Incidental Mutation 'R3724:Foxf2'
ID 270693
Institutional Source Beutler Lab
Gene Symbol Foxf2
Ensembl Gene ENSMUSG00000038402
Gene Name forkhead box F2
Synonyms FREAC2, LUN, Fkh20
MMRRC Submission 040715-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3724 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 31809799-31815386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31814513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 409 (K409R)
Ref Sequence ENSEMBL: ENSMUSP00000046789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042054]
AlphaFold O54743
Predicted Effect probably damaging
Transcript: ENSMUST00000042054
AA Change: K409R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: K409R

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
low complexity region 45 94 N/A INTRINSIC
FH 98 188 6.02e-59 SMART
low complexity region 189 198 N/A INTRINSIC
low complexity region 236 245 N/A INTRINSIC
low complexity region 256 275 N/A INTRINSIC
low complexity region 289 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221582
Meta Mutation Damage Score 0.2218 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities. Mice homozygous for an ENU mutation exhibit postnatal lethality without palate defect and abnormal anterior segment dysgenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,876,099 (GRCm39) R133L probably damaging Het
Abhd8 G A 8: 71,914,136 (GRCm39) A164V probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Atl1 A G 12: 70,006,154 (GRCm39) T487A probably damaging Het
C2cd6 C T 1: 59,105,394 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Ccna1 T C 3: 54,958,353 (GRCm39) E110G probably damaging Het
Ccne2 T C 4: 11,203,039 (GRCm39) C386R probably benign Het
Cfap53 A G 18: 74,492,640 (GRCm39) I455V probably benign Het
Ctdp1 C T 18: 80,502,482 (GRCm39) V143I probably benign Het
Cyp11a1 A T 9: 57,926,605 (GRCm39) M47L probably benign Het
Dnah5 T C 15: 28,270,566 (GRCm39) L956P probably benign Het
Enkd1 A T 8: 106,430,557 (GRCm39) V326E possibly damaging Het
Epha4 A G 1: 77,403,180 (GRCm39) probably benign Het
Etv5 T C 16: 22,254,662 (GRCm39) D66G probably damaging Het
Evi5l A G 8: 4,228,080 (GRCm39) probably benign Het
Frem3 A G 8: 81,341,900 (GRCm39) T1398A probably benign Het
Galm A G 17: 80,490,709 (GRCm39) T289A probably benign Het
Gtdc1 T C 2: 44,646,319 (GRCm39) E44G probably damaging Het
Hmcn1 T A 1: 150,565,269 (GRCm39) Y2286F possibly damaging Het
Iars1 A G 13: 49,840,860 (GRCm39) probably null Het
Ifna5 A G 4: 88,754,171 (GRCm39) E137G probably damaging Het
Itih4 G A 14: 30,614,541 (GRCm39) E468K possibly damaging Het
Kat6a A T 8: 23,352,804 (GRCm39) H196L probably damaging Het
Kctd16 A G 18: 40,391,912 (GRCm39) T167A possibly damaging Het
Klhl29 C T 12: 5,140,603 (GRCm39) V680I probably damaging Het
Marchf7 T C 2: 60,060,089 (GRCm39) I72T probably benign Het
Mbd6 C T 10: 127,119,760 (GRCm39) probably benign Het
Mefv A G 16: 3,526,058 (GRCm39) probably null Het
Mindy3 T A 2: 12,360,165 (GRCm39) M6L probably damaging Het
Mrpl9 T A 3: 94,355,073 (GRCm39) probably null Het
Nlrp4e A T 7: 23,020,802 (GRCm39) T430S probably benign Het
Or4ac1-ps1 T G 2: 88,370,630 (GRCm39) noncoding transcript Het
Pcdh15 A T 10: 74,481,680 (GRCm39) T342S probably benign Het
Prkce A T 17: 86,476,051 (GRCm39) K11* probably null Het
Pros1 T C 16: 62,720,692 (GRCm39) I117T possibly damaging Het
Prpf38b T C 3: 108,811,656 (GRCm39) probably benign Het
Sh3rf1 T C 8: 61,825,756 (GRCm39) S584P probably benign Het
Slit2 T C 5: 48,414,225 (GRCm39) probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Stambp C T 6: 83,534,448 (GRCm39) E280K probably damaging Het
Tenm3 A G 8: 48,730,781 (GRCm39) I1329T probably damaging Het
Tex2 G A 11: 106,420,156 (GRCm39) T869I unknown Het
Tlk2 A G 11: 105,138,390 (GRCm39) T281A probably benign Het
Tpm1 G A 9: 66,939,227 (GRCm39) probably benign Het
Trim3 A G 7: 105,260,396 (GRCm39) F702L probably damaging Het
Uba6 T C 5: 86,282,906 (GRCm39) D559G probably damaging Het
Vmn2r20 T A 6: 123,362,706 (GRCm39) T693S probably benign Het
Zfand2b A G 1: 75,146,499 (GRCm39) K125E possibly damaging Het
Zfp422 C T 6: 116,603,340 (GRCm39) A220T probably benign Het
Zfp747 A T 7: 126,973,762 (GRCm39) V136D probably benign Het
Other mutations in Foxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Foxf2 APN 13 31,810,172 (GRCm39) missense unknown
IGL01939:Foxf2 APN 13 31,810,697 (GRCm39) missense probably damaging 0.97
IGL02012:Foxf2 APN 13 31,810,499 (GRCm39) missense probably damaging 0.98
IGL02647:Foxf2 APN 13 31,811,218 (GRCm39) missense probably damaging 0.99
IGL03275:Foxf2 APN 13 31,810,514 (GRCm39) missense probably damaging 0.99
R0517:Foxf2 UTSW 13 31,810,226 (GRCm39) missense unknown
R0812:Foxf2 UTSW 13 31,811,188 (GRCm39) missense probably damaging 0.97
R2005:Foxf2 UTSW 13 31,810,124 (GRCm39) missense unknown
R2090:Foxf2 UTSW 13 31,810,824 (GRCm39) missense probably benign 0.23
R4627:Foxf2 UTSW 13 31,810,871 (GRCm39) missense probably benign 0.40
R4757:Foxf2 UTSW 13 31,810,172 (GRCm39) missense unknown
R5049:Foxf2 UTSW 13 31,811,158 (GRCm39) missense probably benign
R5303:Foxf2 UTSW 13 31,810,463 (GRCm39) missense possibly damaging 0.88
R5874:Foxf2 UTSW 13 31,810,775 (GRCm39) missense probably benign 0.05
R6983:Foxf2 UTSW 13 31,811,180 (GRCm39) missense probably benign 0.35
R7309:Foxf2 UTSW 13 31,810,496 (GRCm39) missense probably damaging 0.98
R7635:Foxf2 UTSW 13 31,810,087 (GRCm39) missense unknown
R7773:Foxf2 UTSW 13 31,811,182 (GRCm39) missense probably benign 0.00
R8266:Foxf2 UTSW 13 31,810,361 (GRCm39) small insertion probably benign
R9033:Foxf2 UTSW 13 31,810,085 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTATAGCCATACACCCTAAGGCC -3'
(R):5'- TGTGAGTCCGTTGCAGTTCC -3'

Sequencing Primer
(F):5'- TAAGGCCACCAGCTGCCTTTAC -3'
(R):5'- CCGTTGCAGTTCCTGGCTG -3'
Posted On 2015-03-18