Incidental Mutation 'R6768:Foxa2'
ID 532027
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 044884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6768 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 147884797-147888889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147885747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 181 (H181R)
Ref Sequence ENSEMBL: ENSMUSP00000134081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047315] [ENSMUST00000109964] [ENSMUST00000172928]
AlphaFold P35583
Predicted Effect possibly damaging
Transcript: ENSMUST00000047315
AA Change: H356R

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: H356R

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: H362R

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: H362R

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 damaging
Transcript: ENSMUST00000172928
AA Change: H181R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: H181R

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
Meta Mutation Damage Score 0.0675 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
Validation Efficiency 96% (45/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,453,863 (GRCm39) V227I probably benign Het
Agtrap A G 4: 148,166,067 (GRCm39) V106A probably benign Het
Aldh3a2 A C 11: 61,144,536 (GRCm39) S341A probably benign Het
Bmper T A 9: 23,292,749 (GRCm39) C353S probably damaging Het
Casq1 C T 1: 172,047,245 (GRCm39) D5N probably benign Het
Ccin G A 4: 43,984,574 (GRCm39) R327H probably benign Het
Chuk A G 19: 44,085,390 (GRCm39) V252A probably damaging Het
Colec11 T C 12: 28,645,100 (GRCm39) probably null Het
Cpeb3 G A 19: 37,002,432 (GRCm39) T643I possibly damaging Het
Cstpp1 A T 2: 91,252,303 (GRCm39) H19Q probably damaging Het
Ctcfl A G 2: 172,959,084 (GRCm39) V214A possibly damaging Het
Dst A G 1: 34,220,793 (GRCm39) E2199G probably damaging Het
Eno2 T C 6: 124,744,711 (GRCm39) E45G probably damaging Het
Fpgs A G 2: 32,576,635 (GRCm39) S331P probably benign Het
Gm47189 A G 14: 41,492,035 (GRCm39) S81P probably benign Het
Igsf8 C A 1: 172,145,099 (GRCm39) P142Q probably damaging Het
Islr G T 9: 58,064,893 (GRCm39) Q205K possibly damaging Het
Josd1 A G 15: 79,561,323 (GRCm39) W162R probably benign Het
Lrrc37a G A 11: 103,390,949 (GRCm39) T1492I probably benign Het
Meox1 A G 11: 101,770,161 (GRCm39) F189L probably damaging Het
Mtf1 G A 4: 124,731,578 (GRCm39) D385N probably benign Het
Naip2 A T 13: 100,314,832 (GRCm39) C315* probably null Het
Ncaph2 T A 15: 89,248,202 (GRCm39) Y166* probably null Het
Nr1i3 G A 1: 171,044,966 (GRCm39) V270M probably damaging Het
Or11h4b A G 14: 50,919,049 (GRCm39) L14S probably damaging Het
Or13c7 T C 4: 43,854,351 (GRCm39) I14T probably benign Het
Panx3 T C 9: 37,575,322 (GRCm39) K180R probably benign Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Reln A C 5: 22,183,905 (GRCm39) V1698G probably damaging Het
Rnf213 G T 11: 119,333,062 (GRCm39) R2757L probably damaging Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Sdhb A G 4: 140,706,364 (GRCm39) E267G probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Stk11ip T A 1: 75,509,279 (GRCm39) C766S probably benign Het
Taf6l A C 19: 8,751,913 (GRCm39) S592A probably damaging Het
Tmem145 G A 7: 25,008,061 (GRCm39) G235D probably damaging Het
Tuba3b T A 6: 145,564,455 (GRCm39) probably null Het
Ubl7 A T 9: 57,820,045 (GRCm39) E32D probably benign Het
Vmn1r168 A T 7: 23,240,460 (GRCm39) T106S probably damaging Het
Vmn2r59 C A 7: 41,661,392 (GRCm39) V808F probably benign Het
Vmn2r61 C T 7: 41,949,748 (GRCm39) P723S probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp11 G T 5: 129,735,415 (GRCm39) D15E probably benign Het
Zfp428 G A 7: 24,214,908 (GRCm39) G162R probably damaging Het
Zfp629 G A 7: 127,209,997 (GRCm39) T604I probably benign Het
Zfpm1 C A 8: 123,061,195 (GRCm39) D253E probably damaging Het
Zhx1 G T 15: 57,917,499 (GRCm39) T249K probably benign 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
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'- AGTGCATGACCTGTTCGTAG -3'
(R):5'- TCAAGTGTGAGAAGCAACTGGC -3'

Sequencing Primer
(F):5'- CATGACCTGTTCGTAGGCCTTG -3'
(R):5'- AAGAAGACCGCTCCTGGGTC -3'
Posted On 2018-08-29