Incidental Mutation 'R8462:Klf2'
ID 656609
Institutional Source Beutler Lab
Gene Symbol Klf2
Ensembl Gene ENSMUSG00000055148
Gene Name Kruppel-like transcription factor 2 (lung)
Synonyms Lklf
MMRRC Submission 067906-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8462 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 73072906-73075498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73073373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 59 (N59I)
Ref Sequence ENSEMBL: ENSMUSP00000064823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067912]
AlphaFold Q60843
Predicted Effect probably benign
Transcript: ENSMUST00000067912
AA Change: N59I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064823
Gene: ENSMUSG00000055148
AA Change: N59I

DomainStartEndE-ValueType
low complexity region 57 88 N/A INTRINSIC
low complexity region 159 180 N/A INTRINSIC
low complexity region 183 207 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
ZnF_C2H2 271 295 1.03e-2 SMART
ZnF_C2H2 301 325 4.61e-5 SMART
ZnF_C2H2 331 353 1.69e-3 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kruppel-like factors (KLFs) are a family of broadly expressed zinc finger transcription factors. KLF2 regulates T-cell trafficking by promoting expression of the lipid-binding receptor S1P1 (S1PR1; MIM 601974) and the selectin CD62L (SELL; MIM 153240) (summary by Weinreich et al., 2009 [PubMed 19592277]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Mice homozygous for targeted null mutations die during organogenesis with growth retardation, massive hemorrhage, and signs of anemia. Mice homozygous for one allele also display craniofacial malformations and impaired hematopoiesis. A second allele causes vascular abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,074 (GRCm39) V103A possibly damaging Het
Abcb11 T C 2: 69,104,499 (GRCm39) N729S probably benign Het
Ap2a2 T A 7: 141,210,394 (GRCm39) N883K probably damaging Het
Atr T C 9: 95,749,579 (GRCm39) I464T probably benign Het
Atrn T A 2: 130,777,504 (GRCm39) H184Q probably damaging Het
Bmp5 A G 9: 75,746,874 (GRCm39) D244G probably benign Het
Celsr2 C A 3: 108,320,167 (GRCm39) E882* probably null Het
Cfap58 T A 19: 47,972,089 (GRCm39) V673E possibly damaging Het
Chl1 A G 6: 103,706,130 (GRCm39) N1155S probably benign Het
Colgalt2 C A 1: 152,378,823 (GRCm39) H416Q probably damaging Het
Dab1 C T 4: 104,561,404 (GRCm39) L230F probably benign Het
Dixdc1 G T 9: 50,622,079 (GRCm39) S84* probably null Het
Dnah8 A G 17: 30,875,603 (GRCm39) D475G probably damaging Het
Egr2 T A 10: 67,374,173 (GRCm39) N54K probably null Het
Grm3 T C 5: 9,562,365 (GRCm39) D495G probably benign Het
Kif1b G A 4: 149,266,797 (GRCm39) T1629I probably benign Het
Krt86 T C 15: 101,377,284 (GRCm39) V436A probably benign Het
Lrrk2 T C 15: 91,615,680 (GRCm39) V838A probably benign Het
Ltbp1 T C 17: 75,620,069 (GRCm39) S786P probably damaging Het
Matk C G 10: 81,097,859 (GRCm39) R315G probably damaging Het
Meikin T C 11: 54,290,666 (GRCm39) V249A probably benign Het
Mrnip A G 11: 50,090,654 (GRCm39) R273G probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nsd1 T A 13: 55,446,189 (GRCm39) probably null Het
Pitpnm1 A T 19: 4,155,135 (GRCm39) H321L probably benign Het
Plekhm2 T C 4: 141,367,130 (GRCm39) Y170C probably damaging Het
Ralgapa1 T C 12: 55,723,303 (GRCm39) D2197G possibly damaging Het
Rmdn2 C T 17: 79,978,053 (GRCm39) T338M probably damaging Het
Rps10 A G 17: 27,853,208 (GRCm39) S54P probably damaging Het
S100a11 T C 3: 93,433,422 (GRCm39) S89P probably benign Het
Sh3yl1 T C 12: 30,992,072 (GRCm39) Y176H probably damaging Het
Sppl2c G T 11: 104,077,532 (GRCm39) A111S possibly damaging Het
Stab2 T C 10: 86,803,598 (GRCm39) E317G possibly damaging Het
Stim1 A G 7: 102,076,324 (GRCm39) E425G probably damaging Het
Stxbp1 C T 2: 32,707,293 (GRCm39) probably null Het
Traf6 G A 2: 101,527,801 (GRCm39) R517Q probably damaging Het
Ttn A G 2: 76,804,387 (GRCm39) V295A probably damaging Het
Vps45 A T 3: 95,941,091 (GRCm39) D383E possibly damaging Het
Zfp984 A G 4: 147,839,796 (GRCm39) C352R probably damaging Het
Other mutations in Klf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02658:Klf2 APN 8 73,072,940 (GRCm39) missense probably benign 0.23
escarpment UTSW 8 73,073,373 (GRCm39) missense probably benign 0.00
Palos UTSW 8 73,074,088 (GRCm39) critical splice donor site probably null
R4319:Klf2 UTSW 8 73,074,005 (GRCm39) missense probably benign 0.30
R5538:Klf2 UTSW 8 73,073,316 (GRCm39) missense probably damaging 1.00
R8137:Klf2 UTSW 8 73,074,088 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCAGATCTTGAGGGCCTAGTTG -3'
(R):5'- ATGCATGCACCTGTCGCTC -3'

Sequencing Primer
(F):5'- AGATCTTGAGGGCCTAGTTGTTAGAC -3'
(R):5'- TCGGCCTTCACTAGCCG -3'
Posted On 2021-01-18