Incidental Mutation 'IGL02224:Csf3r'
ID 285279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf3r
Ensembl Gene ENSMUSG00000028859
Gene Name colony stimulating factor 3 receptor
Synonyms Csfgr, G-CSFR, Cd114
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # IGL02224
Quality Score
Status
Chromosome 4
Chromosomal Location 125918343-125938233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125937332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 739 (N739Y)
Ref Sequence ENSEMBL: ENSMUSP00000101768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030673] [ENSMUST00000030675] [ENSMUST00000106162]
AlphaFold P40223
Predicted Effect probably benign
Transcript: ENSMUST00000030673
AA Change: N739Y

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: N739Y

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: ENSMUST00000030675
SMART Domains Protein: ENSMUSP00000030675
Gene: ENSMUSG00000028861

DomainStartEndE-ValueType
low complexity region 24 40 N/A INTRINSIC
Ribosomal_S15 108 189 4.27e-16 SMART
coiled coil region 211 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106162
AA Change: N739Y

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: N739Y

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: ENSMUST00000124614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140426
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,329,289 (GRCm39) T23S probably damaging Het
Alpk3 G A 7: 80,726,616 (GRCm39) probably benign Het
Atp8b3 A G 10: 80,361,810 (GRCm39) probably benign Het
Atr C T 9: 95,760,682 (GRCm39) R1051C probably damaging Het
B4galt2 T C 4: 117,734,110 (GRCm39) D309G probably benign Het
C130026L21Rik A G 5: 111,730,291 (GRCm39) noncoding transcript Het
Cadm3 A G 1: 173,165,628 (GRCm39) I344T possibly damaging Het
Cd101 T C 3: 100,924,318 (GRCm39) T370A probably benign Het
Col6a5 A T 9: 105,741,534 (GRCm39) S2462T probably damaging Het
Ensa T C 3: 95,535,990 (GRCm39) S108P probably benign Het
Fancd2 T A 6: 113,545,281 (GRCm39) probably null Het
Fbp1 T A 13: 63,035,821 (GRCm39) T13S probably damaging Het
Flrt2 C A 12: 95,746,802 (GRCm39) T380K possibly damaging Het
Gpatch11 T C 17: 79,148,522 (GRCm39) probably benign Het
Hagh A G 17: 25,071,861 (GRCm39) D29G probably damaging Het
Hmmr T C 11: 40,600,831 (GRCm39) Q513R unknown Het
Hoxb8 T C 11: 96,173,981 (GRCm39) S65P probably benign Het
Il4ra T C 7: 125,169,271 (GRCm39) probably benign Het
Lbp A G 2: 158,148,669 (GRCm39) N27S probably damaging Het
Msh4 G A 3: 153,595,822 (GRCm39) T76I possibly damaging Het
Nfat5 T C 8: 108,071,447 (GRCm39) V281A probably benign Het
Or10ag53 C T 2: 87,082,821 (GRCm39) S180F probably benign Het
Or13c25 A T 4: 52,911,392 (GRCm39) V134D probably damaging Het
Or4p20 C T 2: 88,254,052 (GRCm39) probably null Het
Or5b106 T A 19: 13,123,120 (GRCm39) K301M probably damaging Het
Or5w16 T A 2: 87,576,757 (GRCm39) C72* probably null Het
Phf11b A T 14: 59,563,515 (GRCm39) probably benign Het
Pik3c2a A G 7: 115,962,575 (GRCm39) probably benign Het
Prdx1 T A 4: 116,549,064 (GRCm39) F66L probably damaging Het
Prss39 A G 1: 34,538,459 (GRCm39) H108R probably damaging Het
Spta1 C A 1: 174,045,255 (GRCm39) probably benign Het
Tmem87b A G 2: 128,676,127 (GRCm39) I297V possibly damaging Het
Vmn1r191 T C 13: 22,363,068 (GRCm39) R229G probably damaging Het
Vmn2r113 A T 17: 23,174,960 (GRCm39) R524* probably null Het
Washc2 T A 6: 116,197,530 (GRCm39) D254E possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp773 T C 7: 7,135,975 (GRCm39) H207R probably benign Het
Other mutations in Csf3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Csf3r APN 4 125,925,920 (GRCm39) nonsense probably null
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
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
Posted On 2015-04-16