Mutagenetix > Incidental Mutations

Incidental Mutation 'R0344:Plekhg3'

26456

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

038551-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76530891-76580488 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 76566266 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 449 (E449*)

Ref Sequence

ENSEMBL: ENSMUSP00000151851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075249] [ENSMUST00000219063] [ENSMUST00000219751]

Predicted Effect

probably null
Transcript: ENSMUST00000075249
AA Change: E449*

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: E449*

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: ENSMUST00000218357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218461

Predicted Effect

probably null
Transcript: ENSMUST00000219063
AA Change: E449*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219426

Predicted Effect

probably benign
Transcript: ENSMUST00000219751

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,820,301	C29*	probably null	Het
Abca4	G	A	3: 122,083,964	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,836,933		probably benign	Het
Abr	A	T	11: 76,479,044	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,865,595		probably null	Het
Aff3	A	T	1: 38,203,932	S936T	probably benign	Het
Agap3	T	C	5: 24,451,202		probably benign	Het
Ahrr	T	A	13: 74,214,586	S393C	probably damaging	Het
Amfr	T	C	8: 93,987,370		probably null	Het
Ankrd26	C	A	6: 118,507,637		probably null	Het
Asxl3	G	A	18: 22,517,611	V886I	probably benign	Het
Atp5a1	C	A	18: 77,780,195	N356K	probably damaging	Het
Atp5s	T	C	12: 69,740,889		probably benign	Het
AU021092	A	T	16: 5,222,167	M31K	possibly damaging	Het
Bicral	A	G	17: 46,814,052		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,850,772	D162G	probably benign	Het
Camkk2	C	T	5: 122,763,877	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079	I1051F	probably damaging	Het
Catsperg1	A	T	7: 29,195,540	V544E	probably damaging	Het
Cdc27	G	A	11: 104,526,991		probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Dennd6b	T	C	15: 89,196,229	Q56R	probably benign	Het
Fbxl17	G	A	17: 63,385,067		probably benign	Het
Fubp1	T	C	3: 152,219,713	V164A	probably damaging	Het
Gdap2	G	A	3: 100,178,256	G165S	probably damaging	Het
Gm13084	A	T	4: 143,810,768	I331N	probably damaging	Het
Gns	A	G	10: 121,383,423	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,191,249	T22M	probably damaging	Het
Herc3	A	G	6: 58,868,628		probably benign	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Inpp1	A	T	1: 52,799,354	F45L	probably damaging	Het
Ipo4	T	C	14: 55,625,942	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,118,147	K485E	probably benign	Het
Jak2	G	A	19: 29,283,629	V342I	probably damaging	Het
Kptn	C	A	7: 16,125,741	Q297K	probably damaging	Het
Lims2	A	G	18: 31,944,520	E103G	probably benign	Het
Mthfr	C	G	4: 148,055,428	S618W	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nup133	A	G	8: 123,917,446	V727A	possibly damaging	Het
Oas2	T	G	5: 120,743,087	E313A	probably damaging	Het
Olfr1031	T	A	2: 85,992,382	C188*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr487	A	T	7: 108,211,742	Y262*	probably null	Het
Olfr691	C	A	7: 105,337,607	M36I	probably benign	Het
Olfr961	G	A	9: 39,647,350	C208Y	probably damaging	Het
Park7	A	G	4: 150,908,349	V20A	possibly damaging	Het
Phldb1	C	A	9: 44,701,667	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,597,011	H4205Q	probably benign	Het
Pstpip1	T	C	9: 56,126,645	V301A	probably benign	Het
Ptdss1	G	A	13: 66,933,572	R22H	probably damaging	Het
Ptprq	A	G	10: 107,705,582	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,346,794	V1309E	possibly damaging	Het
Rere	T	C	4: 150,610,981		probably benign	Het
Sbk3	T	A	7: 4,967,405	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,505,010	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,326,131		probably benign	Het
Sik3	C	A	9: 46,208,811	Q683K	probably damaging	Het
Slc24a5	A	G	2: 125,085,701	I307V	probably benign	Het
Smg6	A	G	11: 74,929,821	D306G	probably damaging	Het
Snx13	G	A	12: 35,086,900	W120*	probably null	Het
Snx5	A	G	2: 144,257,208		probably benign	Het
Srsf5	T	C	12: 80,947,524	S76P	probably benign	Het
Stard6	A	G	18: 70,496,115	D31G	probably damaging	Het
Taf3	A	G	2: 9,951,898	M333T	probably benign	Het
Taf6	T	G	5: 138,181,147	I377L	probably benign	Het
Taf8	G	T	17: 47,493,580	N252K	probably benign	Het
Tfap2c	A	G	2: 172,551,503	T113A	probably benign	Het
Tmem246	T	C	4: 49,586,566	T201A	probably benign	Het
Tmtc4	C	T	14: 122,978,160	V25M	probably damaging	Het
Topbp1	T	A	9: 103,308,733		probably benign	Het
Topbp1	T	A	9: 103,328,687	D841E	probably damaging	Het
Ttn	A	T	2: 76,712,489	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,930,785	E928G	probably benign	Het
Vav1	T	C	17: 57,296,090	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,903,618	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,479,937	E87K	probably damaging	Het
Zfp229	A	T	17: 21,745,841	M351L	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
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
R7081:Plekhg3	UTSW	12	76578245	missense	probably benign
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
R7962:Plekhg3	UTSW	12	76565569	missense	probably damaging	1.00
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'- GAATATGCCATCCGGTATGGGCAG -3'
(R):5'- GGCTAAGAAGAGACGCCAAATCCTG -3'

Sequencing Primer
(F):5'- GGCAGCTTCTATTAGGCCG -3'
(R):5'- TTGAGCAGGTGGACAGCC -3'

Posted On

2013-04-16