Incidental Mutation 'R9648:Foxa2'
ID 726846
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9648 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 147884797-147888889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 147887799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 12 (K12M)
Ref Sequence ENSEMBL: ENSMUSP00000105590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047315] [ENSMUST00000109964] [ENSMUST00000172928]
AlphaFold P35583
Predicted Effect probably benign
Transcript: ENSMUST00000047315
AA Change: K6M

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: K6M

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 probably damaging
Transcript: ENSMUST00000109964
AA Change: K12M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: K12M

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 probably benign
Transcript: ENSMUST00000172928
AA Change: K6M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: K6M

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,609,172 (GRCm39) V798M probably damaging Het
Adprhl1 A G 8: 13,273,245 (GRCm39) L1171P probably benign Het
Atp2b2 C T 6: 113,780,707 (GRCm39) probably null Het
Birc6 A T 17: 74,938,696 (GRCm39) N2701Y probably damaging Het
Bptf A T 11: 106,943,720 (GRCm39) N2720K probably damaging Het
Ccpg1 T C 9: 72,919,312 (GRCm39) L309S probably damaging Het
Cep295 T C 9: 15,234,903 (GRCm39) N2126S probably benign Het
Cln5 A G 14: 103,313,734 (GRCm39) T329A probably benign Het
Cmas T A 6: 142,716,935 (GRCm39) L276M probably benign Het
Cnbd1 A C 4: 19,098,142 (GRCm39) probably null Het
Depdc1b A G 13: 108,460,444 (GRCm39) N18S probably damaging Het
Dido1 C A 2: 180,302,468 (GRCm39) R1812I probably damaging Het
Dnajc2 G A 5: 21,968,478 (GRCm39) T403M probably damaging Het
Dnm1 T A 2: 32,230,455 (GRCm39) I120F probably damaging Het
Egfl6 C T X: 165,319,235 (GRCm39) V379I probably benign Het
Fut7 T A 2: 25,315,336 (GRCm39) V198E probably damaging Het
Gramd1b A T 9: 40,244,793 (GRCm39) V205E probably damaging Het
Gtf2i T A 5: 134,284,770 (GRCm39) N510Y probably damaging Het
H2-M1 T C 17: 36,982,248 (GRCm39) I118V probably benign Het
Icam1 T C 9: 20,937,697 (GRCm39) F245L probably damaging Het
Ifna16 C T 4: 88,595,060 (GRCm39) A12T probably benign Het
Il12rb2 T C 6: 67,333,587 (GRCm39) T231A probably benign Het
Klrb1a T C 6: 128,586,816 (GRCm39) probably null Het
Mc3r T C 2: 172,091,639 (GRCm39) L287P probably damaging Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Msh3 A G 13: 92,478,757 (GRCm39) V404A probably benign Het
Myrf T A 19: 10,188,010 (GRCm39) I896F possibly damaging Het
Nup205 T A 6: 35,202,746 (GRCm39) Y1318N probably benign Het
Or2t47 A T 11: 58,442,313 (GRCm39) Y251N probably damaging Het
Or7g17 T A 9: 18,768,748 (GRCm39) S267T possibly damaging Het
Osbp T A 19: 11,943,590 (GRCm39) W96R probably damaging Het
Pcf11 A G 7: 92,307,318 (GRCm39) L950P probably damaging Het
Pcnt T C 10: 76,190,089 (GRCm39) T2816A probably benign Het
Pde7a A G 3: 19,310,966 (GRCm39) Y87H probably damaging Het
Pip4k2c T C 10: 127,041,569 (GRCm39) H163R probably damaging Het
Pld1 T A 3: 28,174,900 (GRCm39) L846Q probably damaging Het
Plppr2 T A 9: 21,852,379 (GRCm39) S113T probably benign Het
Pms1 A T 1: 53,314,284 (GRCm39) L87Q probably damaging Het
Rasa1 A G 13: 85,436,690 (GRCm39) S113P possibly damaging Het
Rexo1 T A 10: 80,385,540 (GRCm39) H506L probably damaging Het
Rps12 T C 10: 23,662,777 (GRCm39) I6V probably benign Het
Rsph3a T C 17: 8,171,395 (GRCm39) M170T probably benign Het
Rsrc2 A G 5: 123,877,688 (GRCm39) S156P unknown Het
Rtp3 T C 9: 110,815,586 (GRCm39) T260A probably benign Het
Sall2 A G 14: 52,551,224 (GRCm39) F657S probably damaging Het
Serpind1 T A 16: 17,154,318 (GRCm39) N48K probably benign Het
Slc38a11 T A 2: 65,188,484 (GRCm39) D95V probably benign Het
Slc5a4a T C 10: 76,002,608 (GRCm39) C255R probably damaging Het
Slc6a12 C A 6: 121,335,661 (GRCm39) Y330* probably null Het
Slco1b2 T C 6: 141,602,655 (GRCm39) Y203H possibly damaging Het
Spdye4a C T 5: 143,210,848 (GRCm39) R74K probably benign Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Stat1 A T 1: 52,165,695 (GRCm39) D97V probably damaging Het
Stk11ip A G 1: 75,505,585 (GRCm39) E418G probably damaging Het
Tcf20 T C 15: 82,739,876 (GRCm39) D525G probably damaging Het
Tcstv7b C T 13: 120,702,495 (GRCm39) P97L possibly damaging Het
Tlr2 A T 3: 83,745,840 (GRCm39) L81Q probably damaging Het
Tmt1a3 C T 15: 100,232,857 (GRCm39) A16V probably benign Het
Trim50 T A 5: 135,395,475 (GRCm39) I277N probably damaging Het
Ttn T A 2: 76,619,806 (GRCm39) Q15954L probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Wdr43 A G 17: 71,960,494 (GRCm39) K592R probably benign Het
Xirp2 A G 2: 67,346,599 (GRCm39) I2947V probably benign Het
Zan A C 5: 137,405,992 (GRCm39) F3746V unknown Het
Zfp418 G A 7: 7,185,171 (GRCm39) S378N probably benign Het
Zfp518b C G 5: 38,830,240 (GRCm39) Q588H probably damaging Het
Zfp959 G A 17: 56,204,212 (GRCm39) R83K possibly damaging Het
Znrf3 G A 11: 5,231,915 (GRCm39) R437C probably damaging 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
R2252:Foxa2 UTSW 2 147,886,086 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- TCAAGGCTAACAGTGTGTCG -3'
(R):5'- TCACGTCATTGCGGCACTTG -3'

Sequencing Primer
(F):5'- CCCATTTGAGTAGAAGGAGGGC -3'
(R):5'- ACGGTACCATTGCTGACT -3'
Posted On 2022-10-06