Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Fgd2'

189604

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

039722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R1689 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

29360914-29379660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29363722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 26 (E26G)

Ref Sequence

ENSEMBL: ENSMUSP00000118828 (fasta)

Gene Model

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

AlphaFold

Q8BY35

Predicted Effect

probably benign
Transcript: ENSMUST00000024810
AA Change: E26G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: E26G

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
AA Change: E26G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: E26G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146800

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403 (GRCm38)	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562 (GRCm38)		probably null	Het
Adgre1	T	C	17: 57,449,921 (GRCm38)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383 (GRCm38)	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151 (GRCm38)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688 (GRCm38)	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222 (GRCm38)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537 (GRCm38)	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575 (GRCm38)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302 (GRCm38)	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179 (GRCm38)	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496 (GRCm38)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,164,406 (GRCm38)	D583V	possibly damaging	Het
Bcl11a	A	T	11: 24,163,167 (GRCm38)	Y170F	probably damaging	Het
Btnl1	T	A	17: 34,381,208 (GRCm38)	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607 (GRCm38)	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422 (GRCm38)	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304 (GRCm38)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873 (GRCm38)		probably null	Het
Cysltr2	T	C	14: 73,030,030 (GRCm38)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544 (GRCm38)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935 (GRCm38)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476 (GRCm38)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026 (GRCm38)	K373*	probably null	Het
F5	G	C	1: 164,198,917 (GRCm38)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036 (GRCm38)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617 (GRCm38)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689 (GRCm38)	E191G	probably benign	Het
Gabra4	T	C	5: 71,633,542 (GRCm38)		probably null	Het
Gc	A	G	5: 89,441,200 (GRCm38)		probably null	Het
Heatr1	T	A	13: 12,424,625 (GRCm38)	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357 (GRCm38)	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937 (GRCm38)	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760 (GRCm38)	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552 (GRCm38)	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820 (GRCm38)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585 (GRCm38)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545 (GRCm38)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753 (GRCm38)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529 (GRCm38)	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717 (GRCm38)	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998 (GRCm38)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254 (GRCm38)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082 (GRCm38)	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604 (GRCm38)	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977 (GRCm38)	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126 (GRCm38)	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615 (GRCm38)		probably benign	Het
Pappa2	A	G	1: 158,957,398 (GRCm38)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239 (GRCm38)	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492 (GRCm38)	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767 (GRCm38)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Senp2	T	A	16: 22,026,666 (GRCm38)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372 (GRCm38)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118 (GRCm38)	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162 (GRCm38)	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614 (GRCm38)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246 (GRCm38)	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455 (GRCm38)	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107 (GRCm38)		probably null	Het
Vsig10	A	G	5: 117,352,760 (GRCm38)	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368 (GRCm38)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596 (GRCm38)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191 (GRCm38)	D60V	probably damaging	Het

Other mutations in Fgd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Fgd2	APN	17	29,367,975 (GRCm38)	missense	probably damaging	1.00
IGL01505:Fgd2	APN	17	29,366,997 (GRCm38)	missense	probably damaging	1.00
IGL03240:Fgd2	APN	17	29,361,161 (GRCm38)	splice site	probably benign
ceci	UTSW	17	29,368,376 (GRCm38)	splice site	probably null
R0046:Fgd2	UTSW	17	29,374,990 (GRCm38)	splice site	probably benign
R0271:Fgd2	UTSW	17	29,367,008 (GRCm38)	missense	possibly damaging	0.94
R0594:Fgd2	UTSW	17	29,365,552 (GRCm38)	missense	probably damaging	1.00
R0612:Fgd2	UTSW	17	29,378,347 (GRCm38)	missense	probably benign	0.45
R1470:Fgd2	UTSW	17	29,374,108 (GRCm38)	splice site	probably benign
R1551:Fgd2	UTSW	17	29,378,409 (GRCm38)	missense	probably damaging	1.00
R1596:Fgd2	UTSW	17	29,376,930 (GRCm38)	missense	probably benign	0.43
R1664:Fgd2	UTSW	17	29,369,299 (GRCm38)	missense	probably damaging	1.00
R1691:Fgd2	UTSW	17	29,378,944 (GRCm38)	nonsense	probably null
R1695:Fgd2	UTSW	17	29,368,245 (GRCm38)	missense	possibly damaging	0.88
R2697:Fgd2	UTSW	17	29,376,921 (GRCm38)	missense	probably damaging	1.00
R3500:Fgd2	UTSW	17	29,365,601 (GRCm38)	missense	possibly damaging	0.74
R3689:Fgd2	UTSW	17	29,378,950 (GRCm38)	missense	probably benign	0.00
R4583:Fgd2	UTSW	17	29,367,078 (GRCm38)	missense	possibly damaging	0.87
R4871:Fgd2	UTSW	17	29,373,249 (GRCm38)	missense	possibly damaging	0.89
R5011:Fgd2	UTSW	17	29,374,980 (GRCm38)	critical splice donor site	probably null
R5209:Fgd2	UTSW	17	29,368,376 (GRCm38)	splice site	probably null
R7106:Fgd2	UTSW	17	29,376,970 (GRCm38)	nonsense	probably null
R7139:Fgd2	UTSW	17	29,373,255 (GRCm38)	missense	probably damaging	1.00
R7712:Fgd2	UTSW	17	29,376,912 (GRCm38)	missense	probably benign	0.01
R7833:Fgd2	UTSW	17	29,367,395 (GRCm38)	missense	possibly damaging	0.81
R7834:Fgd2	UTSW	17	29,364,951 (GRCm38)	missense	probably damaging	1.00
R7913:Fgd2	UTSW	17	29,374,045 (GRCm38)	missense	probably damaging	1.00
R8547:Fgd2	UTSW	17	29,364,960 (GRCm38)	missense	probably damaging	0.99
R8686:Fgd2	UTSW	17	29,379,023 (GRCm38)	missense	probably benign
R9088:Fgd2	UTSW	17	29,364,939 (GRCm38)	missense	probably damaging	1.00
R9525:Fgd2	UTSW	17	29,364,981 (GRCm38)	missense	probably damaging	1.00
R9601:Fgd2	UTSW	17	29,374,886 (GRCm38)	missense	probably benign	0.09
Z1177:Fgd2	UTSW	17	29,378,326 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCCCAGAGGACACTCAGAAGGATG -3'
(R):5'- TGGAAGGCCAAGAGGTCCTACTAC -3'

Sequencing Primer
(F):5'- cacaaaaccctgccgcc -3'
(R):5'- ccaagaggTCCTACTACCCATTC -3'

Posted On

2014-05-14