Mutagenetix > Incidental Mutation

Incidental Mutation 'R2697:Fgd2'

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

Is this an essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R2697 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,626,656	S46G	unknown	Het
Acaca	T	A	11: 84,364,413	D1932E	probably damaging	Het
Adam7	A	T	14: 68,514,783	C417*	probably null	Het
Adgrl4	A	C	3: 151,510,623	Q481P	probably damaging	Het
Adra2c	C	A	5: 35,280,698	N271K	probably benign	Het
Ahctf1	T	C	1: 179,752,532	K2035R	probably damaging	Het
Ano3	T	C	2: 110,794,960	T182A	possibly damaging	Het
Armc3	T	C	2: 19,303,935	Y805H	probably damaging	Het
BC024139	TCCACCACCACCACCACCAC	TCCACCACCACCACCAC	15: 76,120,193		probably benign	Het
Cabp7	C	T	11: 4,738,837	R211H	probably damaging	Het
Ccdc117	T	C	11: 5,534,888	N112S	possibly damaging	Het
Cep120	C	T	18: 53,740,125	D45N	probably benign	Het
Cpsf1	T	C	15: 76,599,329	Y872C	probably damaging	Het
Cradd	A	G	10: 95,175,945	L111P	probably damaging	Het
Crhr2	A	G	6: 55,102,830	L155P	probably damaging	Het
Fam46a	T	C	9: 85,324,740	D335G	possibly damaging	Het
Gm340	T	A	19: 41,584,027	V407E	probably benign	Het
Gpam	C	T	19: 55,083,209	E367K	probably damaging	Het
Gtf3c1	T	A	7: 125,643,954	N1826I	probably damaging	Het
Kcnq5	T	C	1: 21,479,432	E357G	probably damaging	Het
Krt1	T	A	15: 101,846,929	D465V	probably damaging	Het
Macrod1	T	C	19: 7,196,792	V221A	probably damaging	Het
Mbd1	T	C	18: 74,273,617	S144P	possibly damaging	Het
Mtfmt	T	C	9: 65,452,021	V326A	probably benign	Het
Myo1b	T	C	1: 51,863,358	D71G	probably benign	Het
Myo1h	A	G	5: 114,355,213	Y705C	probably damaging	Het
Nudt9	T	C	5: 104,064,993	W311R	probably damaging	Het
Olfr132	A	G	17: 38,131,009	F61S	probably damaging	Het
Olfr47	A	T	6: 43,236,126	I173F	probably damaging	Het
Olfr743	C	T	14: 50,533,781	A123V	probably damaging	Het
Olfr808	G	A	10: 129,767,924	V143I	probably benign	Het
Osbp2	A	T	11: 3,863,407	L154Q	probably benign	Het
P3h1	A	G	4: 119,247,180	T633A	probably damaging	Het
Polq	T	G	16: 37,042,153	L616R	probably damaging	Het
Pon3	A	G	6: 5,232,429	L197S	possibly damaging	Het
Rap1gds1	C	T	3: 138,983,721		probably null	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rfng	C	A	11: 120,784,039		probably benign	Het
Rps6ka2	T	G	17: 7,300,322	L728R	probably benign	Het
Slc41a3	C	A	6: 90,642,320	N360K	possibly damaging	Het
Sult1e1	T	C	5: 87,578,538	N239S	probably damaging	Het
Tacr1	T	A	6: 82,492,597	I154N	probably damaging	Het
Tacstd2	T	A	6: 67,535,219	H163L	probably benign	Het
Tiam1	T	C	16: 89,793,164	S1382G	probably benign	Het
Tmem43	A	G	6: 91,479,929	E164G	possibly damaging	Het
U2af2	G	A	7: 5,067,546	R78H	probably benign	Het
Yipf7	T	A	5: 69,541,140	D8V	possibly damaging	Het
Zfp58	G	A	13: 67,491,005	H456Y	probably damaging	Het
Zfp799	G	A	17: 32,820,240	R351*	probably null	Het
Zfyve9	T	C	4: 108,695,819	D715G	probably damaging	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
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
R9088:Fgd2	UTSW	17	29364939	missense	probably damaging	1.00
R9525:Fgd2	UTSW	17	29364981	missense	probably damaging	1.00
Z1177:Fgd2	UTSW	17	29378326	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