Incidental Mutation 'R5111:Csf3r'
ID 393847
Institutional Source Beutler Lab
Gene Symbol Csf3r
Ensembl Gene ENSMUSG00000028859
Gene Name colony stimulating factor 3 receptor
Synonyms Csfgr, G-CSFR, Cd114
MMRRC Submission 042699-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R5111 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 125918343-125938233 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 125923861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030673] [ENSMUST00000030673] [ENSMUST00000106162] [ENSMUST00000106162]
AlphaFold P40223
Predicted Effect probably null
Transcript: ENSMUST00000030673
SMART Domains Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859

DomainStartEndE-ValueType
Pfam:Lep_receptor_Ig 24 111 2.3e-30 PFAM
FN3 124 213 5.38e1 SMART
SCOP:d1cd9b2 226 332 3e-15 SMART
Blast:FN3 334 420 3e-30 BLAST
FN3 432 518 2.41e0 SMART
FN3 530 612 1.92e-3 SMART
transmembrane domain 627 649 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000030673
SMART Domains Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859

DomainStartEndE-ValueType
Pfam:Lep_receptor_Ig 24 111 2.3e-30 PFAM
FN3 124 213 5.38e1 SMART
SCOP:d1cd9b2 226 332 3e-15 SMART
Blast:FN3 334 420 3e-30 BLAST
FN3 432 518 2.41e0 SMART
FN3 530 612 1.92e-3 SMART
transmembrane domain 627 649 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106162
SMART Domains Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859

DomainStartEndE-ValueType
Pfam:Lep_receptor_Ig 22 112 6.8e-30 PFAM
FN3 124 213 5.38e1 SMART
SCOP:d1cd9b2 226 332 3e-15 SMART
Blast:FN3 334 420 3e-30 BLAST
FN3 432 518 2.41e0 SMART
FN3 530 612 1.92e-3 SMART
transmembrane domain 627 649 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106162
SMART Domains Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859

DomainStartEndE-ValueType
Pfam:Lep_receptor_Ig 22 112 6.8e-30 PFAM
FN3 124 213 5.38e1 SMART
SCOP:d1cd9b2 226 332 3e-15 SMART
Blast:FN3 334 420 3e-30 BLAST
FN3 432 518 2.41e0 SMART
FN3 530 612 1.92e-3 SMART
transmembrane domain 627 649 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153968
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral neutrophils, with fewer hematopoietic progenitors in bone marrow and impaired expansion and terminal differentiation of progenitors into granulocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,646 (GRCm39) L136* probably null Het
Ankrd17 A T 5: 90,390,858 (GRCm39) S2271T possibly damaging Het
Arhgef10 A G 8: 14,982,408 (GRCm39) D179G probably benign Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Btbd3 T A 2: 138,120,829 (GRCm39) M1K probably null Het
Capns1 A G 7: 29,891,944 (GRCm39) V106A probably benign Het
Ccnjl A G 11: 43,447,544 (GRCm39) T76A probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col6a6 C T 9: 105,586,673 (GRCm39) V1783I possibly damaging Het
Crisp3 T C 17: 40,536,695 (GRCm39) T207A possibly damaging Het
Crxos G A 7: 15,630,142 (GRCm39) probably benign Het
Cyp2a12 A G 7: 26,736,046 (GRCm39) Y485C possibly damaging Het
Echdc2 A T 4: 108,026,994 (GRCm39) probably benign Het
Elp3 A C 14: 65,797,685 (GRCm39) Y329D probably damaging Het
Fbxw16 T C 9: 109,265,796 (GRCm39) D341G probably benign Het
H2-Ab1 T A 17: 34,486,456 (GRCm39) S172T probably damaging Het
Hyal2 T C 9: 107,448,310 (GRCm39) V321A probably benign Het
Ighv6-3 A T 12: 114,355,394 (GRCm39) S98R probably benign Het
Kank3 A G 17: 34,037,155 (GRCm39) E153G possibly damaging Het
Klrb1c C T 6: 128,762,968 (GRCm39) R83H probably benign Het
Krtap16-1 T C 11: 99,877,378 (GRCm39) K9E possibly damaging Het
Liph G A 16: 21,802,820 (GRCm39) S83F probably damaging Het
Lnpep A G 17: 17,798,872 (GRCm39) I261T possibly damaging Het
Mdm2 A T 10: 117,527,126 (GRCm39) V273D possibly damaging Het
Mterf1a A G 5: 3,941,860 (GRCm39) S3P probably benign Het
Myt1 A G 2: 181,437,678 (GRCm39) T172A probably benign Het
Nufip2 T A 11: 77,582,669 (GRCm39) S194R probably benign Het
Nusap1 T A 2: 119,460,837 (GRCm39) L110* probably null Het
Palb2 A T 7: 121,716,528 (GRCm39) C488* probably null Het
Pcdhac1 A T 18: 37,224,558 (GRCm39) N457I probably damaging Het
Per1 A T 11: 68,991,612 (GRCm39) S49C probably damaging Het
Ppargc1b A T 18: 61,443,558 (GRCm39) I535N probably damaging Het
Rb1cc1 T C 1: 6,284,858 (GRCm39) probably benign Het
Rpap1 A T 2: 119,601,728 (GRCm39) L744Q probably damaging Het
Sdk1 A G 5: 142,113,600 (GRCm39) E1549G probably damaging Het
Tnr C T 1: 159,713,798 (GRCm39) T742I probably benign Het
Trp53bp1 A T 2: 121,041,868 (GRCm39) H1229Q probably damaging Het
Unc80 A G 1: 66,567,154 (GRCm39) H920R possibly damaging Het
Urb1 A C 16: 90,548,905 (GRCm39) S2268A probably benign Het
Usp32 A T 11: 84,968,157 (GRCm39) Y169N possibly damaging Het
Vmn2r18 A T 5: 151,485,913 (GRCm39) M527K possibly damaging Het
Vmn2r93 A T 17: 18,546,326 (GRCm39) I733F probably damaging Het
Vstm2l A G 2: 157,777,389 (GRCm39) D89G probably damaging Het
Zdhhc8 G T 16: 18,044,612 (GRCm39) Q303K probably benign Het
Zfand2a A G 5: 139,459,509 (GRCm39) V159A probably benign Het
Zswim6 A G 13: 107,865,170 (GRCm39) noncoding transcript Het
Other mutations in Csf3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Csf3r APN 4 125,925,920 (GRCm39) nonsense probably null
IGL02224:Csf3r APN 4 125,937,332 (GRCm39) missense probably benign 0.36
IGL02558:Csf3r APN 4 125,931,928 (GRCm39) splice site probably benign
R0026:Csf3r UTSW 4 125,925,677 (GRCm39) missense probably benign 0.33
R0033:Csf3r UTSW 4 125,925,677 (GRCm39) missense probably benign 0.33
R0033:Csf3r UTSW 4 125,925,677 (GRCm39) missense probably benign 0.33
R0121:Csf3r UTSW 4 125,923,642 (GRCm39) missense probably benign 0.01
R0413:Csf3r UTSW 4 125,933,460 (GRCm39) splice site probably benign
R0456:Csf3r UTSW 4 125,929,654 (GRCm39) missense probably damaging 0.98
R0479:Csf3r UTSW 4 125,937,616 (GRCm39) missense probably damaging 0.98
R1052:Csf3r UTSW 4 125,936,781 (GRCm39) splice site probably null
R1466:Csf3r UTSW 4 125,925,725 (GRCm39) splice site probably benign
R1512:Csf3r UTSW 4 125,923,777 (GRCm39) missense possibly damaging 0.75
R1902:Csf3r UTSW 4 125,936,711 (GRCm39) missense probably damaging 1.00
R1905:Csf3r UTSW 4 125,936,538 (GRCm39) missense probably benign 0.12
R2520:Csf3r UTSW 4 125,929,145 (GRCm39) missense probably benign 0.06
R3424:Csf3r UTSW 4 125,937,549 (GRCm39) missense probably damaging 1.00
R3705:Csf3r UTSW 4 125,926,078 (GRCm39) missense possibly damaging 0.76
R3907:Csf3r UTSW 4 125,928,240 (GRCm39) missense probably benign 0.00
R4514:Csf3r UTSW 4 125,933,653 (GRCm39) missense possibly damaging 0.61
R4817:Csf3r UTSW 4 125,931,449 (GRCm39) nonsense probably null
R5120:Csf3r UTSW 4 125,929,620 (GRCm39) missense probably benign 0.00
R5308:Csf3r UTSW 4 125,929,137 (GRCm39) missense probably benign 0.00
R5912:Csf3r UTSW 4 125,923,753 (GRCm39) missense probably damaging 1.00
R6018:Csf3r UTSW 4 125,937,414 (GRCm39) missense probably benign 0.01
R6024:Csf3r UTSW 4 125,931,310 (GRCm39) splice site probably null
R7144:Csf3r UTSW 4 125,937,515 (GRCm39) missense probably benign 0.03
R7615:Csf3r UTSW 4 125,931,449 (GRCm39) nonsense probably null
R7717:Csf3r UTSW 4 125,931,403 (GRCm39) missense probably damaging 1.00
R8443:Csf3r UTSW 4 125,923,712 (GRCm39) missense possibly damaging 0.77
R8935:Csf3r UTSW 4 125,937,200 (GRCm39) missense probably benign 0.00
R9131:Csf3r UTSW 4 125,923,813 (GRCm39) missense probably benign
R9383:Csf3r UTSW 4 125,937,239 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TATGGAGACTGCAAGATGAGCC -3'
(R):5'- AGACAGGTGGTTGGCTCTAC -3'

Sequencing Primer
(F):5'- GATGAGCCCATCCAACCTGG -3'
(R):5'- TGGTTGGCTCTACAAGAACC -3'
Posted On 2016-06-15