Incidental Mutation 'R2697:Fgd2'
ID 251242
Institutional Source Beutler Lab
Gene Symbol Fgd2
Ensembl Gene ENSMUSG00000024013
Gene Name FYVE, RhoGEF and PH domain containing 2
Synonyms Tcd-2, tcs2, Tcd2, tcs-2
MMRRC Submission 040435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R2697 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 29360914-29379660 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29376921 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 518 (T518S)
Ref Sequence ENSEMBL: ENSMUSP00000024810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]
AlphaFold Q8BY35
Predicted Effect probably damaging
Transcript: ENSMUST00000024810
AA Change: T518S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: T518S

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: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,626,656 (GRCm38) S46G unknown Het
Acaca T A 11: 84,364,413 (GRCm38) D1932E probably damaging Het
Adam7 A T 14: 68,514,783 (GRCm38) C417* probably null Het
Adgrl4 A C 3: 151,510,623 (GRCm38) Q481P probably damaging Het
Adra2c C A 5: 35,280,698 (GRCm38) N271K probably benign Het
Ahctf1 T C 1: 179,752,532 (GRCm38) K2035R probably damaging Het
Ano3 T C 2: 110,794,960 (GRCm38) T182A possibly damaging Het
Armc3 T C 2: 19,303,935 (GRCm38) Y805H probably damaging Het
BC024139 TCCACCACCACCACCACCAC TCCACCACCACCACCAC 15: 76,120,193 (GRCm38) probably benign Het
Cabp7 C T 11: 4,738,837 (GRCm38) R211H probably damaging Het
Ccdc117 T C 11: 5,534,888 (GRCm38) N112S possibly damaging Het
Cep120 C T 18: 53,740,125 (GRCm38) D45N probably benign Het
Cpsf1 T C 15: 76,599,329 (GRCm38) Y872C probably damaging Het
Cradd A G 10: 95,175,945 (GRCm38) L111P probably damaging Het
Crhr2 A G 6: 55,102,830 (GRCm38) L155P probably damaging Het
Fam46a T C 9: 85,324,740 (GRCm38) D335G possibly damaging Het
Gm340 T A 19: 41,584,027 (GRCm38) V407E probably benign Het
Gpam C T 19: 55,083,209 (GRCm38) E367K probably damaging Het
Gtf3c1 T A 7: 125,643,954 (GRCm38) N1826I probably damaging Het
Kcnq5 T C 1: 21,479,432 (GRCm38) E357G probably damaging Het
Krt1 T A 15: 101,846,929 (GRCm38) D465V probably damaging Het
Macrod1 T C 19: 7,196,792 (GRCm38) V221A probably damaging Het
Mbd1 T C 18: 74,273,617 (GRCm38) S144P possibly damaging Het
Mtfmt T C 9: 65,452,021 (GRCm38) V326A probably benign Het
Myo1b T C 1: 51,863,358 (GRCm38) D71G probably benign Het
Myo1h A G 5: 114,355,213 (GRCm38) Y705C probably damaging Het
Nudt9 T C 5: 104,064,993 (GRCm38) W311R probably damaging Het
Olfr132 A G 17: 38,131,009 (GRCm38) F61S probably damaging Het
Olfr47 A T 6: 43,236,126 (GRCm38) I173F probably damaging Het
Olfr743 C T 14: 50,533,781 (GRCm38) A123V probably damaging Het
Olfr808 G A 10: 129,767,924 (GRCm38) V143I probably benign Het
Osbp2 A T 11: 3,863,407 (GRCm38) L154Q probably benign Het
P3h1 A G 4: 119,247,180 (GRCm38) T633A probably damaging Het
Polq T G 16: 37,042,153 (GRCm38) L616R probably damaging Het
Pon3 A G 6: 5,232,429 (GRCm38) L197S possibly damaging Het
Rap1gds1 C T 3: 138,983,721 (GRCm38) probably null Het
Rbp3 C T 14: 33,956,018 (GRCm38) T641M probably damaging Het
Rfng C A 11: 120,784,039 (GRCm38) probably benign Het
Rps6ka2 T G 17: 7,300,322 (GRCm38) L728R probably benign Het
Slc41a3 C A 6: 90,642,320 (GRCm38) N360K possibly damaging Het
Sult1e1 T C 5: 87,578,538 (GRCm38) N239S probably damaging Het
Tacr1 T A 6: 82,492,597 (GRCm38) I154N probably damaging Het
Tacstd2 T A 6: 67,535,219 (GRCm38) H163L probably benign Het
Tiam1 T C 16: 89,793,164 (GRCm38) S1382G probably benign Het
Tmem43 A G 6: 91,479,929 (GRCm38) E164G possibly damaging Het
U2af2 G A 7: 5,067,546 (GRCm38) R78H probably benign Het
Yipf7 T A 5: 69,541,140 (GRCm38) D8V possibly damaging Het
Zfp58 G A 13: 67,491,005 (GRCm38) H456Y probably damaging Het
Zfp799 G A 17: 32,820,240 (GRCm38) R351* probably null Het
Zfyve9 T C 4: 108,695,819 (GRCm38) D715G 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
IGL03240:Fgd2 APN 17 29,361,161 (GRCm38) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CCCCATGTAAGAGGCTCATG -3'
(R):5'- TAGCCTGCAGTCCATAGCTC -3'

Sequencing Primer
(F):5'- TAGGTGGGGCCATGCAG -3'
(R):5'- CAGGTGGATTTCTAAATTCCAGGCC -3'
Posted On 2014-12-04