Incidental Mutation 'R0026:Csf3r'
ID 262071
Institutional Source Beutler Lab
Gene Symbol Csf3r
Ensembl Gene ENSMUSG00000028859
Gene Name colony stimulating factor 3 receptor
Synonyms Csfgr, G-CSFR, Cd114
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R0026 (G1)
Quality Score 52
Status Validated
Chromosome 4
Chromosomal Location 125918343-125938233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125925677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 151 (T151A)
Ref Sequence ENSEMBL: ENSMUSP00000101768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030673] [ENSMUST00000106162]
AlphaFold P40223
Predicted Effect probably benign
Transcript: ENSMUST00000030673
AA Change: T151A

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: T151A

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 benign
Transcript: ENSMUST00000106162
AA Change: T151A

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: T151A

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 0.2036 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,566 (GRCm39) I585N possibly damaging Het
A830005F24Rik C T 13: 48,667,848 (GRCm39) probably benign Het
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Adam19 G T 11: 46,027,086 (GRCm39) C573F probably damaging Het
Aff3 A G 1: 38,242,974 (GRCm39) S948P probably benign Het
Anxa3 T A 5: 96,986,260 (GRCm39) Y300N probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Cdc16 T A 8: 13,809,130 (GRCm39) probably null Het
Cep135 C T 5: 76,754,581 (GRCm39) R353* probably null Het
Cma1 A T 14: 56,179,621 (GRCm39) C188S probably damaging Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dbn1 T C 13: 55,625,597 (GRCm39) E275G probably damaging Het
Dlgap2 C T 8: 14,777,363 (GRCm39) Q203* probably null Het
Ephb3 A G 16: 21,033,667 (GRCm39) D251G probably damaging Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Gm10801 T C 2: 98,494,254 (GRCm39) probably benign Het
Got1l1 C T 8: 27,690,276 (GRCm39) V132I probably benign Het
H2-M9 T C 17: 36,952,419 (GRCm39) probably benign Het
Ibtk A G 9: 85,572,356 (GRCm39) V1278A probably benign Het
Kctd3 T C 1: 188,708,818 (GRCm39) T519A probably damaging Het
Lgsn T A 1: 31,242,524 (GRCm39) V202D probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Map1s G A 8: 71,367,282 (GRCm39) G729D probably damaging Het
Mlycd A G 8: 120,137,174 (GRCm39) I465V probably benign Het
Mrgprb1 T C 7: 48,096,952 (GRCm39) R108G possibly damaging Het
Mrgprx2 T A 7: 48,131,771 (GRCm39) H106L possibly damaging Het
Ncor1 T C 11: 62,329,255 (GRCm39) Y6C probably damaging Het
Nfkb1 T C 3: 135,297,334 (GRCm39) D773G probably damaging Het
Nxnl1 A G 8: 72,019,217 (GRCm39) S3P probably damaging Het
Or12d17 T A 17: 37,777,694 (GRCm39) V199D probably damaging Het
Or8b54 G A 9: 38,686,892 (GRCm39) V114I probably benign Het
Otud7a T C 7: 63,385,549 (GRCm39) F338L probably benign Het
Pdcl3 T A 1: 39,030,361 (GRCm39) L14Q probably damaging Het
Pla2g7 T A 17: 43,905,821 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Rapgef5 T C 12: 117,652,896 (GRCm39) S307P probably benign Het
Relt C A 7: 100,499,428 (GRCm39) E164* probably null Het
Rnf185 T C 11: 3,376,617 (GRCm39) D86G probably damaging Het
Rrm2b T C 15: 37,953,985 (GRCm39) E21G probably benign Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Skint5 A T 4: 113,403,665 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,281,468 (GRCm39) S294P probably benign Het
Slc5a2 T A 7: 127,869,225 (GRCm39) I335N probably damaging Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Sstr1 T A 12: 58,259,644 (GRCm39) M89K probably damaging Het
Szt2 A T 4: 118,241,969 (GRCm39) S1612R possibly damaging Het
Taf1c T C 8: 120,330,975 (GRCm39) probably null Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Tmem125 A G 4: 118,399,270 (GRCm39) S54P possibly damaging Het
Ttf1 T A 2: 28,961,361 (GRCm39) I583N possibly damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Unc5b A T 10: 60,610,371 (GRCm39) I482N possibly damaging Het
Unc80 C A 1: 66,560,743 (GRCm39) Q824K probably benign Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vmn2r61 T G 7: 41,924,898 (GRCm39) I484R possibly damaging Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null 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
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
R5111:Csf3r UTSW 4 125,923,861 (GRCm39) splice site 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'- TGGGATGTCTGCTCCTCACAGGTC -3'
(R):5'- TTCTTTGCCACACAATCCGGGATG -3'

Sequencing Primer
(F):5'- CAGTCCACCAAGGAAGTAAGGC -3'
(R):5'- CCAACAGGCTGGGCTTTG -3'
Posted On 2015-02-04