Mutagenetix > Incidental Mutations

Incidental Mutation 'R7081:Plekhg3'

549554

Institutional Source

Beutler Lab

Gene Symbol

Plekhg3

Ensembl Gene

ENSMUSG00000052609

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 3

Synonyms

MGC40768

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76530891-76580488 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76578245 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1287 (E1287G)

Ref Sequence

ENSEMBL: ENSMUSP00000151851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000075249] [ENSMUST00000219063]

Predicted Effect

probably benign
Transcript: ENSMUST00000021458

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061

Domain	Start	End	E-Value	Type
CH	56	156	2.73e-26	SMART
CH	175	273	4.57e-28	SMART
SPEC	305	411	2.71e0	SMART
SPEC	425	525	4.65e-23	SMART
SPEC	531	634	4.51e-21	SMART
SPEC	640	740	3.02e-31	SMART
SPEC	746	845	1.47e-20	SMART
SPEC	851	951	1.04e-20	SMART
SPEC	957	1058	7.22e-20	SMART
SPEC	1064	1165	2.06e-24	SMART
SPEC	1171	1271	3.84e-15	SMART
SPEC	1277	1376	2.22e-20	SMART
SPEC	1382	1475	5.04e-10	SMART
SPEC	1481	1581	3.58e-24	SMART
SPEC	1587	1687	4.11e-24	SMART
SPEC	1693	1794	2.91e-24	SMART
SPEC	1800	1900	7.8e-16	SMART
SPEC	1906	2006	3.16e-25	SMART
SPEC	2012	2193	4.32e-9	SMART
PH	2180	2291	8.98e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075249
AA Change: E1288G

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

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: E1288G

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
RhoGEF	97	271	6.67e-51	SMART
PH	297	396	2.48e-9	SMART
coiled coil region	515	552	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	727	737	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC
low complexity region	978	993	N/A	INTRINSIC
low complexity region	1233	1246	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218427

Predicted Effect

probably benign
Transcript: ENSMUST00000219063
AA Change: E1287G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219426

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,817	V82A	possibly damaging	Het
Aatf	T	A	11: 84,471,125	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,934,263	N664K	probably benign	Het
Adh7	A	G	3: 138,228,845	D343G	probably benign	Het
Als2cl	G	A	9: 110,894,582	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,875,348	I334R	probably damaging	Het
Ankrd45	A	G	1: 161,151,293	N101D	probably benign	Het
Arhgef10	C	T	8: 14,997,547	Q1137*	probably null	Het
Asap3	T	A	4: 136,241,570		probably null	Het
Bmp2k	T	C	5: 97,064,961	S568P	unknown	Het
C4b	A	C	17: 34,735,443	F917L	probably benign	Het
Cacna1e	A	T	1: 154,700,383	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,126,087	I543F	probably benign	Het
Cd36	T	C	5: 17,814,704	D133G	probably damaging	Het
Chd4	T	C	6: 125,129,985	V1911A	unknown	Het
Cplx4	A	T	18: 65,967,467		probably null	Het
Cyp1a2	A	T	9: 57,678,989	D415E	possibly damaging	Het
Cyp3a57	T	C	5: 145,381,373	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,546,861		probably null	Het
Dock4	A	T	12: 40,621,286	I35F	probably damaging	Het
Efna4	A	T	3: 89,334,294	L206Q	unknown	Het
Eif2a	T	C	3: 58,541,718		probably null	Het
Fam120a	A	G	13: 48,910,325	F612L	probably damaging	Het
Fbxw21	A	G	9: 109,161,922	L23P	probably damaging	Het
Fcamr	A	T	1: 130,813,212	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,530,994	R106H	probably benign	Het
Galr2	T	A	11: 116,283,048	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,553,540	S22L	unknown	Het
Gm14124	A	G	2: 150,268,269	H293R	possibly damaging	Het
Gm3183	T	A	5: 94,874,782	N107K	possibly damaging	Het
Gnpat	T	C	8: 124,863,269	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,017,452	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Ifna12	T	C	4: 88,603,203	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,300,018	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,741,361	D683E	probably benign	Het
Krit1	T	C	5: 3,823,651	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,121,323	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,102,139	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,457,955	N2638S	unknown	Het
Lrrc40	T	C	3: 158,036,805	V27A	probably damaging	Het
Map4k1	T	C	7: 28,991,149	V355A	probably benign	Het
Mylk3	T	C	8: 85,364,793	I128V	probably benign	Het
Myo1c	A	G	11: 75,660,963	D289G	probably benign	Het
Mypn	A	G	10: 63,134,958	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,527,433	P99L	possibly damaging	Het
Nlrp10	A	C	7: 108,924,648	S542A	probably benign	Het
Noc2l	T	A	4: 156,247,020	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,851,789	I355F	probably benign	Het
Nup210	A	G	6: 91,060,665	V742A	possibly damaging	Het
Olfr1037	A	T	2: 86,085,595	F61I	probably damaging	Het
Olfr560	A	T	7: 102,753,188	I247N	probably benign	Het
Olig2	T	A	16: 91,226,419	L7Q	probably damaging	Het
Parpbp	A	T	10: 88,093,655	W444R	probably damaging	Het
Pramef25	T	C	4: 143,949,278	D326G	probably damaging	Het
Prrc2b	A	T	2: 32,213,063	Q851L	probably benign	Het
Psg21	C	T	7: 18,654,849	W106*	probably null	Het
Rab18	T	G	18: 6,778,529	D53E	probably benign	Het
Rbm19	T	A	5: 120,123,151		probably null	Het
Rhobtb1	T	C	10: 69,266,297	V136A	probably benign	Het
Rsph4a	G	A	10: 33,909,193	V367I	probably damaging	Het
Sec24b	T	C	3: 129,987,742	N1161S	probably benign	Het
Sgcd	C	A	11: 47,125,601	G145*	probably null	Het
Sin3a	A	G	9: 57,094,471	K134R	probably null	Het
Slc9b2	A	G	3: 135,321,937	E108G	probably benign	Het
Stk24	A	T	14: 121,294,294	S317T	probably benign	Het
Stra8	T	A	6: 34,934,367		probably null	Het
Tmem131	A	G	1: 36,889,295	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,380,783	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,895,005	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,803,450	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,315,620	N667K	possibly damaging	Het
Zfp609	A	G	9: 65,702,441	V1080A	possibly damaging	Het
Zhx1	C	T	15: 58,054,338	V171I	probably benign	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76562278	missense	probably damaging	0.99
IGL01143:Plekhg3	APN	12	76564982	critical splice donor site	probably null
IGL02079:Plekhg3	APN	12	76560429	missense	probably benign	0.01
IGL02349:Plekhg3	APN	12	76562300	missense	probably damaging	1.00
IGL02442:Plekhg3	APN	12	76578353	missense	probably benign	0.01
IGL02570:Plekhg3	APN	12	76578245	missense	probably benign
flagging	UTSW	12	76560520	critical splice donor site	probably null
trailing	UTSW	12	76564961	missense	probably benign	0.15
R0344:Plekhg3	UTSW	12	76566266	nonsense	probably null
R0667:Plekhg3	UTSW	12	76576598	missense	probably damaging	1.00
R1269:Plekhg3	UTSW	12	76560469	missense	probably damaging	1.00
R1566:Plekhg3	UTSW	12	76572065	missense	possibly damaging	0.54
R1905:Plekhg3	UTSW	12	76576217	missense	probably benign	0.05
R2885:Plekhg3	UTSW	12	76564961	missense	probably benign	0.15
R2962:Plekhg3	UTSW	12	76572659	critical splice donor site	probably null
R3784:Plekhg3	UTSW	12	76560520	critical splice donor site	probably null
R3941:Plekhg3	UTSW	12	76573359	missense	probably damaging	0.98
R4056:Plekhg3	UTSW	12	76565247	missense	probably damaging	1.00
R4080:Plekhg3	UTSW	12	76577981	missense	probably benign	0.02
R4412:Plekhg3	UTSW	12	76577764	missense	probably damaging	0.96
R4413:Plekhg3	UTSW	12	76577764	missense	probably damaging	0.96
R4704:Plekhg3	UTSW	12	76578238	missense	probably damaging	1.00
R4720:Plekhg3	UTSW	12	76578322	missense	possibly damaging	0.59
R4738:Plekhg3	UTSW	12	76576914	missense	probably damaging	1.00
R4898:Plekhg3	UTSW	12	76564125	missense	probably damaging	1.00
R4994:Plekhg3	UTSW	12	76565537	missense	possibly damaging	0.68
R4999:Plekhg3	UTSW	12	76565247	missense	possibly damaging	0.95
R5484:Plekhg3	UTSW	12	76578400	missense	possibly damaging	0.76
R5591:Plekhg3	UTSW	12	76560292	missense	possibly damaging	0.80
R6019:Plekhg3	UTSW	12	76577941	nonsense	probably null
R6147:Plekhg3	UTSW	12	76565211	missense	probably damaging	0.96
R6272:Plekhg3	UTSW	12	76576845	missense	probably benign	0.00
R6482:Plekhg3	UTSW	12	76576004	missense	probably benign	0.01
R7349:Plekhg3	UTSW	12	76564565	missense	probably benign	0.45
R7439:Plekhg3	UTSW	12	76576485	missense	probably damaging	1.00
R7449:Plekhg3	UTSW	12	76566222	missense	probably damaging	0.98
R7879:Plekhg3	UTSW	12	76565569	missense	probably damaging	1.00
R8256:Plekhg3	UTSW	12	76562267	missense	probably damaging	0.98
R8298:Plekhg3	UTSW	12	76577078	missense	probably damaging	1.00
R8492:Plekhg3	UTSW	12	76576016	missense	probably benign
X0062:Plekhg3	UTSW	12	76573343	missense	possibly damaging	0.89
Z1176:Plekhg3	UTSW	12	76575856	critical splice acceptor site	probably null
Z1177:Plekhg3	UTSW	12	76578328	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTCCCATGTCTGGCAAG -3'
(R):5'- CCTTTAGGAGTCAATCAACCCACAG -3'

Sequencing Primer
(F):5'- TGCTGTGGCCTGAACAC -3'
(R):5'- AGAGTTCAAGGCCTGGAACTTCTC -3'

Posted On

2019-05-15