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) question?
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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