Incidental Mutation 'R5786:Csf2rb'
ID 448048
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5786 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78210000-78235201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78233155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 821 (Y821H)
Ref Sequence ENSEMBL: ENSMUSP00000154836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096355] [ENSMUST00000229678] [ENSMUST00000230264]
AlphaFold P26955
Predicted Effect probably damaging
Transcript: ENSMUST00000096355
AA Change: Y821H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: Y821H

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000183523
Predicted Effect probably benign
Transcript: ENSMUST00000229678
Predicted Effect probably damaging
Transcript: ENSMUST00000230264
AA Change: Y821H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,122 (GRCm39) D200E probably damaging Het
4930578I06Rik C A 14: 64,210,691 (GRCm39) R179L probably damaging Het
Abhd5 A G 9: 122,192,868 (GRCm39) probably null Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Apob C T 12: 8,065,304 (GRCm39) T4091I possibly damaging Het
Avil G A 10: 126,852,368 (GRCm39) probably null Het
Cacna1a T C 8: 85,142,350 (GRCm39) probably benign Het
Capn7 T C 14: 31,082,102 (GRCm39) L436P probably damaging Het
Ccdc33 A G 9: 57,937,235 (GRCm39) S655P possibly damaging Het
Ccr6 T C 17: 8,475,244 (GRCm39) S150P probably damaging Het
Cd1d1 T C 3: 86,906,095 (GRCm39) N60S probably benign Het
Ckap5 A G 2: 91,446,641 (GRCm39) probably null Het
Col15a1 A G 4: 47,280,865 (GRCm39) E753G possibly damaging Het
Col1a2 C T 6: 4,530,223 (GRCm39) R699W unknown Het
Cracd T C 5: 77,014,043 (GRCm39) probably null Het
Cyp3a11 A G 5: 145,799,284 (GRCm39) I301T possibly damaging Het
Dpp3 C T 19: 4,968,350 (GRCm39) G241R possibly damaging Het
Dpyd G T 3: 119,220,886 (GRCm39) M952I probably damaging Het
Dsg3 A T 18: 20,654,628 (GRCm39) I111L possibly damaging Het
Ect2 A G 3: 27,201,102 (GRCm39) F123L probably damaging Het
Ehmt2 G C 17: 35,129,719 (GRCm39) D961H probably damaging Het
Esp1 A G 17: 41,041,809 (GRCm39) I34V probably benign Het
Fam171b G A 2: 83,708,580 (GRCm39) V361I probably benign Het
Flnc T A 6: 29,459,536 (GRCm39) Y2545* probably null Het
Fmo4 C T 1: 162,631,286 (GRCm39) G227D probably benign Het
Grn C T 11: 102,324,869 (GRCm39) Q153* probably null Het
H2-DMb1 T G 17: 34,372,408 (GRCm39) S12R possibly damaging Het
Ica1 G T 6: 8,672,391 (GRCm39) N203K possibly damaging Het
Kdm4c C A 4: 74,277,722 (GRCm39) T792K probably damaging Het
Kif19a T A 11: 114,670,049 (GRCm39) Y81* probably null Het
Kifc2 G T 15: 76,548,578 (GRCm39) C440F probably damaging Het
Lpin2 A G 17: 71,537,268 (GRCm39) T234A probably benign Het
Lysmd2 C A 9: 75,542,885 (GRCm39) P164Q probably benign Het
Maea T A 5: 33,526,027 (GRCm39) D234E probably benign Het
Map4k1 T A 7: 28,699,445 (GRCm39) V572E probably damaging Het
Med6 C T 12: 81,620,733 (GRCm39) G166R probably null Het
Mtmr10 T C 7: 63,987,458 (GRCm39) I666T probably damaging Het
Myh14 T A 7: 44,262,887 (GRCm39) K1777M probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Obscn A G 11: 58,923,517 (GRCm39) S6461P probably damaging Het
Or1j4 T C 2: 36,740,061 (GRCm39) M1T probably null Het
Osbpl7 T A 11: 96,956,658 (GRCm39) V567E probably damaging Het
Rad51ap2 A T 12: 11,506,921 (GRCm39) D281V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl24 C A 16: 55,787,516 (GRCm39) H59N possibly damaging Het
Rtl1 G A 12: 109,559,053 (GRCm39) L929F possibly damaging Het
Runx3 C T 4: 134,890,575 (GRCm39) T159I probably damaging Het
Serpine2 T C 1: 79,794,637 (GRCm39) I99V probably benign Het
Slc12a6 C A 2: 112,115,067 (GRCm39) P12Q probably benign Het
Slc25a18 T C 6: 120,769,035 (GRCm39) L184P probably damaging Het
Smg1 T C 7: 117,812,120 (GRCm39) D57G probably benign Het
Spdye4c T A 2: 128,438,761 (GRCm39) *340K probably null Het
Srsf5 G A 12: 80,996,311 (GRCm39) E162K possibly damaging Het
Ssc5d T C 7: 4,939,817 (GRCm39) V751A probably benign Het
Tcf3 T C 10: 80,255,333 (GRCm39) N157S probably benign Het
Tdrd7 T C 4: 45,989,082 (GRCm39) V71A probably benign Het
Tex14 T C 11: 87,405,121 (GRCm39) C678R probably damaging Het
Tgm3 A T 2: 129,868,704 (GRCm39) K214* probably null Het
Vps53 A G 11: 75,953,833 (GRCm39) I659T probably benign Het
Zfp597 A T 16: 3,684,023 (GRCm39) C244* probably null Het
Zfp933 T A 4: 147,912,864 (GRCm39) probably null Het
Other mutations in Csf2rb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7781:Csf2rb UTSW 15 78,228,771 (GRCm39) missense probably benign 0.00
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'- CACCAGGGTTTGAGGACTATG -3'
(R):5'- AGACTGGCTATTGTCCCAAGG -3'

Sequencing Primer
(F):5'- AGGACTATGTGGAGCTGCCTC -3'
(R):5'- AGGTAGTCCTGATGCTTTAGGGAC -3'
Posted On 2016-12-15