf2rb
|
UTSW |
15 |
78,229,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6350:Csf2rb
|
UTSW |
15 |
78,229,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6899:Csf2rb
|
UTSW |
15 |
78,224,902 (GRCm39) |
missense |
probably benign |
0.01 |
R6984:Csf2rb
|
UTSW |
15 |
78,229,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R7484:Csf2rb
|
UTSW |
15 |
78,223,099 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7671:Csf2rb
|
UTSW |
15 |
78,223,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R7751:Csf2rb
|
UTSW |
15 |
78,225,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7861:Csf2rb
|
UTSW |
15 |
78,233,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8135:Csf2rb
|
UTSW |
15 |
78,232,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8154:Csf2rb
|
UTSW |
15 |
78,224,642 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8299:Csf2rb
|
UTSW |
15 |
78,230,669 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8315:Csf2rb
|
UTSW |
15 |
78,231,581 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8926:Csf2rb
|
UTSW |
15 |
78,224,749 (GRCm39) |
missense |
probably benign |
|
R8948:Csf2rb
|
UTSW |
15 |
78,232,520 (GRCm39) |
missense |
probably benign |
0.05 |
R8950:Csf2rb
|
UTSW |
15 |
78,232,520 (GRCm39) |
missense |
probably benign |
0.05 |
R9265:Csf2rb
|
UTSW |
15 |
78,232,746 (GRCm39) |
missense |
probably benign |
0.08 |
R9510:Csf2rb
|
UTSW |
15 |
78,229,760 (GRCm39) |
critical splice donor site |
probably null |
|
R9755:Csf2rb
|
UTSW |
15 |
78,232,824 (GRCm39) |
nonsense |
probably null |
|
X0024:Csf2rb
|
UTSW |
15 |
78,220,560 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Csf2rb
|
UTSW |
15 |
78,233,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGACCAGCTTGGAGAATTC -3'
(R):5'- CACCTCTCTGAGCCTGAATC -3'
Sequencing Primer
(F):5'- GACCAGCTTGGAGAATTCATTAGAC -3'
(R):5'- GCTCATCAAGAAATTGGACTGTCTCC -3'
|
Posted On |
2019-11-26 |