Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Plekhg3'

576843

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7439 (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 76576485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 834 (D834G)

Ref Sequence

ENSEMBL: ENSMUSP00000074729 (fasta)

Gene Model

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

AlphaFold

Q4VAC9

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 damaging
Transcript: ENSMUST00000075249
AA Change: D834G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: D834G

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

probably damaging
Transcript: ENSMUST00000219063
AA Change: D833G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76562278	missense	possibly damaging	0.78
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
R0667_Plekhg3_072	UTSW	12	76576598	missense	probably damaging	1.00
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
R7081:Plekhg3	UTSW	12	76578245	missense	probably benign
R7349:Plekhg3	UTSW	12	76564565	missense	probably benign	0.45
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
R8886:Plekhg3	UTSW	12	76564974	missense	possibly damaging	0.81
R9090:Plekhg3	UTSW	12	76575920	missense	probably benign
R9117:Plekhg3	UTSW	12	76578131	missense	probably benign
R9220:Plekhg3	UTSW	12	76572065	missense	probably benign	0.18
R9271:Plekhg3	UTSW	12	76575920	missense	probably benign
R9294:Plekhg3	UTSW	12	76562278	missense	possibly damaging	0.78
R9394:Plekhg3	UTSW	12	76577088	missense	probably damaging	0.99
R9468:Plekhg3	UTSW	12	76560235	missense	probably damaging	0.98
R9711:Plekhg3	UTSW	12	76564952	missense	possibly damaging	0.83
R9747:Plekhg3	UTSW	12	76564593	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'- TAGGGACACCACGGCTTATC -3'
(R):5'- CTTGTACCCAACTGGAGCTG -3'

Sequencing Primer
(F):5'- TTATCAGCCGGAGCAGCAGTG -3'
(R):5'- CTGCTGGCTCTGAATCTGGC -3'

Posted On

2019-10-07