Incidental Mutation 'R4922:Csf2rb'
ID 378719
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 042524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4922 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78210000-78235201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78230667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 470 (V470E)
Ref Sequence ENSEMBL: ENSMUSP00000155092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096355] [ENSMUST00000229678] [ENSMUST00000230264]
AlphaFold P26955
Predicted Effect probably benign
Transcript: ENSMUST00000096355
AA Change: V470E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: V470E

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
AA Change: V470E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000230264
AA Change: V470E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,901,645 (GRCm39) C423F probably damaging Het
Akap11 A T 14: 78,750,220 (GRCm39) Y722* probably null Het
Albfm1 A G 5: 90,727,570 (GRCm39) H396R possibly damaging Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Arfgef3 T A 10: 18,467,934 (GRCm39) R1755S probably damaging Het
Atf7ip A T 6: 136,537,039 (GRCm39) T91S possibly damaging Het
Bcl2 C A 1: 106,640,376 (GRCm39) A79S probably benign Het
Bltp1 T A 3: 37,041,314 (GRCm39) I2564K probably damaging Het
Bmerb1 A G 16: 13,804,683 (GRCm39) H10R possibly damaging Het
Bmp10 C T 6: 87,410,557 (GRCm39) P117S probably benign Het
Bmpr2 A G 1: 59,906,583 (GRCm39) T559A probably benign Het
Cd200r1 A T 16: 44,610,039 (GRCm39) Y86F probably damaging Het
Cemip T A 7: 83,596,308 (GRCm39) probably benign Het
Cfap251 T C 5: 123,394,116 (GRCm39) V335A probably benign Het
Cfap52 A G 11: 67,822,548 (GRCm39) probably null Het
Chml T C 1: 175,514,712 (GRCm39) H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Clec12a A G 6: 129,336,441 (GRCm39) Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 (GRCm39) V370A probably benign Het
Cpsf3 T C 12: 21,351,538 (GRCm39) I353T probably damaging Het
Cyp4a10 C A 4: 115,378,291 (GRCm39) Q126K probably benign Het
Dennd1b T C 1: 139,013,652 (GRCm39) S249P probably damaging Het
Dnase2a A G 8: 85,635,625 (GRCm39) probably null Het
Dpp10 T C 1: 123,305,882 (GRCm39) N490S probably benign Het
Drgx A T 14: 32,330,363 (GRCm39) N160I probably damaging Het
Enc1 C T 13: 97,382,243 (GRCm39) A251V probably benign Het
Fancd2 T C 6: 113,562,434 (GRCm39) V1258A probably benign Het
Fancm G A 12: 65,153,666 (GRCm39) probably null Het
Fbxo16 C T 14: 65,536,657 (GRCm39) T177I probably benign Het
Gm1965 T C 6: 89,123,525 (GRCm39) noncoding transcript Het
Hal A T 10: 93,339,401 (GRCm39) M497L probably damaging Het
Hectd4 T C 5: 121,497,378 (GRCm39) L3936S possibly damaging Het
Hs3st4 G T 7: 123,996,410 (GRCm39) G359W probably damaging Het
Il6st C T 13: 112,639,399 (GRCm39) P608L probably damaging Het
Kctd18 A C 1: 58,004,707 (GRCm39) probably benign Het
Kntc1 T A 5: 123,940,309 (GRCm39) S1636T probably damaging Het
Lrrn1 A T 6: 107,545,311 (GRCm39) S370C probably damaging Het
Mtcl1 A C 17: 66,655,474 (GRCm39) C968G probably benign Het
Mylip G A 13: 45,562,238 (GRCm39) A347T probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncoa4-ps A G 12: 119,226,252 (GRCm39) noncoding transcript Het
Neu4 T A 1: 93,950,200 (GRCm39) V53E probably damaging Het
Nxpe3 T C 16: 55,680,687 (GRCm39) I302V probably benign Het
Or11i1 A T 3: 106,729,576 (GRCm39) C100S probably damaging Het
Or4c15b A T 2: 89,112,811 (GRCm39) L243Q possibly damaging Het
Otos T C 1: 92,572,090 (GRCm39) T79A probably damaging Het
Pde4a T C 9: 21,122,009 (GRCm39) I578T probably damaging Het
Pramel17 T A 4: 101,692,729 (GRCm39) M424L probably benign Het
Prex2 C T 1: 11,240,164 (GRCm39) P927S probably damaging Het
Prune2 A T 19: 17,100,116 (GRCm39) K1873N probably benign Het
Ptk7 C A 17: 46,887,417 (GRCm39) probably null Het
Reln T A 5: 22,200,585 (GRCm39) probably null Het
Rgl2 A G 17: 34,151,749 (GRCm39) probably benign Het
Rnf145 T A 11: 44,448,063 (GRCm39) probably benign Het
Ryr2 T C 13: 11,724,849 (GRCm39) E2488G probably damaging Het
Sgo2b A T 8: 64,379,664 (GRCm39) M1056K possibly damaging Het
Snapc4 A G 2: 26,259,245 (GRCm39) V635A probably benign Het
Snx19 T A 9: 30,348,763 (GRCm39) Y101N probably benign Het
Sorl1 C A 9: 41,925,746 (GRCm39) probably null Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speer4a2 A T 5: 26,289,791 (GRCm39) I212N probably damaging Het
Tmem30b G A 12: 73,592,488 (GRCm39) P209L probably damaging Het
Trbv12-2 G T 6: 41,096,081 (GRCm39) C52F probably damaging Het
Tsc2 T A 17: 24,819,343 (GRCm39) D1304V probably benign Het
Ugt2b36 T C 5: 87,214,183 (GRCm39) Y487C probably damaging Het
Vmn1r10 T A 6: 57,090,811 (GRCm39) N134K probably damaging Het
Wdr27 C A 17: 15,141,016 (GRCm39) probably null Het
Wdr75 T C 1: 45,855,638 (GRCm39) F430L probably damaging Het
Zfp629 A G 7: 127,211,299 (GRCm39) I170T probably damaging 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
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
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'- CCCATATTGAAGACAGGGAGC -3'
(R):5'- AGATTCCATAGACCTCTGTGCC -3'

Sequencing Primer
(F):5'- CTGGCCTTTCTCACAGAGG -3'
(R):5'- ATAGACCTCTGTGCCAGCTAC -3'
Posted On 2016-04-15