Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Fgd2'

376626

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

042481-MU

Accession Numbers

Essential gene?

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

Stock #

R4871 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

29579878-29598509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29592223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 385 (H385R)

Ref Sequence

ENSEMBL: ENSMUSP00000024810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]

AlphaFold

Q8BY35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024810
AA Change: H385R

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: H385R

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

Meta Mutation Damage Score

0.1878

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,457,078 (GRCm39)	T270A	probably null	Het
Adgrv1	A	T	13: 81,681,241 (GRCm39)		probably benign	Het
Aldh1b1	A	T	4: 45,803,383 (GRCm39)	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,153,065 (GRCm39)	C220*	probably null	Het
Ank2	T	C	3: 126,753,444 (GRCm39)	Y279C	probably damaging	Het
Anks1	T	C	17: 28,210,351 (GRCm39)	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968 (GRCm39)	T383K	probably benign	Het
Asphd1	G	T	7: 126,547,747 (GRCm39)	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,613,748 (GRCm39)	I9F	probably damaging	Het
Bcl2l11	T	C	2: 127,970,961 (GRCm39)		probably benign	Het
C2cd3	T	G	7: 100,062,581 (GRCm39)	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,274,929 (GRCm39)	V156A	probably damaging	Het
Cdh8	G	C	8: 99,757,536 (GRCm39)	N687K	probably damaging	Het
Cdk19	A	G	10: 40,352,232 (GRCm39)	D338G	probably benign	Het
Cenpf	A	G	1: 189,390,728 (GRCm39)	C1035R	probably damaging	Het
Cep290	A	G	10: 100,384,776 (GRCm39)	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,224,650 (GRCm39)	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,262,300 (GRCm39)		probably benign	Het
Clasrp	T	C	7: 19,324,173 (GRCm39)	D234G	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddr2	A	G	1: 169,832,340 (GRCm39)	V150A	probably benign	Het
Dennd10	A	G	19: 60,819,252 (GRCm39)	E120G	probably damaging	Het
Dnah7b	T	C	1: 46,120,604 (GRCm39)	S74P	probably benign	Het
Dnttip2	C	A	3: 122,078,750 (GRCm39)	A743E	probably damaging	Het
Dysf	A	T	6: 84,044,005 (GRCm39)	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,462,905 (GRCm39)	E610G	probably damaging	Het
Edem3	T	G	1: 151,679,982 (GRCm39)		probably null	Het
Ext1	G	T	15: 52,955,773 (GRCm39)	N441K	probably benign	Het
Fam118a	A	G	15: 84,942,969 (GRCm39)	R333G	probably damaging	Het
Fat4	C	T	3: 38,945,754 (GRCm39)	T1549I	probably damaging	Het
Fbxo4	A	G	15: 4,005,394 (GRCm39)	V162A	probably damaging	Het
Garnl3	A	T	2: 32,977,100 (GRCm39)	M1K	probably null	Het
Gm37267	T	G	1: 180,338,083 (GRCm39)		noncoding transcript	Het
Gpbar1	C	T	1: 74,318,702 (GRCm39)	A315V	probably damaging	Het
Grm2	T	C	9: 106,524,844 (GRCm39)	I624V	probably benign	Het
Hmcn1	T	C	1: 150,468,836 (GRCm39)	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,716,448 (GRCm39)	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,385,241 (GRCm39)	S240P	unknown	Het
Igkv4-91	A	G	6: 68,745,604 (GRCm39)	I98T	probably damaging	Het
Krt72	T	C	15: 101,694,469 (GRCm39)	N142S	probably damaging	Het
Kynu	T	A	2: 43,569,830 (GRCm39)	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,434,898 (GRCm39)		probably benign	Het
Man1a2	C	A	3: 100,524,372 (GRCm39)	V359F	probably damaging	Het
Mast1	T	C	8: 85,647,287 (GRCm39)	I623M	probably damaging	Het
Mb	A	G	15: 76,906,687 (GRCm39)		probably null	Het
Mcm4	A	C	16: 15,452,374 (GRCm39)	L113*	probably null	Het
Mcub	C	T	3: 129,710,685 (GRCm39)	W249*	probably null	Het
Mme	T	A	3: 63,247,453 (GRCm39)	V246E	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	A	G	11: 116,025,098 (GRCm39)	Y232H	probably damaging	Het
Myh7b	T	A	2: 155,455,420 (GRCm39)	M89K	probably benign	Het
Notch4	A	G	17: 34,796,536 (GRCm39)	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,652,941 (GRCm39)	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Or12d12	T	A	17: 37,611,095 (GRCm39)	T73S	probably benign	Het
Or12d14-ps1	A	T	17: 37,673,337 (GRCm39)	I107L	probably benign	Het
Or14a259	A	T	7: 86,012,692 (GRCm39)	N284K	probably damaging	Het
Or5m12	T	A	2: 85,734,715 (GRCm39)	I228F	probably benign	Het
Or8b36	G	T	9: 37,937,822 (GRCm39)	C240F	probably damaging	Het
Or8k28	A	T	2: 86,286,153 (GRCm39)	I154N	possibly damaging	Het
Palld	A	T	8: 62,002,815 (GRCm39)		probably benign	Het
Pcdhga10	T	C	18: 37,881,253 (GRCm39)	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,890,459 (GRCm39)	Y489C	probably damaging	Het
Pgm2	T	C	5: 64,261,237 (GRCm39)	Y244H	probably benign	Het
Phactr4	A	T	4: 132,105,759 (GRCm39)	S102R	probably damaging	Het
Plekha5	A	G	6: 140,471,636 (GRCm39)	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,696,013 (GRCm39)	D255G	probably benign	Het
Rgs3	T	C	4: 62,549,532 (GRCm39)	V438A	probably benign	Het
Rnf186	A	G	4: 138,695,254 (GRCm39)	T265A	probably benign	Het
Ror1	T	C	4: 100,283,195 (GRCm39)	F420S	probably benign	Het
Rtkn2	A	G	10: 67,841,463 (GRCm39)	K204E	probably damaging	Het
Rundc1	A	G	11: 101,324,874 (GRCm39)	T527A	probably benign	Het
Samd4	T	C	14: 47,303,920 (GRCm39)	S301P	probably damaging	Het
Scaf1	G	A	7: 44,655,303 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,217,210 (GRCm39)	V1034A	probably benign	Het
Stab2	T	C	10: 86,778,099 (GRCm39)	D743G	probably damaging	Het
Stim1	A	T	7: 102,003,779 (GRCm39)	I71F	probably damaging	Het
Stk17b	T	C	1: 53,796,693 (GRCm39)	D358G	probably benign	Het
Sun2	A	G	15: 79,611,765 (GRCm39)	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,845,091 (GRCm39)	T41S	probably benign	Het
Tead3	T	A	17: 28,552,589 (GRCm39)	E268V	probably damaging	Het
Tead3	A	G	17: 28,553,962 (GRCm39)	S131P	probably benign	Het
Tepsin	A	T	11: 119,982,351 (GRCm39)	M505K	possibly damaging	Het
Trbv28	A	G	6: 41,248,668 (GRCm39)	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,749,142 (GRCm39)	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Uaca	T	C	9: 60,753,283 (GRCm39)	V76A	probably damaging	Het
Vwf	A	T	6: 125,663,425 (GRCm39)	T2789S	probably benign	Het
Yipf4	T	C	17: 74,801,089 (GRCm39)	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp804b	A	T	5: 6,926,479 (GRCm39)	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,538,183 (GRCm39)	G969R	probably damaging	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
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
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'- TGGTGACTGTTCAGAACCGTTC -3'
(R):5'- AGTAGTCTAGGCTCAGACTCC -3'

Sequencing Primer
(F):5'- GTTCCTCCACTCCACAACGGG -3'
(R):5'- TCTAGGCTCAGACTCCCCTGG -3'

Posted On

2016-03-17