Incidental Mutation 'IGL03240:Fgd2'
ID 414267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgd2
Ensembl Gene ENSMUSG00000024013
Gene Name FYVE, RhoGEF and PH domain containing 2
Synonyms Tcd-2, tcs2, Tcd2, tcs-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL03240
Quality Score
Chromosome 17
Chromosomal Location 29360914-29379660 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 29361161 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]
AlphaFold Q8BY35
Predicted Effect probably benign
Transcript: ENSMUST00000024810
SMART Domains Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013

RhoGEF 106 289 4.49e-66 SMART
PH 320 420 2.09e-16 SMART
FYVE 450 519 1.07e-28 SMART
PH 545 643 5.09e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123989
SMART Domains Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013

RhoGEF 106 289 4.49e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146800
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,556,716 (GRCm38) probably benign Het
AA467197 A G 2: 122,639,262 (GRCm38) T57A probably benign Het
Akap11 A T 14: 78,495,905 (GRCm38) D1852E probably damaging Het
Arg2 T A 12: 79,131,831 (GRCm38) probably null Het
Arhgef4 A G 1: 34,806,026 (GRCm38) D1437G probably benign Het
AW551984 C A 9: 39,589,122 (GRCm38) R780L probably benign Het
Baz1a T A 12: 54,927,567 (GRCm38) K503* probably null Het
Cdk2ap1 A T 5: 124,346,144 (GRCm38) H96Q probably damaging Het
Col11a1 T A 3: 114,217,210 (GRCm38) probably null Het
Col12a1 A T 9: 79,678,383 (GRCm38) probably null Het
Col22a1 G A 15: 71,807,928 (GRCm38) P877S unknown Het
Col7a1 A T 9: 108,968,373 (GRCm38) N1681Y probably null Het
Dennd1b T G 1: 139,139,392 (GRCm38) S398A possibly damaging Het
Fam126b A G 1: 58,529,917 (GRCm38) L501P probably damaging Het
Fam129b A C 2: 32,922,097 (GRCm38) Y397S probably benign Het
Hadh T C 3: 131,248,543 (GRCm38) S98G probably benign Het
Has2 C T 15: 56,668,260 (GRCm38) R353H probably damaging Het
Heg1 T C 16: 33,727,413 (GRCm38) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm38) R43* probably null Het
Htr4 A T 18: 62,437,621 (GRCm38) H249L possibly damaging Het
Iqgap3 T C 3: 88,114,974 (GRCm38) S495P probably benign Het
Kars T C 8: 112,005,639 (GRCm38) D99G probably benign Het
Krt40 T A 11: 99,537,568 (GRCm38) S333C probably damaging Het
Lamc2 T C 1: 153,124,125 (GRCm38) I1163V probably damaging Het
Lrrn2 A T 1: 132,938,327 (GRCm38) I377F possibly damaging Het
Mcm5 T A 8: 75,115,902 (GRCm38) I268N probably damaging Het
Mmp21 G T 7: 133,674,571 (GRCm38) H514Q probably damaging Het
Mtcl1 G A 17: 66,338,019 (GRCm38) P1478S probably damaging Het
Mybbp1a A G 11: 72,445,666 (GRCm38) T495A possibly damaging Het
Myo10 T A 15: 25,701,602 (GRCm38) V21E probably damaging Het
Nap1l4 A G 7: 143,538,245 (GRCm38) S49P probably benign Het
Ncoa2 G A 1: 13,177,092 (GRCm38) S369F probably damaging Het
Olfr1009 A T 2: 85,722,331 (GRCm38) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm38) probably benign Het
Ppdpf T C 2: 181,187,880 (GRCm38) S43P probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,492,961 (GRCm38) R643L probably damaging Het
Ptprq T A 10: 107,688,507 (GRCm38) Y455F probably benign Het
Sec23b G A 2: 144,566,759 (GRCm38) probably benign Het
Sh3pxd2a A G 19: 47,268,026 (GRCm38) L751P probably damaging Het
Snx6 T A 12: 54,783,443 (GRCm38) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm38) C3472F possibly damaging Het
Trpd52l3 A T 19: 30,003,996 (GRCm38) E50D probably damaging Het
Ttc33 A G 15: 5,217,328 (GRCm38) D205G probably damaging Het
Tubgcp3 A T 8: 12,649,797 (GRCm38) V352E probably benign Het
Tulp2 T G 7: 45,522,310 (GRCm38) F436C probably damaging Het
Uhrf1bp1 C A 17: 27,893,253 (GRCm38) N1167K probably benign Het
Vmn1r123 T A 7: 21,162,357 (GRCm38) M58K possibly damaging Het
Vmn2r113 T C 17: 22,955,957 (GRCm38) V514A probably benign Het
Vps13c T C 9: 67,955,047 (GRCm38) V2982A probably benign Het
Ywhaq T C 12: 21,395,000 (GRCm38) T215A possibly damaging Het
Zfp677 A T 17: 21,396,873 (GRCm38) H64L probably damaging Het
Other mutations in Fgd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Fgd2 APN 17 29,367,975 (GRCm38) missense probably damaging 1.00
IGL01505:Fgd2 APN 17 29,366,997 (GRCm38) missense probably damaging 1.00
ceci UTSW 17 29,368,376 (GRCm38) splice site probably null
R0046:Fgd2 UTSW 17 29,374,990 (GRCm38) splice site probably benign
R0271:Fgd2 UTSW 17 29,367,008 (GRCm38) missense possibly damaging 0.94
R0594:Fgd2 UTSW 17 29,365,552 (GRCm38) missense probably damaging 1.00
R0612:Fgd2 UTSW 17 29,378,347 (GRCm38) missense probably benign 0.45
R1470:Fgd2 UTSW 17 29,374,108 (GRCm38) splice site probably benign
R1551:Fgd2 UTSW 17 29,378,409 (GRCm38) missense probably damaging 1.00
R1596:Fgd2 UTSW 17 29,376,930 (GRCm38) missense probably benign 0.43
R1664:Fgd2 UTSW 17 29,369,299 (GRCm38) missense probably damaging 1.00
R1689:Fgd2 UTSW 17 29,363,722 (GRCm38) missense probably benign
R1691:Fgd2 UTSW 17 29,378,944 (GRCm38) nonsense probably null
R1695:Fgd2 UTSW 17 29,368,245 (GRCm38) missense possibly damaging 0.88
R2697:Fgd2 UTSW 17 29,376,921 (GRCm38) missense probably damaging 1.00
R3500:Fgd2 UTSW 17 29,365,601 (GRCm38) missense possibly damaging 0.74
R3689:Fgd2 UTSW 17 29,378,950 (GRCm38) missense probably benign 0.00
R4583:Fgd2 UTSW 17 29,367,078 (GRCm38) missense possibly damaging 0.87
R4871:Fgd2 UTSW 17 29,373,249 (GRCm38) missense possibly damaging 0.89
R5011:Fgd2 UTSW 17 29,374,980 (GRCm38) critical splice donor site probably null
R5209:Fgd2 UTSW 17 29,368,376 (GRCm38) splice site probably null
R7106:Fgd2 UTSW 17 29,376,970 (GRCm38) nonsense probably null
R7139:Fgd2 UTSW 17 29,373,255 (GRCm38) missense probably damaging 1.00
R7712:Fgd2 UTSW 17 29,376,912 (GRCm38) missense probably benign 0.01
R7833:Fgd2 UTSW 17 29,367,395 (GRCm38) missense possibly damaging 0.81
R7834:Fgd2 UTSW 17 29,364,951 (GRCm38) missense probably damaging 1.00
R7913:Fgd2 UTSW 17 29,374,045 (GRCm38) missense probably damaging 1.00
R8547:Fgd2 UTSW 17 29,364,960 (GRCm38) missense probably damaging 0.99
R8686:Fgd2 UTSW 17 29,379,023 (GRCm38) missense probably benign
R9088:Fgd2 UTSW 17 29,364,939 (GRCm38) missense probably damaging 1.00
R9525:Fgd2 UTSW 17 29,364,981 (GRCm38) missense probably damaging 1.00
R9601:Fgd2 UTSW 17 29,374,886 (GRCm38) missense probably benign 0.09
Z1177:Fgd2 UTSW 17 29,378,326 (GRCm38) missense probably benign 0.05
Posted On 2016-08-02