Incidental Mutation 'R4874:Foxd2'
ID 376768
Institutional Source Beutler Lab
Gene Symbol Foxd2
Ensembl Gene ENSMUSG00000055210
Gene Name forkhead box D2
Synonyms Mf2
MMRRC Submission 042484-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R4874 (G1)
Quality Score 173
Status Validated
Chromosome 4
Chromosomal Location 114763479-114766070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114764768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 417 (H417Q)
Ref Sequence ENSEMBL: ENSMUSP00000066868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068654]
AlphaFold O35392
Predicted Effect possibly damaging
Transcript: ENSMUST00000068654
AA Change: H417Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066868
Gene: ENSMUSG00000055210
AA Change: H417Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155499
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (51/54)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat G A 8: 60,969,147 (GRCm39) probably null Het
Adamtsl1 A G 4: 86,260,729 (GRCm39) N988S possibly damaging Het
Aph1b A T 9: 66,697,878 (GRCm39) probably null Het
B4galnt3 C A 6: 120,184,167 (GRCm39) R880L probably damaging Het
Bcam T C 7: 19,503,247 (GRCm39) probably benign Het
Cr2 A T 1: 194,858,878 (GRCm39) I14N possibly damaging Het
Dcdc5 T C 2: 106,198,451 (GRCm39) noncoding transcript Het
Dll1 A T 17: 15,590,501 (GRCm39) M405K probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ern2 T C 7: 121,775,810 (GRCm39) D428G probably benign Het
Esp36 A T 17: 38,727,987 (GRCm39) M98K unknown Het
Glrb T C 3: 80,758,349 (GRCm39) N304D possibly damaging Het
Haus3 A G 5: 34,324,972 (GRCm39) V229A probably benign Het
Hpgd A T 8: 56,770,838 (GRCm39) I159F possibly damaging Het
Ighv1-22 T A 12: 114,710,036 (GRCm39) I70F probably benign Het
Il16 A T 7: 83,310,153 (GRCm39) F584L possibly damaging Het
Lamc2 T C 1: 153,030,141 (GRCm39) D167G probably null Het
Megf10 G A 18: 57,426,930 (GRCm39) V1083I probably benign Het
Mertk T C 2: 128,592,079 (GRCm39) S268P probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mki67 T C 7: 135,310,500 (GRCm39) D132G probably damaging Het
Nbas A G 12: 13,371,756 (GRCm39) N419D probably damaging Het
Negr1 T C 3: 156,565,082 (GRCm39) L56S probably damaging Het
Nup214 A G 2: 31,870,596 (GRCm39) probably null Het
Opn5 C G 17: 42,891,610 (GRCm39) A276P probably damaging Het
Or10j5 A G 1: 172,785,166 (GRCm39) E268G probably benign Het
Or2d3 C T 7: 106,490,642 (GRCm39) V225I probably benign Het
Or5t9 T A 2: 86,659,598 (GRCm39) H167Q probably damaging Het
Papln G T 12: 83,823,917 (GRCm39) V499L probably benign Het
Pgap1 A T 1: 54,569,296 (GRCm39) W357R probably damaging Het
Pibf1 T C 14: 99,377,992 (GRCm39) Y373H probably damaging Het
Pitpnm1 T C 19: 4,162,252 (GRCm39) probably null Het
Prcd T A 11: 116,550,597 (GRCm39) W3R probably null Het
Prkaa1 A G 15: 5,203,838 (GRCm39) N249S probably benign Het
Reg3b T A 6: 78,349,809 (GRCm39) N116K possibly damaging Het
Rpusd2 T C 2: 118,865,360 (GRCm39) L19P probably benign Het
Rufy1 T C 11: 50,297,277 (GRCm39) T392A possibly damaging Het
Sall3 T C 18: 81,017,188 (GRCm39) K247E probably benign Het
Shank1 C T 7: 43,965,497 (GRCm39) T191M unknown Het
Slit1 C T 19: 41,717,493 (GRCm39) probably null Het
Sorl1 A T 9: 41,975,048 (GRCm39) V520E probably damaging Het
Vmn2r115 T A 17: 23,578,825 (GRCm39) F766Y probably damaging Het
Wdr87-ps A G 7: 29,235,608 (GRCm39) noncoding transcript Het
Zfp644 A G 5: 106,783,279 (GRCm39) S1032P probably 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
R3885:Foxd2 UTSW 4 114,765,483 (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
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'- TCCCCAGAGAGGTTAAGGAGTG -3'
(R):5'- TTGCGCCAAGGCTTTCTAC -3'

Sequencing Primer
(F):5'- CGACTTTGCTGGCAAACGAG -3'
(R):5'- AAGGCTTTCTACCCCGCG -3'
Posted On 2016-03-17