Mutagenetix > Incidental Mutation

Incidental Mutation 'R7913:Fgd2'

610695

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

045961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R7913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29579878-29598509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29593019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 423 (R423L)

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: R423L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: R423L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
RhoGEF	106	289	4.49e-66	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	A	G	10: 90,896,133 (GRCm39)	V324A	probably damaging	Het
Aqp8	T	A	7: 123,063,495 (GRCm39)	I115N	possibly damaging	Het
Atrn	G	A	2: 130,812,131 (GRCm39)	C692Y	probably damaging	Het
Card10	A	T	15: 78,665,303 (GRCm39)	S717T	possibly damaging	Het
Cep78	T	C	19: 15,947,941 (GRCm39)	S408G	probably benign	Het
Col24a1	G	T	3: 145,137,621 (GRCm39)	G895*	probably null	Het
Cs	A	T	10: 128,186,310 (GRCm39)	K34N	possibly damaging	Het
Dchs1	T	C	7: 105,408,435 (GRCm39)	E1799G	possibly damaging	Het
Dlg5	A	T	14: 24,187,192 (GRCm39)		probably null	Het
Dpy19l4	A	T	4: 11,265,859 (GRCm39)	Y696*	probably null	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Fmo4	T	C	1: 162,621,741 (GRCm39)	D490G	possibly damaging	Het
Gm5113	A	T	7: 29,877,648 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,291,654 (GRCm39)	W854R	probably damaging	Het
H2-M1	T	C	17: 36,981,129 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,309,842 (GRCm39)	M694K	probably benign	Het
Hsd17b6	T	C	10: 127,833,645 (GRCm39)	T79A	possibly damaging	Het
Hspa4	A	C	11: 53,153,134 (GRCm39)	V761G	probably benign	Het
Ifi203	T	C	1: 173,754,523 (GRCm39)	Y736C	probably damaging	Het
Mettl9	T	A	7: 120,675,524 (GRCm39)	L308Q	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Ncapd3	T	A	9: 26,959,522 (GRCm39)	C319*	probably null	Het
Ncs1	C	A	2: 31,177,296 (GRCm39)		probably null	Het
Nell1	T	A	7: 49,929,270 (GRCm39)	H392Q	possibly damaging	Het
Nlrp1b	C	A	11: 71,108,537 (GRCm39)	E321D	possibly damaging	Het
Nlrp9b	A	T	7: 19,779,725 (GRCm39)	H796L	probably benign	Het
Nudt16l1	C	A	16: 4,757,245 (GRCm39)	Q53K	possibly damaging	Het
Nyap1	A	G	5: 137,733,231 (GRCm39)	S601P	probably damaging	Het
Odf2l	C	T	3: 144,859,244 (GRCm39)	Q634*	probably null	Het
Or10al2	A	T	17: 37,982,999 (GRCm39)	E28D	probably benign	Het
Or12e14	A	G	2: 87,677,037 (GRCm39)	I141V	probably benign	Het
Or1e22	A	G	11: 73,377,224 (GRCm39)	V142A	probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or5b120	T	A	19: 13,480,571 (GRCm39)	V288E	probably damaging	Het
Or5m10	T	A	2: 85,718,074 (GRCm39)	L310H	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pik3c2b	T	C	1: 133,017,799 (GRCm39)		probably null	Het
Pramel21	T	A	4: 143,341,615 (GRCm39)	Y15N	possibly damaging	Het
Prl3c1	A	G	13: 27,383,393 (GRCm39)	I40V	probably benign	Het
R3hdm4	C	T	10: 79,747,779 (GRCm39)	A229T	probably damaging	Het
Rab3gap2	T	C	1: 184,995,013 (GRCm39)	S851P	possibly damaging	Het
Ralgapb	A	T	2: 158,307,859 (GRCm39)	I1056F	probably damaging	Het
Sec16b	T	C	1: 157,356,899 (GRCm39)	Y36H	probably benign	Het
Setd3	A	T	12: 108,073,924 (GRCm39)	V451D	probably benign	Het
Slc35e1	T	C	8: 73,238,506 (GRCm39)	K334R	probably damaging	Het
Synj1	A	T	16: 90,788,315 (GRCm39)	N184K	possibly damaging	Het
Syt1	T	C	10: 108,478,109 (GRCm39)	D105G	probably benign	Het
Taar7e	T	A	10: 23,913,902 (GRCm39)	C131S	possibly damaging	Het
Tead4	A	G	6: 128,220,331 (GRCm39)		probably null	Het
Tescl	C	A	7: 24,033,076 (GRCm39)	R83L	probably damaging	Het
Ufd1	G	T	16: 18,633,616 (GRCm39)	V14F	probably benign	Het
Ugt1a10	T	A	1: 87,983,477 (GRCm39)	Y92N	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r67	G	A	7: 84,801,036 (GRCm39)	T300I	possibly damaging	Het
Wt1	T	G	2: 104,997,205 (GRCm39)	S381A	probably damaging	Het
Zbtb44	C	T	9: 30,965,504 (GRCm39)	Q305*	probably null	Het

Other mutations in Fgd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGGACTTGGTTTGGCATGTATAAC -3'
(R):5'- AGACACATACCGCTAACTAGGG -3'

Sequencing Primer
(F):5'- CATGTATAACCTGGAGCTGATAGC -3'
(R):5'- TACCGCTAACTAGGGAACTCTGG -3'

Posted On

2019-12-20