Incidental Mutation 'R2252:Foxa2'
ID 241727
Institutional Source Beutler Lab
Gene Symbol Foxa2
Ensembl Gene ENSMUSG00000037025
Gene Name forkhead box A2
Synonyms Tcf-3b, HNF3beta, HNF3-beta, Tcf3b, Hnf-3b, Hnf3b
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 147884797-147888889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 147886086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 243 (F243S)
Ref Sequence ENSEMBL: ENSMUSP00000045918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047315] [ENSMUST00000109964] [ENSMUST00000172928]
AlphaFold P35583
Predicted Effect probably damaging
Transcript: ENSMUST00000047315
AA Change: F243S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: F243S

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
low complexity region 44 67 N/A INTRINSIC
low complexity region 74 104 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
FH 157 247 4.77e-62 SMART
low complexity region 262 281 N/A INTRINSIC
low complexity region 326 365 N/A INTRINSIC
Pfam:HNF_C 374 448 1.1e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109964
AA Change: F249S

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: F249S

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 50 73 N/A INTRINSIC
low complexity region 80 110 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
FH 163 253 4.77e-62 SMART
low complexity region 268 287 N/A INTRINSIC
low complexity region 332 371 N/A INTRINSIC
Pfam:HNF_C 380 454 5.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146242
Predicted Effect possibly damaging
Transcript: ENSMUST00000172928
AA Change: F68S

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: F68S

DomainStartEndE-ValueType
FH 13 72 1.94e-12 SMART
low complexity region 87 106 N/A INTRINSIC
low complexity region 151 190 N/A INTRINSIC
Pfam:HNF_C 199 273 4.8e-26 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Embryos homozygous for targeted null mutations fail to form a distinct node, lack a notochord, and die by embryonic day 10 or 11. Mutants also exhibit defects of somite and neural tube organization, and lack a floor plate and motor neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Foxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Foxa2 APN 2 147,886,738 (GRCm39) missense possibly damaging 0.93
IGL02560:Foxa2 APN 2 147,885,951 (GRCm39) missense probably benign 0.40
IGL02797:Foxa2 APN 2 147,886,045 (GRCm39) missense possibly damaging 0.95
R6768_Foxa2_027 UTSW 2 147,885,747 (GRCm39) missense probably damaging 0.97
R0116:Foxa2 UTSW 2 147,885,481 (GRCm39) missense probably damaging 0.99
R4334:Foxa2 UTSW 2 147,886,623 (GRCm39) missense possibly damaging 0.85
R5293:Foxa2 UTSW 2 147,885,922 (GRCm39) missense probably benign 0.09
R5339:Foxa2 UTSW 2 147,886,354 (GRCm39) missense probably damaging 1.00
R6768:Foxa2 UTSW 2 147,885,747 (GRCm39) missense probably damaging 0.97
R8036:Foxa2 UTSW 2 147,885,909 (GRCm39) missense probably benign
R8137:Foxa2 UTSW 2 147,885,768 (GRCm39) missense probably benign
R8993:Foxa2 UTSW 2 147,886,626 (GRCm39) missense probably benign 0.28
R9091:Foxa2 UTSW 2 147,886,426 (GRCm39) missense probably benign 0.05
R9270:Foxa2 UTSW 2 147,886,426 (GRCm39) missense probably benign 0.05
R9648:Foxa2 UTSW 2 147,887,799 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAGCTCGCTTAGGCCACC -3'
(R):5'- GTGGATCATGGACCTCTTCC -3'

Sequencing Primer
(F):5'- TTGTGCTCCTGACACGGAGAAG -3'
(R):5'- CCTTTCTACCGGCAGAACCAG -3'
Posted On 2014-10-16