Incidental Mutation 'R1387:Csf2rb2'
ID 162458
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 039449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1387 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78166707-78189921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78182414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 6 (A6T)
Ref Sequence ENSEMBL: ENSMUSP00000155013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096356] [ENSMUST00000230115]
AlphaFold P26954
Predicted Effect possibly damaging
Transcript: ENSMUST00000096356
AA Change: A6T

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: A6T

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 damaging
Transcript: ENSMUST00000230115
AA Change: A6T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230932
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.4%
Validation Efficiency 99% (82/83)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik T A 9: 98,068,812 (GRCm39) noncoding transcript Het
4930447C04Rik C A 12: 72,962,208 (GRCm39) R52L probably benign Het
Abca13 C T 11: 9,632,085 (GRCm39) Q5002* probably null Het
Acacb T C 5: 114,338,573 (GRCm39) I761T probably benign Het
Acap3 G T 4: 155,983,937 (GRCm39) L134F probably benign Het
Adamtsl1 T C 4: 86,293,230 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,641,295 (GRCm39) V3278A possibly damaging Het
Agxt2 T C 15: 10,380,696 (GRCm39) Y196H probably damaging Het
Akap13 T C 7: 75,235,941 (GRCm39) V172A probably damaging Het
Aqp8 A G 7: 123,065,891 (GRCm39) I229V probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brd10 A G 19: 29,700,853 (GRCm39) I812T probably benign Het
Cacng8 T C 7: 3,463,672 (GRCm39) S275P possibly damaging Het
Catsperg1 T C 7: 28,906,289 (GRCm39) Y138C probably damaging Het
Ccdc93 T G 1: 121,418,918 (GRCm39) L491R probably damaging Het
Cntnap2 T C 6: 47,084,848 (GRCm39) V1103A probably benign Het
Col12a1 C T 9: 79,588,657 (GRCm39) probably benign Het
Col6a3 A G 1: 90,750,138 (GRCm39) probably benign Het
Cyp2j5 T A 4: 96,522,522 (GRCm39) S351C probably damaging Het
Cyth1 A G 11: 118,073,172 (GRCm39) probably benign Het
Dock2 A G 11: 34,223,309 (GRCm39) probably benign Het
Duoxa1 T A 2: 122,134,468 (GRCm39) I262F possibly damaging Het
Dync2h1 T C 9: 7,125,816 (GRCm39) D1930G probably benign Het
Eeig1 T C 2: 32,455,635 (GRCm39) S254P possibly damaging Het
Eno1 C T 4: 150,332,590 (GRCm39) probably benign Het
Fam98a T A 17: 75,845,264 (GRCm39) H494L unknown Het
Fcamr C A 1: 130,732,379 (GRCm39) T122K possibly damaging Het
Foxq1 A G 13: 31,743,288 (GRCm39) D130G probably damaging Het
Glb1 T A 9: 114,249,431 (GRCm39) W5R probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm5431 T A 11: 48,785,842 (GRCm39) R178W possibly damaging Het
Gys2 C T 6: 142,407,009 (GRCm39) V116M probably benign Het
Hif1a C T 12: 73,989,066 (GRCm39) T651I possibly damaging Het
Itgb5 T A 16: 33,720,885 (GRCm39) Y3* probably null Het
Kank3 A G 17: 34,035,205 (GRCm39) N7S possibly damaging Het
Kdm2b G T 5: 123,018,331 (GRCm39) H981Q probably damaging Het
Kdm6a C T X: 18,120,235 (GRCm39) probably benign Het
Kif1a A T 1: 92,983,672 (GRCm39) probably benign Het
Knl1 T A 2: 118,901,211 (GRCm39) S971T possibly damaging Het
Lcn6 T C 2: 25,567,149 (GRCm39) V50A possibly damaging Het
Llgl2 G T 11: 115,743,958 (GRCm39) V762F probably damaging Het
Lpcat4 T C 2: 112,075,021 (GRCm39) F342L probably benign Het
Lrp2 C A 2: 69,287,262 (GRCm39) G3725V probably damaging Het
Map1b T C 13: 99,569,158 (GRCm39) T1188A unknown Het
Mecp2 G A X: 73,079,394 (GRCm39) P362S possibly damaging Het
Mideas C A 12: 84,199,705 (GRCm39) R1005L probably damaging Het
Mmp13 T A 9: 7,282,033 (GRCm39) F445Y possibly damaging Het
Myo5b G T 18: 74,777,272 (GRCm39) probably benign Het
Myo7b A G 18: 32,116,805 (GRCm39) probably benign Het
Nadk2 C A 15: 9,106,870 (GRCm39) L384I possibly damaging Het
Napg A G 18: 63,119,283 (GRCm39) I98V possibly damaging Het
Ncoa1 G T 12: 4,324,790 (GRCm39) N1041K probably benign Het
Nmu A T 5: 76,497,992 (GRCm39) C64* probably null Het
Nobox T A 6: 43,284,132 (GRCm39) K13M probably damaging Het
Nos1 T C 5: 118,091,848 (GRCm39) probably benign Het
Nrg2 A G 18: 36,329,792 (GRCm39) V141A probably damaging Het
Or1b1 T G 2: 36,994,880 (GRCm39) I261L probably benign Het
Or2aj5 T C 16: 19,424,777 (GRCm39) I214V probably damaging Het
Or55b4 T A 7: 102,133,911 (GRCm39) I139L probably benign Het
Phldb2 C T 16: 45,646,357 (GRCm39) E71K possibly damaging Het
Pik3r4 T A 9: 105,521,490 (GRCm39) Y19N probably damaging Het
Pkhd1 A C 1: 20,625,447 (GRCm39) probably benign Het
Pogk G T 1: 166,227,707 (GRCm39) P148Q possibly damaging Het
Pten G T 19: 32,775,496 (GRCm39) A79S probably benign Het
Ptpdc1 A T 13: 48,739,796 (GRCm39) V545E possibly damaging Het
Qdpr G C 5: 45,607,480 (GRCm39) probably benign Het
Rhbdd3 T A 11: 5,054,121 (GRCm39) H83Q probably damaging Het
Rnf6 A G 5: 146,148,055 (GRCm39) V321A probably benign Het
Rtf1 T A 2: 119,536,126 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,500 (GRCm39) V240I probably benign Het
Siah2 A G 3: 58,598,935 (GRCm39) V101A possibly damaging Het
Taok3 A G 5: 117,344,720 (GRCm39) K46R probably damaging Het
Tcaf2 A C 6: 42,601,512 (GRCm39) L849R probably damaging Het
Upf3a T C 8: 13,842,118 (GRCm39) F178S probably damaging Het
Vmn1r218 G A 13: 23,321,478 (GRCm39) G195D probably damaging Het
Vmn2r59 A G 7: 41,695,521 (GRCm39) V297A probably damaging Het
Vmn2r70 T A 7: 85,207,969 (GRCm39) Q836L probably benign Het
Zfp473 A G 7: 44,382,365 (GRCm39) V655A probably benign Het
Zic5 A G 14: 122,696,897 (GRCm39) S573P unknown 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
R1799:Csf2rb2 UTSW 15 78,181,268 (GRCm39) missense probably damaging 1.00
R1881:Csf2rb2 UTSW 15 78,176,735 (GRCm39) splice site probably null
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'- ACCATTGAGCTGGATGCTCCAGAG -3'
(R):5'- TGCAGCCTGGTGCAAGTCTAAC -3'

Sequencing Primer
(F):5'- GATGCTCCAGAGCCAGAC -3'
(R):5'- ATACAGAACCCCGGGTCAAT -3'
Posted On 2014-03-17