Incidental Mutation 'R1691:Fgd2'
ID 191833
Institutional Source Beutler Lab
Gene Symbol Fgd2
Ensembl Gene ENSMUSG00000024013
Gene Name FYVE, RhoGEF and PH domain containing 2
Synonyms tcs2, Tcd-2, Tcd2, tcs-2
MMRRC Submission 039724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R1691 (G1)
Quality Score 218
Status Not validated
Chromosome 17
Chromosomal Location 29579878-29598509 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 29597918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 618 (Q618*)
Ref Sequence ENSEMBL: ENSMUSP00000024810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]
AlphaFold Q8BY35
Predicted Effect probably null
Transcript: ENSMUST00000024810
AA Change: Q618*
SMART Domains Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: Q618*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RhoGEF 106 289 4.49e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144616
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,148,814 (GRCm39) S283P probably damaging Het
Adck2 T A 6: 39,551,902 (GRCm39) L223* probably null Het
Ank T C 15: 27,591,030 (GRCm39) W390R probably damaging Het
Ano5 T C 7: 51,240,327 (GRCm39) Y752H probably damaging Het
Apcs T A 1: 172,722,160 (GRCm39) D62V probably damaging Het
Atad5 A G 11: 79,986,358 (GRCm39) T482A probably benign Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Ccdc13 A T 9: 121,654,134 (GRCm39) probably null Het
Ccdc157 G A 11: 4,099,030 (GRCm39) P159S probably benign Het
Cdhr3 C T 12: 33,132,246 (GRCm39) V126M probably damaging Het
Cdr1 T C X: 60,227,780 (GRCm39) D462G possibly damaging Het
Cisd1 A G 10: 71,180,559 (GRCm39) V9A probably benign Het
Col19a1 T C 1: 24,576,022 (GRCm39) R107G unknown Het
Col1a2 C A 6: 4,536,038 (GRCm39) H972Q unknown Het
Col3a1 T A 1: 45,387,776 (GRCm39) probably benign Het
Dbnl A G 11: 5,747,174 (GRCm39) S235G probably null Het
Dock4 T A 12: 40,775,754 (GRCm39) S566T probably benign Het
Efcab6 T C 15: 83,817,407 (GRCm39) D722G probably benign Het
Esyt1 T C 10: 128,361,403 (GRCm39) Q97R probably benign Het
Fat2 G A 11: 55,202,678 (GRCm39) T132I probably damaging Het
Flnc T A 6: 29,441,213 (GRCm39) V389E probably benign Het
Garnl3 A T 2: 32,887,675 (GRCm39) Y778* probably null Het
Gpaa1 A T 15: 76,216,416 (GRCm39) Y45F probably damaging Het
Grid1 A T 14: 35,174,286 (GRCm39) I643F probably damaging Het
Gsdmc2 T C 15: 63,705,314 (GRCm39) D133G probably damaging Het
Hp T C 8: 110,302,204 (GRCm39) D248G probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna13 T C 4: 88,562,291 (GRCm39) D111G probably benign Het
Il9r T A 11: 32,141,829 (GRCm39) Q309L possibly damaging Het
Insyn2a C T 7: 134,520,015 (GRCm39) A172T probably damaging Het
Ints1 A T 5: 139,754,687 (GRCm39) D617E probably damaging Het
Kcnj12 A T 11: 60,961,103 (GRCm39) N467I possibly damaging Het
Kmt2e T A 5: 23,669,847 (GRCm39) D111E probably damaging Het
Lama4 A G 10: 38,956,559 (GRCm39) K1161E probably benign Het
Lamc1 C T 1: 153,122,995 (GRCm39) D732N probably benign Het
Larp1 A G 11: 57,938,874 (GRCm39) T517A probably benign Het
Lrp12 A G 15: 39,735,661 (GRCm39) I757T probably damaging Het
Max T C 12: 77,000,046 (GRCm39) D23G possibly damaging Het
Nars1 A T 18: 64,649,485 (GRCm39) probably null Het
Nipsnap3a G A 4: 52,994,185 (GRCm39) D91N probably null Het
Nphp3 A G 9: 103,880,010 (GRCm39) T11A probably benign Het
Nr2c2 C A 6: 92,133,673 (GRCm39) T226K probably damaging Het
Nrxn1 A G 17: 90,469,717 (GRCm39) I1288T probably damaging Het
Nt5c1b C T 12: 10,425,537 (GRCm39) T360I possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or10a3b A G 7: 108,444,348 (GRCm39) Y290H possibly damaging Het
Or13a21 A T 7: 139,998,855 (GRCm39) L277Q probably damaging Het
Or4e1 A T 14: 52,701,288 (GRCm39) H59Q possibly damaging Het
Or4k37 G A 2: 111,159,198 (GRCm39) V145I probably benign Het
Or6d14 A G 6: 116,533,538 (GRCm39) T51A probably benign Het
Or9i1b C T 19: 13,896,783 (GRCm39) T133I probably benign Het
Pcsk1 A G 13: 75,280,344 (GRCm39) D723G possibly damaging Het
Phrf1 C A 7: 140,841,787 (GRCm39) Y715* probably null Het
Pigm T C 1: 172,204,354 (GRCm39) V30A probably benign Het
Pkd1l2 A T 8: 117,783,158 (GRCm39) F721I possibly damaging Het
Pla2g15 A G 8: 106,881,581 (GRCm39) D70G possibly damaging Het
Prl7d1 A T 13: 27,893,365 (GRCm39) I182N probably damaging Het
Prss23 T C 7: 89,159,922 (GRCm39) K49R probably benign Het
Rps6 A T 4: 86,775,046 (GRCm39) D19E probably benign Het
Slco6d1 A T 1: 98,435,292 (GRCm39) H669L probably benign Het
Svil G T 18: 5,056,336 (GRCm39) C490F probably benign Het
Tom1 T C 8: 75,778,227 (GRCm39) I103T probably damaging Het
Trim10 T A 17: 37,187,791 (GRCm39) Y336N probably damaging Het
Trim43c G T 9: 88,722,752 (GRCm39) V133F probably damaging Het
Tvp23a A G 16: 10,246,551 (GRCm39) L78P possibly damaging Het
Ugt2b38 T A 5: 87,571,991 (GRCm39) I14L probably benign Het
Unc5a A C 13: 55,150,737 (GRCm39) M520L probably damaging Het
Vmn1r174 T A 7: 23,453,337 (GRCm39) M1K probably null Het
Vmn2r58 C T 7: 41,486,913 (GRCm39) G661R possibly damaging Het
Vps41 A C 13: 19,025,413 (GRCm39) D471A probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp462 T A 4: 55,013,489 (GRCm39) F1818L possibly damaging Het
Zp3 G A 5: 136,009,135 (GRCm39) E50K possibly damaging Het
Other mutations in Fgd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Fgd2 APN 17 29,586,949 (GRCm39) missense probably damaging 1.00
IGL01505:Fgd2 APN 17 29,585,971 (GRCm39) missense probably damaging 1.00
IGL03240:Fgd2 APN 17 29,580,135 (GRCm39) splice site probably benign
ceci UTSW 17 29,587,350 (GRCm39) splice site probably null
R0046:Fgd2 UTSW 17 29,593,964 (GRCm39) splice site probably benign
R0271:Fgd2 UTSW 17 29,585,982 (GRCm39) missense possibly damaging 0.94
R0594:Fgd2 UTSW 17 29,584,526 (GRCm39) missense probably damaging 1.00
R0612:Fgd2 UTSW 17 29,597,321 (GRCm39) missense probably benign 0.45
R1470:Fgd2 UTSW 17 29,593,082 (GRCm39) splice site probably benign
R1551:Fgd2 UTSW 17 29,597,383 (GRCm39) missense probably damaging 1.00
R1596:Fgd2 UTSW 17 29,595,904 (GRCm39) missense probably benign 0.43
R1664:Fgd2 UTSW 17 29,588,273 (GRCm39) missense probably damaging 1.00
R1689:Fgd2 UTSW 17 29,582,696 (GRCm39) missense probably benign
R1695:Fgd2 UTSW 17 29,587,219 (GRCm39) missense possibly damaging 0.88
R2697:Fgd2 UTSW 17 29,595,895 (GRCm39) missense probably damaging 1.00
R3500:Fgd2 UTSW 17 29,584,575 (GRCm39) missense possibly damaging 0.74
R3689:Fgd2 UTSW 17 29,597,924 (GRCm39) missense probably benign 0.00
R4583:Fgd2 UTSW 17 29,586,052 (GRCm39) missense possibly damaging 0.87
R4871:Fgd2 UTSW 17 29,592,223 (GRCm39) missense possibly damaging 0.89
R5011:Fgd2 UTSW 17 29,593,954 (GRCm39) critical splice donor site probably null
R5209:Fgd2 UTSW 17 29,587,350 (GRCm39) splice site probably null
R7106:Fgd2 UTSW 17 29,595,944 (GRCm39) nonsense probably null
R7139:Fgd2 UTSW 17 29,592,229 (GRCm39) missense probably damaging 1.00
R7712:Fgd2 UTSW 17 29,595,886 (GRCm39) missense probably benign 0.01
R7833:Fgd2 UTSW 17 29,586,369 (GRCm39) missense possibly damaging 0.81
R7834:Fgd2 UTSW 17 29,583,925 (GRCm39) missense probably damaging 1.00
R7913:Fgd2 UTSW 17 29,593,019 (GRCm39) missense probably damaging 1.00
R8547:Fgd2 UTSW 17 29,583,934 (GRCm39) missense probably damaging 0.99
R8686:Fgd2 UTSW 17 29,597,997 (GRCm39) missense probably benign
R9088:Fgd2 UTSW 17 29,583,913 (GRCm39) missense probably damaging 1.00
R9525:Fgd2 UTSW 17 29,583,955 (GRCm39) missense probably damaging 1.00
R9601:Fgd2 UTSW 17 29,593,860 (GRCm39) missense probably benign 0.09
Z1177:Fgd2 UTSW 17 29,597,300 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGTCAGGAGCAGCAGGACTAAATTG -3'
(R):5'- AGACCCTCACTAGGGTGACAACAG -3'

Sequencing Primer
(F):5'- TGGGGGACAGGGACCTTAAC -3'
(R):5'- tccttcttcctctacctaccc -3'
Posted On 2014-05-14