Incidental Mutation 'R3885:Foxd2'
ID 308704
Institutional Source Beutler Lab
Gene Symbol Foxd2
Ensembl Gene ENSMUSG00000055210
Gene Name forkhead box D2
Synonyms Mf2
MMRRC Submission 040905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R3885 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 114763479-114766070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114765483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 179 (H179R)
Ref Sequence ENSEMBL: ENSMUSP00000066868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068654]
AlphaFold O35392
Predicted Effect unknown
Transcript: ENSMUST00000068654
AA Change: H179R
SMART Domains Protein: ENSMUSP00000066868
Gene: ENSMUSG00000055210
AA Change: H179R

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
low complexity region 31 37 N/A INTRINSIC
low complexity region 57 73 N/A INTRINSIC
low complexity region 82 126 N/A INTRINSIC
FH 127 217 1.01e-60 SMART
low complexity region 229 259 N/A INTRINSIC
low complexity region 263 304 N/A INTRINSIC
low complexity region 310 351 N/A INTRINSIC
low complexity region 365 384 N/A INTRINSIC
low complexity region 392 404 N/A INTRINSIC
low complexity region 416 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144002
Meta Mutation Damage Score 0.9067 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit renal abnormalities including kidney hypoplasia and hydroureter. Penetrance is reduced, and dependent upon the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak8 G A 2: 28,623,897 (GRCm39) V161I possibly damaging Het
Ank3 A T 10: 69,734,866 (GRCm39) I792F probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Boc T C 16: 44,307,976 (GRCm39) probably benign Het
Bptf G A 11: 106,965,339 (GRCm39) T1170M probably damaging Het
Ccdc85a T A 11: 28,526,677 (GRCm39) E310D probably benign Het
Cfap221 A G 1: 119,881,876 (GRCm39) probably null Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Eif2s1 T A 12: 78,927,999 (GRCm39) I225N probably damaging Het
Ephb2 C T 4: 136,498,345 (GRCm39) G245S probably damaging Het
Exoc4 T C 6: 33,243,066 (GRCm39) probably null Het
Gck T C 11: 5,860,318 (GRCm39) Y108C probably damaging Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gm5145 A T 17: 20,791,272 (GRCm39) T217S probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Gpr150 T C 13: 76,204,657 (GRCm39) Q96R probably damaging Het
H2ac22 A G 13: 21,971,039 (GRCm39) L117P probably damaging Het
H2ac8 G T 13: 23,755,053 (GRCm39) T77K possibly damaging Het
Itga2 A T 13: 115,005,835 (GRCm39) H448Q probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lrch2 C G X: 146,256,003 (GRCm39) A437P probably damaging Het
Lrriq1 T C 10: 103,051,967 (GRCm39) I262V probably damaging Het
Mgst3 G T 1: 167,200,131 (GRCm39) Q135K probably benign Het
Nrxn1 T A 17: 90,930,899 (GRCm39) T766S probably damaging Het
Or11j4 A T 14: 50,630,326 (GRCm39) I38F probably benign Het
Ovch2 A G 7: 107,395,775 (GRCm39) I81T probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,789,091 (GRCm39) N236Y probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Senp7 A G 16: 56,006,442 (GRCm39) E922G probably damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Usp40 A T 1: 87,894,991 (GRCm39) L843Q probably damaging Het
Vmn2r97 C T 17: 19,148,596 (GRCm39) L164F possibly damaging Het
Wiz G T 17: 32,576,012 (GRCm39) A798E possibly damaging Het
Other mutations in Foxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1168:Foxd2 UTSW 4 114,764,875 (GRCm39) missense possibly damaging 0.85
R1183:Foxd2 UTSW 4 114,764,662 (GRCm39) missense possibly damaging 0.68
R1479:Foxd2 UTSW 4 114,765,115 (GRCm39) missense unknown
R3886:Foxd2 UTSW 4 114,765,483 (GRCm39) missense unknown
R3887:Foxd2 UTSW 4 114,765,483 (GRCm39) missense unknown
R3888:Foxd2 UTSW 4 114,765,483 (GRCm39) missense unknown
R3889:Foxd2 UTSW 4 114,765,483 (GRCm39) missense unknown
R4874:Foxd2 UTSW 4 114,764,768 (GRCm39) missense possibly damaging 0.53
R5646:Foxd2 UTSW 4 114,765,832 (GRCm39) missense unknown
R6126:Foxd2 UTSW 4 114,765,702 (GRCm39) missense unknown
R7235:Foxd2 UTSW 4 114,765,468 (GRCm39) missense unknown
R7749:Foxd2 UTSW 4 114,765,009 (GRCm39) missense unknown
R9697:Foxd2 UTSW 4 114,765,684 (GRCm39) missense unknown
R9715:Foxd2 UTSW 4 114,765,195 (GRCm39) missense unknown
R9786:Foxd2 UTSW 4 114,764,850 (GRCm39) missense possibly damaging 0.86
Z1177:Foxd2 UTSW 4 114,765,084 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAAAGCCTTGGCGCAACC -3'
(R):5'- ACGGAGCCCTCTGGTGAAA -3'

Sequencing Primer
(F):5'- ACTGACAGCTGGCAAGGC -3'
(R):5'- GTGAAACCACCTTATTCGTACATCG -3'
Posted On 2015-04-17