Incidental Mutation 'R8686:Fgd2'
ID 662072
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 068541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R8686 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29579878-29598509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29597997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 644 (T644I)
Ref Sequence ENSEMBL: ENSMUSP00000024810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]
AlphaFold Q8BY35
Predicted Effect probably benign
Transcript: ENSMUST00000024810
AA Change: T644I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: T644I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (58/58)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,521 (GRCm39) T596A probably benign Het
Adamts6 A G 13: 104,450,207 (GRCm39) I303V probably damaging Het
Alpl A T 4: 137,471,112 (GRCm39) H341Q probably damaging Het
Cachd1 G A 4: 100,845,325 (GRCm39) R939H probably damaging Het
Cd22 G A 7: 30,569,494 (GRCm39) R541C probably benign Het
Cenpf A T 1: 189,391,801 (GRCm39) M660K probably benign Het
Cmya5 A T 13: 93,231,888 (GRCm39) S1067T possibly damaging Het
Col5a2 C T 1: 45,461,147 (GRCm39) G250D probably damaging Het
Cylc2 C T 4: 51,229,651 (GRCm39) T331M unknown Het
Dgka A G 10: 128,568,962 (GRCm39) M201T probably benign Het
Dnajc13 T C 9: 104,048,004 (GRCm39) I1804V probably benign Het
Dym T A 18: 75,419,754 (GRCm39) Y642N probably damaging Het
Efr3b A T 12: 4,050,886 (GRCm39) D26E probably damaging Het
Emilin1 A T 5: 31,075,040 (GRCm39) K427M possibly damaging Het
Fam187b T C 7: 30,676,659 (GRCm39) L56S probably benign Het
Fbh1 C T 2: 11,760,469 (GRCm39) V694I probably benign Het
G6pc1 T G 11: 101,265,533 (GRCm39) probably null Het
Gli2 A G 1: 118,764,417 (GRCm39) S1245P probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Ighv1-84 T C 12: 115,944,524 (GRCm39) D50G probably benign Het
Impdh1 C A 6: 29,216,214 (GRCm39) probably benign Het
Inhca C T 9: 103,136,627 (GRCm39) A525T probably benign Het
Irf4 A T 13: 30,945,433 (GRCm39) D393V possibly damaging Het
Kalrn A G 16: 34,181,305 (GRCm39) L111P probably damaging Het
Lrch3 T C 16: 32,802,223 (GRCm39) V58A possibly damaging Het
Lrif1 C T 3: 106,640,097 (GRCm39) T394I probably damaging Het
Map4k1 A G 7: 28,693,498 (GRCm39) T434A probably benign Het
Mcur1 G A 13: 43,695,193 (GRCm39) T327M probably damaging Het
Myo9b G T 8: 71,786,966 (GRCm39) S716I probably benign Het
Nol10 T A 12: 17,419,772 (GRCm39) probably benign Het
Nos3 A G 5: 24,573,841 (GRCm39) T202A possibly damaging Het
Odad1 A G 7: 45,597,116 (GRCm39) T456A probably benign Het
Or14j7 T C 17: 38,235,168 (GRCm39) V237A probably benign Het
Or2d4 A C 7: 106,543,905 (GRCm39) M101R probably benign Het
Parp12 A T 6: 39,094,856 (GRCm39) S80T probably benign Het
Pde1a C T 2: 79,758,086 (GRCm39) V50I probably benign Het
Pfkl A T 10: 77,833,356 (GRCm39) probably null Het
Phkg1 A T 5: 129,895,056 (GRCm39) Y207N probably damaging Het
Pik3r4 A G 9: 105,535,728 (GRCm39) T640A possibly damaging Het
Pip5k1c C A 10: 81,147,827 (GRCm39) H411N probably damaging Het
Pla2g4e A G 2: 120,075,172 (GRCm39) S73P probably damaging Het
Polr2b T C 5: 77,483,510 (GRCm39) V662A probably damaging Het
Prss43 C T 9: 110,658,494 (GRCm39) R265C possibly damaging Het
Rap1b A T 10: 117,658,746 (GRCm39) V29D probably damaging Het
Rraga A G 4: 86,495,048 (GRCm39) E298G probably damaging Het
Rrp8 A T 7: 105,382,781 (GRCm39) I418N probably damaging Het
Siglecf T C 7: 43,005,030 (GRCm39) V420A probably benign Het
Snx14 T A 9: 88,297,746 (GRCm39) N174I probably damaging Het
Speer4e1 T C 5: 14,984,129 (GRCm39) N229S probably benign Het
Spopfm2 T C 3: 94,083,427 (GRCm39) D128G probably benign Het
Teddm3 A G 16: 20,971,685 (GRCm39) *295Q probably null Het
Tfap2c A G 2: 172,393,926 (GRCm39) D245G possibly damaging Het
Tfap2d A G 1: 19,178,508 (GRCm39) N191S probably benign Het
Tmt1b A T 10: 128,796,476 (GRCm39) M111K possibly damaging Het
Unc80 A G 1: 66,651,427 (GRCm39) R1591G possibly damaging Het
Vmn1r116 T C 7: 20,606,616 (GRCm39) W146R probably damaging Het
Vps13b C G 15: 35,925,535 (GRCm39) S3823R probably damaging Het
Wiz T A 17: 32,586,821 (GRCm39) D163V probably damaging Het
Xylt1 G C 7: 116,980,594 (GRCm39) A61P unknown Het
Zfp521 A C 18: 13,978,701 (GRCm39) F571V probably damaging Het
Zfp664 T A 5: 124,963,133 (GRCm39) C176S possibly damaging Het
Zfyve26 T C 12: 79,334,227 (GRCm39) N264D probably benign 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
R1691:Fgd2 UTSW 17 29,597,918 (GRCm39) nonsense probably null
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
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'- GGGACCTTAACCCATGGCTTTC -3'
(R):5'- AAGGAAAGGGCCTGTGTCTG -3'

Sequencing Primer
(F):5'- TTCTTCTCCTCCAGGACACAAAGG -3'
(R):5'- GCCTGTGTCTGCTGGATAC -3'
Posted On 2021-03-08