Incidental Mutation 'R8315:Csf2rb'
ID 641651
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 067720-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8315 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 78210000-78235201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78231581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 494 (G494D)
Ref Sequence ENSEMBL: ENSMUSP00000094082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096355]
AlphaFold P26955
Predicted Effect possibly damaging
Transcript: ENSMUST00000096355
AA Change: G494D

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: G494D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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
Abca13 A T 11: 9,328,460 (GRCm39) E3511V probably null Het
Abca13 A G 11: 9,535,502 (GRCm39) T4709A probably benign Het
Aff1 G T 5: 103,958,956 (GRCm39) V342F probably damaging Het
Ahnak2 T A 12: 112,745,756 (GRCm39) Q1698L Het
Ajap1 G T 4: 153,516,813 (GRCm39) T176K probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Cct3 A G 3: 88,220,564 (GRCm39) T259A probably benign Het
Cdk8 C T 5: 146,205,061 (GRCm39) L21F probably damaging Het
Cimip4 T C 15: 78,262,686 (GRCm39) R262G probably benign Het
Cstf3 G T 2: 104,420,926 (GRCm39) probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
Dcp2 T C 18: 44,529,071 (GRCm39) I62T probably benign Het
Dnaaf9 ATCCTCCTCCTCCTCCTCC ATCCTCCTCCTCCTCC 2: 130,612,655 (GRCm39) probably benign Het
Dpp8 T C 9: 64,988,133 (GRCm39) *893Q probably null Het
Dpyd A T 3: 119,108,534 (GRCm39) H859L probably benign Het
Dst T C 1: 34,323,501 (GRCm39) probably null Het
Dynlt2a2 A G 17: 15,190,717 (GRCm39) Y81H probably damaging Het
Egfr A G 11: 16,825,027 (GRCm39) I456V probably benign Het
Elf3 A G 1: 135,184,314 (GRCm39) F185L probably benign Het
Emx1 A G 6: 85,171,088 (GRCm39) T164A possibly damaging Het
Fras1 G A 5: 96,891,041 (GRCm39) V2857M probably damaging Het
Gba2 AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA AAA 4: 43,569,937 (GRCm39) probably null Het
Gda T A 19: 21,394,435 (GRCm39) T215S probably benign Het
Gm14443 C T 2: 175,013,640 (GRCm39) probably null Het
Gpr152 C T 19: 4,193,469 (GRCm39) P337S probably damaging Het
H2-T10 A G 17: 36,429,905 (GRCm39) I296T probably benign Het
Hoxd11 G A 2: 74,513,466 (GRCm39) E244K probably benign Het
Inka1 C A 9: 107,861,506 (GRCm39) S270I probably damaging Het
Kazn C T 4: 141,869,002 (GRCm39) D325N Het
Lama2 T C 10: 27,298,655 (GRCm39) N147S probably damaging Het
Lamc1 A T 1: 153,119,167 (GRCm39) N817K probably benign Het
Met T C 6: 17,533,956 (GRCm39) S636P probably damaging Het
Mrgpra3 A T 7: 47,251,051 (GRCm39) M1K probably null Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or10ag2 C A 2: 87,248,995 (GRCm39) A201D probably damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Or8c13 T C 9: 38,091,505 (GRCm39) T205A probably benign Het
Pbx2 A G 17: 34,811,707 (GRCm39) I60M probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pla2g4a T C 1: 149,761,965 (GRCm39) N164S probably benign Het
Poln A G 5: 34,266,717 (GRCm39) M480T probably benign Het
Ppp2r2a T C 14: 67,261,177 (GRCm39) N181S probably damaging Het
Ppp3r2 A C 4: 49,681,705 (GRCm39) F82V probably damaging Het
Prox2 A G 12: 85,142,182 (GRCm39) V7A probably benign Het
Ptpn3 A T 4: 57,270,063 (GRCm39) I33K possibly damaging Het
Rad21l A T 2: 151,497,160 (GRCm39) M318K probably benign Het
Rftn1 A G 17: 50,309,665 (GRCm39) S445P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Rtp4 C T 16: 23,431,998 (GRCm39) P177S possibly damaging Het
Saa4 T A 7: 46,379,052 (GRCm39) N96I possibly damaging Het
Shb A G 4: 45,489,079 (GRCm39) Y266H probably damaging Het
Slc45a4 T G 15: 73,461,405 (GRCm39) Y88S probably damaging Het
Tbccd1 A G 16: 22,641,564 (GRCm39) M312T probably damaging Het
Tecta C T 9: 42,299,121 (GRCm39) probably null Het
Tle1 A T 4: 72,044,428 (GRCm39) C526* probably null Het
Tmem87a C T 2: 120,234,441 (GRCm39) G34D probably damaging Het
Trav13d-1 C A 14: 53,089,059 (GRCm39) Q23K probably benign Het
Txndc11 G T 16: 10,893,465 (GRCm39) T755N possibly damaging Het
Vmn1r223 A G 13: 23,434,339 (GRCm39) D311G probably damaging Het
Vmn2r66 T A 7: 84,643,932 (GRCm39) Y826F possibly damaging Het
Wdr90 A T 17: 26,064,399 (GRCm39) M1824K probably benign Het
Zfp523 G A 17: 28,421,562 (GRCm39) G440D possibly 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
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
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
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'- GCTATAGGGAACAGCATGGC -3'
(R):5'- GAGACCCACAGGCTACAATG -3'

Sequencing Primer
(F):5'- CTTACCTCAGGAGCTTTAGGGCTAAG -3'
(R):5'- GCTACAATGATGTGCACCATG -3'
Posted On 2020-07-28