Mutagenetix > Incidental Mutation

Incidental Mutation 'R9088:Fgd2'

690786

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R9088 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29360914-29379660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29364939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 109 (E109G)

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: E109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: E109G

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 damaging
Transcript: ENSMUST00000123989
AA Change: E109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: E109G

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: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,406,874	Y1212C		Het
Asah2	T	C	19: 32,052,960	Q104R	probably damaging	Het
Bnipl	T	A	3: 95,250,984	R9*	probably null	Het
Bpifa3	A	C	2: 154,133,765	N85T	possibly damaging	Het
C6	T	C	15: 4,763,474	Y354H	probably damaging	Het
Caln1	A	T	5: 130,414,776		probably benign	Het
Capn3	T	C	2: 120,490,970	F378L	probably benign	Het
Car6	T	C	4: 150,197,349	H125R	probably damaging	Het
Ccdc110	G	A	8: 45,941,845	E258K	probably damaging	Het
Cep295	C	A	9: 15,322,519	R2327L	probably benign	Het
Col14a1	T	A	15: 55,363,527	D224E	unknown	Het
Col16a1	T	A	4: 130,077,223	S938T	unknown	Het
Col4a2	A	G	8: 11,443,227	E1340G	possibly damaging	Het
Col6a6	C	T	9: 105,784,077	V278M	probably damaging	Het
Crybg2	T	A	4: 134,072,579	L41Q	probably damaging	Het
Ctss	A	T	3: 95,529,556	D50V	possibly damaging	Het
Ddx56	C	T	11: 6,259,612	A500T	probably benign	Het
Dmbt1	T	C	7: 131,116,689	V1713A	unknown	Het
Dnah1	T	C	14: 31,266,013	I3483V	probably benign	Het
E130308A19Rik	T	A	4: 59,737,594	F402I	probably benign	Het
Eml6	A	T	11: 29,818,424	H754Q	probably damaging	Het
Ern2	A	G	7: 122,173,667	Y576H	probably damaging	Het
Fat4	T	C	3: 39,007,299	S4344P	probably benign	Het
Fbxo40	A	G	16: 36,969,788	I320T		Het
Fbxw22	C	T	9: 109,378,884	D440N	probably damaging	Het
Gm17359	G	A	3: 79,430,122	G185D	probably damaging	Het
Gm19410	A	T	8: 35,773,612	D214V	probably damaging	Het
Gm884	T	C	11: 103,620,936	K69E	unknown	Het
Hivep2	T	C	10: 14,131,251	Y1198H	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Lrrc8e	G	A	8: 4,234,410	V212M	probably damaging	Het
Map2	A	T	1: 66,414,614	S888C	probably damaging	Het
Met	G	T	6: 17,548,716	G920*	probably null	Het
Mlkl	G	T	8: 111,322,733	R253S		Het
Mmachc	T	A	4: 116,704,632	I102F	probably damaging	Het
Mnt	G	T	11: 74,843,054	V504L	unknown	Het
Mup14	C	T	4: 61,302,497	G96D	probably damaging	Het
Myh13	G	A	11: 67,352,059	E933K	probably damaging	Het
Ncoa6	A	G	2: 155,407,806	S1193P	probably damaging	Het
Nek10	T	C	14: 14,931,314	I762T	probably damaging	Het
Nmur1	G	T	1: 86,387,530	F204L	probably benign	Het
Olfr151	T	A	9: 37,730,510	I158F	probably damaging	Het
Olfr356	A	G	2: 36,937,976	N286D	probably damaging	Het
Olfr672	G	T	7: 104,996,094	P270Q	probably damaging	Het
Pappa2	T	C	1: 158,936,357	Y528C	probably damaging	Het
Patl1	T	C	19: 11,942,925	S748P	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Polr1a	A	G	6: 71,931,783	T531A	probably benign	Het
Slit3	C	T	11: 35,121,636	S41F	possibly damaging	Het
Snap29	A	G	16: 17,428,194	Q226R	probably damaging	Het
Tmpo	A	G	10: 91,153,276		probably null	Het
Tnfrsf21	G	A	17: 43,037,716	G73E	probably damaging	Het
Tsc1	T	A	2: 28,662,605	C119S	possibly damaging	Het
Uox	A	G	3: 146,624,614	Y199C	probably damaging	Het
Vav2	T	C	2: 27,297,696	D231G	possibly damaging	Het
Vmn2r80	A	T	10: 79,169,544	K338N	probably benign	Het
Xylt2	G	A	11: 94,670,403	T178I	probably benign	Het
Zfp931	G	T	2: 178,067,801	T264K	probably damaging	Het
Zgrf1	A	G	3: 127,583,677	D857G	probably benign	Het

Other mutations in Fgd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Fgd2	APN	17	29367975	missense	probably damaging	1.00
IGL01505:Fgd2	APN	17	29366997	missense	probably damaging	1.00
IGL03240:Fgd2	APN	17	29361161	splice site	probably benign
ceci	UTSW	17	29368376	splice site	probably null
R0046:Fgd2	UTSW	17	29374990	splice site	probably benign
R0271:Fgd2	UTSW	17	29367008	missense	possibly damaging	0.94
R0594:Fgd2	UTSW	17	29365552	missense	probably damaging	1.00
R0612:Fgd2	UTSW	17	29378347	missense	probably benign	0.45
R1470:Fgd2	UTSW	17	29374108	splice site	probably benign
R1551:Fgd2	UTSW	17	29378409	missense	probably damaging	1.00
R1596:Fgd2	UTSW	17	29376930	missense	probably benign	0.43
R1664:Fgd2	UTSW	17	29369299	missense	probably damaging	1.00
R1689:Fgd2	UTSW	17	29363722	missense	probably benign
R1691:Fgd2	UTSW	17	29378944	nonsense	probably null
R1695:Fgd2	UTSW	17	29368245	missense	possibly damaging	0.88
R2697:Fgd2	UTSW	17	29376921	missense	probably damaging	1.00
R3500:Fgd2	UTSW	17	29365601	missense	possibly damaging	0.74
R3689:Fgd2	UTSW	17	29378950	missense	probably benign	0.00
R4583:Fgd2	UTSW	17	29367078	missense	possibly damaging	0.87
R4871:Fgd2	UTSW	17	29373249	missense	possibly damaging	0.89
R5011:Fgd2	UTSW	17	29374980	critical splice donor site	probably null
R5209:Fgd2	UTSW	17	29368376	splice site	probably null
R7106:Fgd2	UTSW	17	29376970	nonsense	probably null
R7139:Fgd2	UTSW	17	29373255	missense	probably damaging	1.00
R7712:Fgd2	UTSW	17	29376912	missense	probably benign	0.01
R7833:Fgd2	UTSW	17	29367395	missense	possibly damaging	0.81
R7834:Fgd2	UTSW	17	29364951	missense	probably damaging	1.00
R7913:Fgd2	UTSW	17	29374045	missense	probably damaging	1.00
R8547:Fgd2	UTSW	17	29364960	missense	probably damaging	0.99
R8686:Fgd2	UTSW	17	29379023	missense	probably benign
R9525:Fgd2	UTSW	17	29364981	missense	probably damaging	1.00
R9601:Fgd2	UTSW	17	29374886	missense	probably benign	0.09
Z1177:Fgd2	UTSW	17	29378326	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTAACCTGAAGACTCAGCCCTG -3'
(R):5'- CATGAGGTGCTAAAGGGCTCAG -3'

Sequencing Primer
(F):5'- CCTTTCTAGGCTGTACTATGAAAGC -3'
(R):5'- CTAAAGGGCTCAGTTCTGATGC -3'

Posted On

2021-12-30