Incidental Mutation 'R1881:Csf2rb2'
ID 209146
Institutional Source Beutler Lab
Gene Symbol Csf2rb2
Ensembl Gene ENSMUSG00000071714
Gene Name colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage)
Synonyms Bil3, BetaIl3, Il3rb2, AIC2A, Il3r
MMRRC Submission 039902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1881 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78166707-78189921 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 78176735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096356] [ENSMUST00000230115]
AlphaFold P26954
Predicted Effect probably benign
Transcript: ENSMUST00000096356
AA Change: R219Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: R219Q

DomainStartEndE-ValueType
SCOP:d1gh7a1 29 131 1e-57 SMART
FN3 137 225 3.73e-1 SMART
Pfam:IL6Ra-bind 248 342 6.3e-11 PFAM
FN3 343 425 2.83e0 SMART
transmembrane domain 445 467 N/A INTRINSIC
low complexity region 716 743 N/A INTRINSIC
low complexity region 824 845 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000230115
Predicted Effect probably benign
Transcript: ENSMUST00000230753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230932
Meta Mutation Damage Score 0.5877 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.3%
Validation Efficiency 96% (71/74)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C A 11: 84,161,213 (GRCm39) Y1026* probably null Het
Acaca T G 11: 84,191,297 (GRCm39) probably benign Het
Adcy8 C T 15: 64,678,503 (GRCm39) M483I probably damaging Het
Adgrb2 G A 4: 129,904,078 (GRCm39) G735S probably damaging Het
Akap9 A G 5: 4,100,173 (GRCm39) T2612A probably benign Het
Armc1 A T 3: 19,189,060 (GRCm39) S202T possibly damaging Het
Arsj T C 3: 126,232,486 (GRCm39) S411P probably damaging Het
Ash1l T C 3: 88,888,862 (GRCm39) V247A probably benign Het
Camta2 T C 11: 70,562,842 (GRCm39) D935G probably benign Het
Cc2d2a G T 5: 43,898,170 (GRCm39) V1626F probably damaging Het
Cpne3 T A 4: 19,535,266 (GRCm39) R255S probably benign Het
Cramp1 A G 17: 25,196,656 (GRCm39) probably benign Het
Cstf3 A T 2: 104,484,563 (GRCm39) M396L probably benign Het
Ctnnd2 A G 15: 31,005,227 (GRCm39) probably benign Het
Cul7 A T 17: 46,962,888 (GRCm39) Y173F probably damaging Het
Dach1 A T 14: 98,138,832 (GRCm39) M537K probably benign Het
Ddhd2 T C 8: 26,217,727 (GRCm39) I717V probably damaging Het
Dnm1 C T 2: 32,213,742 (GRCm39) V475I probably damaging Het
Dnm3 C T 1: 162,305,517 (GRCm39) probably benign Het
Dsg1c T A 18: 20,405,597 (GRCm39) probably benign Het
Eaf2 A T 16: 36,620,941 (GRCm39) probably benign Het
En1 T A 1: 120,530,904 (GRCm39) V48E unknown Het
Eral1 T A 11: 77,966,875 (GRCm39) H180L possibly damaging Het
Fry T A 5: 150,401,511 (GRCm39) C2760S probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Ifnl2 T A 7: 28,209,112 (GRCm39) R68W probably damaging Het
Il6st A G 13: 112,640,947 (GRCm39) T908A probably damaging Het
Krtap4-1 C T 11: 99,518,990 (GRCm39) G7S probably null Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Mup5 C A 4: 61,752,868 (GRCm39) E52* probably null Het
Myh15 A G 16: 48,891,446 (GRCm39) I189V probably damaging Het
Nav3 T A 10: 109,688,420 (GRCm39) Q619L probably damaging Het
Or14a257 T C 7: 86,138,646 (GRCm39) M38V probably benign Het
Or1p1 A T 11: 74,179,492 (GRCm39) T7S probably benign Het
Or4n4b A G 14: 50,536,472 (GRCm39) I98T probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Pam T C 1: 97,850,876 (GRCm39) T161A probably benign Het
Phf8-ps T A 17: 33,284,258 (GRCm39) D848V probably damaging Het
Pigs T C 11: 78,232,582 (GRCm39) V472A probably benign Het
Plek A T 11: 16,940,111 (GRCm39) N176K probably benign Het
Poc5 A G 13: 96,535,239 (GRCm39) N168S probably benign Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Rttn T A 18: 89,033,336 (GRCm39) S716T probably damaging Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Slc25a20 G A 9: 108,557,408 (GRCm39) probably null Het
Slc5a6 A T 5: 31,194,155 (GRCm39) L634Q probably damaging Het
Slfn3 A G 11: 83,104,202 (GRCm39) I235V possibly damaging Het
Smarcc1 T A 9: 110,004,167 (GRCm39) L407Q probably damaging Het
Spata32 T C 11: 103,101,561 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,723,783 (GRCm39) probably null Het
Thada A G 17: 84,744,130 (GRCm39) V726A probably benign Het
Tmed7 A T 18: 46,721,622 (GRCm39) probably null Het
Tmem161a G A 8: 70,633,435 (GRCm39) G94S probably null Het
Tmem81 T A 1: 132,435,948 (GRCm39) probably benign Het
Trim63 C A 4: 134,043,702 (GRCm39) A55E probably damaging Het
Trmt1 A C 8: 85,415,896 (GRCm39) probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Tshz3 T C 7: 36,471,079 (GRCm39) S1023P possibly damaging Het
Upk3bl G A 5: 136,086,157 (GRCm39) R31Q probably benign Het
Usp40 T C 1: 87,921,993 (GRCm39) D290G probably benign Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r26 T A 6: 57,985,650 (GRCm39) T180S probably benign Het
Wdr48 G T 9: 119,738,606 (GRCm39) V89L probably benign Het
Wdr6 G T 9: 108,450,378 (GRCm39) probably null Het
Zfp345 A G 2: 150,314,275 (GRCm39) Y421H probably damaging Het
Other mutations in Csf2rb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Csf2rb2 APN 15 78,169,047 (GRCm39) missense possibly damaging 0.78
IGL00765:Csf2rb2 APN 15 78,176,916 (GRCm39) missense probably benign 0.17
IGL01383:Csf2rb2 APN 15 78,181,243 (GRCm39) missense possibly damaging 0.90
IGL01975:Csf2rb2 APN 15 78,173,086 (GRCm39) missense probably benign 0.01
IGL02330:Csf2rb2 APN 15 78,169,328 (GRCm39) missense possibly damaging 0.85
IGL02365:Csf2rb2 APN 15 78,171,260 (GRCm39) missense possibly damaging 0.92
IGL02756:Csf2rb2 APN 15 78,169,049 (GRCm39) missense possibly damaging 0.95
R0269:Csf2rb2 UTSW 15 78,173,065 (GRCm39) missense probably benign 0.09
R0462:Csf2rb2 UTSW 15 78,169,373 (GRCm39) missense probably damaging 1.00
R0540:Csf2rb2 UTSW 15 78,172,108 (GRCm39) missense probably benign 0.00
R0607:Csf2rb2 UTSW 15 78,172,108 (GRCm39) missense probably benign 0.00
R0636:Csf2rb2 UTSW 15 78,176,160 (GRCm39) nonsense probably null
R0782:Csf2rb2 UTSW 15 78,170,951 (GRCm39) missense probably damaging 0.98
R1387:Csf2rb2 UTSW 15 78,182,414 (GRCm39) missense probably damaging 0.99
R1799:Csf2rb2 UTSW 15 78,181,268 (GRCm39) missense probably damaging 1.00
R2079:Csf2rb2 UTSW 15 78,172,207 (GRCm39) missense probably benign 0.13
R2108:Csf2rb2 UTSW 15 78,176,744 (GRCm39) missense probably damaging 0.99
R2359:Csf2rb2 UTSW 15 78,176,976 (GRCm39) missense probably benign 0.39
R4614:Csf2rb2 UTSW 15 78,175,902 (GRCm39) missense probably damaging 1.00
R4806:Csf2rb2 UTSW 15 78,169,490 (GRCm39) missense probably benign 0.11
R4900:Csf2rb2 UTSW 15 78,170,174 (GRCm39) splice site probably null
R5206:Csf2rb2 UTSW 15 78,176,952 (GRCm39) missense probably benign
R5270:Csf2rb2 UTSW 15 78,176,182 (GRCm39) splice site probably null
R5427:Csf2rb2 UTSW 15 78,173,111 (GRCm39) missense probably damaging 1.00
R6633:Csf2rb2 UTSW 15 78,173,152 (GRCm39) missense probably benign 0.00
R7067:Csf2rb2 UTSW 15 78,176,694 (GRCm39) missense probably damaging 1.00
R7102:Csf2rb2 UTSW 15 78,181,272 (GRCm39) missense probably damaging 1.00
R7117:Csf2rb2 UTSW 15 78,169,385 (GRCm39) missense probably damaging 1.00
R7423:Csf2rb2 UTSW 15 78,176,760 (GRCm39) missense possibly damaging 0.65
R7453:Csf2rb2 UTSW 15 78,169,491 (GRCm39) missense probably benign 0.14
R7705:Csf2rb2 UTSW 15 78,168,774 (GRCm39) missense probably benign 0.02
R7788:Csf2rb2 UTSW 15 78,177,041 (GRCm39) missense probably benign 0.12
R7849:Csf2rb2 UTSW 15 78,168,621 (GRCm39) missense probably benign 0.09
R7851:Csf2rb2 UTSW 15 78,173,137 (GRCm39) missense probably benign 0.10
R8057:Csf2rb2 UTSW 15 78,169,206 (GRCm39) missense probably damaging 0.99
R8405:Csf2rb2 UTSW 15 78,172,093 (GRCm39) missense possibly damaging 0.85
R8406:Csf2rb2 UTSW 15 78,171,216 (GRCm39) missense probably benign 0.00
R8857:Csf2rb2 UTSW 15 78,178,613 (GRCm39) missense probably null 0.00
R8972:Csf2rb2 UTSW 15 78,172,115 (GRCm39) missense probably benign
R9262:Csf2rb2 UTSW 15 78,168,535 (GRCm39) missense probably damaging 1.00
R9311:Csf2rb2 UTSW 15 78,176,735 (GRCm39) splice site probably null
R9343:Csf2rb2 UTSW 15 78,171,287 (GRCm39) intron probably benign
R9478:Csf2rb2 UTSW 15 78,168,965 (GRCm39) missense probably benign 0.00
R9713:Csf2rb2 UTSW 15 78,176,730 (GRCm39) missense possibly damaging 0.78
R9789:Csf2rb2 UTSW 15 78,169,196 (GRCm39) missense probably benign 0.06
RF007:Csf2rb2 UTSW 15 78,176,126 (GRCm39) missense probably benign 0.21
RF009:Csf2rb2 UTSW 15 78,176,127 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTTGAGGTAGGGCAGATCC -3'
(R):5'- TCCTGGCTTTCATCAAAGGAC -3'

Sequencing Primer
(F):5'- GCAGATCCTGGAGCCTTACTC -3'
(R):5'- GCTTATAAGCGGCTTCAGGACTC -3'
Posted On 2014-06-30