Incidental Mutation 'R5948:Csf2'
ID 472286
Institutional Source Beutler Lab
Gene Symbol Csf2
Ensembl Gene ENSMUSG00000018916
Gene Name colony stimulating factor 2 (granulocyte-macrophage)
Synonyms Gm-CSf, Csfgm, MGI-IGM, GMCSF
MMRRC Submission 043244-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R5948 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 54138097-54140493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54138514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 109 (D109G)
Ref Sequence ENSEMBL: ENSMUSP00000019060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019060]
AlphaFold P01587
Predicted Effect probably benign
Transcript: ENSMUST00000019060
AA Change: D109G

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000019060
Gene: ENSMUSG00000018916
AA Change: D109G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CSF2 18 135 2.1e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135468
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
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 a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lung abnormalities with lymphocytic infiltration and accumulation of surfactant lipids. Litter sizes from homozygous breeding pairs are smaller at weaning due to perinatal mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 T C 3: 37,137,504 (GRCm39) probably null Het
Adam8 G T 7: 139,567,797 (GRCm39) D341E probably benign Het
Ankrd6 T C 4: 32,817,075 (GRCm39) T351A possibly damaging Het
Ccdc150 T C 1: 54,316,873 (GRCm39) S251P possibly damaging Het
Cfh T C 1: 140,036,546 (GRCm39) N629S probably damaging Het
Col4a2 T C 8: 11,470,600 (GRCm39) S453P probably benign Het
Dapk1 C A 13: 60,877,209 (GRCm39) H483N probably damaging Het
Dnah7c T G 1: 46,711,657 (GRCm39) I2628R probably benign Het
Dsp T C 13: 38,379,377 (GRCm39) Y2041H possibly damaging Het
Dusp10 A G 1: 183,801,073 (GRCm39) N280S probably benign Het
Efhc1 T A 1: 21,043,052 (GRCm39) Y324N probably damaging Het
Epsti1 T C 14: 78,177,330 (GRCm39) L170P probably damaging Het
Fbn2 C T 18: 58,170,121 (GRCm39) G2217R probably damaging Het
Fryl A G 5: 73,254,715 (GRCm39) probably null Het
Mrpl39 T C 16: 84,522,041 (GRCm39) N244D probably benign Het
Nptxr C T 15: 79,674,042 (GRCm39) A445T probably benign Het
Or1j15 A G 2: 36,459,363 (GRCm39) Y251C probably damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Parvb G A 15: 84,187,662 (GRCm39) V257M probably damaging Het
Piezo1 T C 8: 123,210,086 (GRCm39) E2258G probably benign Het
Prpf8 A G 11: 75,400,015 (GRCm39) E2303G possibly damaging Het
Psmc6 A G 14: 45,572,114 (GRCm39) D88G probably benign Het
Rbbp6 C T 7: 122,596,851 (GRCm39) T701I probably damaging Het
Rtl1 T A 12: 109,557,033 (GRCm39) D1602V possibly damaging Het
Rubcnl T C 14: 75,285,056 (GRCm39) L525P probably damaging Het
Sbf2 T C 7: 110,088,492 (GRCm39) D73G probably damaging Het
Sh3tc2 T A 18: 62,146,176 (GRCm39) M1185K probably damaging Het
Shank2 A G 7: 143,960,960 (GRCm39) K469E probably damaging Het
Ttc41 T C 10: 86,549,088 (GRCm39) L94P probably damaging Het
Ttf1 G A 2: 28,963,932 (GRCm39) A603T possibly damaging Het
Usp9y A T Y: 1,324,996 (GRCm39) H1686Q possibly damaging Het
Vps37a A G 8: 40,993,752 (GRCm39) E249G possibly damaging Het
Zfp273 A G 13: 67,973,918 (GRCm39) I316V probably benign Het
Zfp600 T A 4: 146,131,645 (GRCm39) N104K probably damaging Het
Other mutations in Csf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Csf2 APN 11 54,140,351 (GRCm39) missense probably damaging 1.00
IGL03155:Csf2 APN 11 54,138,497 (GRCm39) missense possibly damaging 0.95
R1482:Csf2 UTSW 11 54,139,389 (GRCm39) missense probably benign 0.12
R1964:Csf2 UTSW 11 54,139,284 (GRCm39) missense probably benign 0.39
R4049:Csf2 UTSW 11 54,140,159 (GRCm39) missense probably damaging 0.96
R4799:Csf2 UTSW 11 54,140,306 (GRCm39) missense probably benign 0.06
R5402:Csf2 UTSW 11 54,138,489 (GRCm39) nonsense probably null
R9751:Csf2 UTSW 11 54,140,420 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGGCAGAAATTCCAAGTTCCTGG -3'
(R):5'- TTCTGTAAGGGCACAGTCCC -3'

Sequencing Primer
(F):5'- AAGTTCCTGGCTCATTACGCAG -3'
(R):5'- GCAGAGCTGTGCATGCCTTAG -3'
Posted On 2017-03-31