Incidental Mutation 'R7773:Foxf2'
ID 598725
Institutional Source Beutler Lab
Gene Symbol Foxf2
Ensembl Gene ENSMUSG00000038402
Gene Name forkhead box F2
Synonyms FREAC2, LUN, Fkh20
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 31809799-31815386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31811182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 374 (S374P)
Ref Sequence ENSEMBL: ENSMUSP00000046789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042054]
AlphaFold O54743
Predicted Effect probably benign
Transcript: ENSMUST00000042054
AA Change: S374P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: S374P

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
Meta Mutation Damage Score 0.0571 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T probably damaging 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
R3724:Foxf2 UTSW 13 31,814,513 (GRCm39) missense probably damaging 1.00
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
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'- TCCACCTATATGGCCAGCTG -3'
(R):5'- AATCCCCTTCTCTCACTTAGGAATAGG -3'

Sequencing Primer
(F):5'- ACTATGGGCCGGACAGCAG -3'
(R):5'- GGAACCGAATCCCCACCC -3'
Posted On 2019-11-26