Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Plekhg3'

577582

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

045524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7449 (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 76566222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 434 (Q434R)

Ref Sequence

ENSEMBL: ENSMUSP00000074729 (fasta)

Gene Model

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

AlphaFold

Q4VAC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075249
AA Change: Q434R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: Q434R

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: Q434R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000219751

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly damaging	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76,562,278 (GRCm38)	missense	possibly damaging	0.78
IGL01143:Plekhg3	APN	12	76,564,982 (GRCm38)	critical splice donor site	probably null
IGL02079:Plekhg3	APN	12	76,560,429 (GRCm38)	missense	probably benign	0.01
IGL02349:Plekhg3	APN	12	76,562,300 (GRCm38)	missense	probably damaging	1.00
IGL02442:Plekhg3	APN	12	76,578,353 (GRCm38)	missense	probably benign	0.01
IGL02570:Plekhg3	APN	12	76,578,245 (GRCm38)	missense	probably benign
flagging	UTSW	12	76,560,520 (GRCm38)	critical splice donor site	probably null
R0667_Plekhg3_072	UTSW	12	76,576,598 (GRCm38)	missense	probably damaging	1.00
trailing	UTSW	12	76,564,961 (GRCm38)	missense	probably benign	0.15
R0344:Plekhg3	UTSW	12	76,566,266 (GRCm38)	nonsense	probably null
R0667:Plekhg3	UTSW	12	76,576,598 (GRCm38)	missense	probably damaging	1.00
R1269:Plekhg3	UTSW	12	76,560,469 (GRCm38)	missense	probably damaging	1.00
R1566:Plekhg3	UTSW	12	76,572,065 (GRCm38)	missense	possibly damaging	0.54
R1905:Plekhg3	UTSW	12	76,576,217 (GRCm38)	missense	probably benign	0.05
R2885:Plekhg3	UTSW	12	76,564,961 (GRCm38)	missense	probably benign	0.15
R2962:Plekhg3	UTSW	12	76,572,659 (GRCm38)	critical splice donor site	probably null
R3784:Plekhg3	UTSW	12	76,560,520 (GRCm38)	critical splice donor site	probably null
R3941:Plekhg3	UTSW	12	76,573,359 (GRCm38)	missense	probably damaging	0.98
R4056:Plekhg3	UTSW	12	76,565,247 (GRCm38)	missense	probably damaging	1.00
R4080:Plekhg3	UTSW	12	76,577,981 (GRCm38)	missense	probably benign	0.02
R4412:Plekhg3	UTSW	12	76,577,764 (GRCm38)	missense	probably damaging	0.96
R4413:Plekhg3	UTSW	12	76,577,764 (GRCm38)	missense	probably damaging	0.96
R4704:Plekhg3	UTSW	12	76,578,238 (GRCm38)	missense	probably damaging	1.00
R4720:Plekhg3	UTSW	12	76,578,322 (GRCm38)	missense	possibly damaging	0.59
R4738:Plekhg3	UTSW	12	76,576,914 (GRCm38)	missense	probably damaging	1.00
R4898:Plekhg3	UTSW	12	76,564,125 (GRCm38)	missense	probably damaging	1.00
R4994:Plekhg3	UTSW	12	76,565,537 (GRCm38)	missense	possibly damaging	0.68
R4999:Plekhg3	UTSW	12	76,565,247 (GRCm38)	missense	possibly damaging	0.95
R5484:Plekhg3	UTSW	12	76,578,400 (GRCm38)	missense	possibly damaging	0.76
R5591:Plekhg3	UTSW	12	76,560,292 (GRCm38)	missense	possibly damaging	0.80
R6019:Plekhg3	UTSW	12	76,577,941 (GRCm38)	nonsense	probably null
R6147:Plekhg3	UTSW	12	76,565,211 (GRCm38)	missense	probably damaging	0.96
R6272:Plekhg3	UTSW	12	76,576,845 (GRCm38)	missense	probably benign	0.00
R6482:Plekhg3	UTSW	12	76,576,004 (GRCm38)	missense	probably benign	0.01
R7081:Plekhg3	UTSW	12	76,578,245 (GRCm38)	missense	probably benign
R7349:Plekhg3	UTSW	12	76,564,565 (GRCm38)	missense	probably benign	0.45
R7439:Plekhg3	UTSW	12	76,576,485 (GRCm38)	missense	probably damaging	1.00
R7879:Plekhg3	UTSW	12	76,565,569 (GRCm38)	missense	probably damaging	1.00
R8256:Plekhg3	UTSW	12	76,562,267 (GRCm38)	missense	probably damaging	0.98
R8298:Plekhg3	UTSW	12	76,577,078 (GRCm38)	missense	probably damaging	1.00
R8492:Plekhg3	UTSW	12	76,576,016 (GRCm38)	missense	probably benign
R8886:Plekhg3	UTSW	12	76,564,974 (GRCm38)	missense	possibly damaging	0.81
R9090:Plekhg3	UTSW	12	76,575,920 (GRCm38)	missense	probably benign
R9117:Plekhg3	UTSW	12	76,578,131 (GRCm38)	missense	probably benign
R9220:Plekhg3	UTSW	12	76,572,065 (GRCm38)	missense	probably benign	0.18
R9271:Plekhg3	UTSW	12	76,575,920 (GRCm38)	missense	probably benign
R9294:Plekhg3	UTSW	12	76,562,278 (GRCm38)	missense	possibly damaging	0.78
R9394:Plekhg3	UTSW	12	76,577,088 (GRCm38)	missense	probably damaging	0.99
R9468:Plekhg3	UTSW	12	76,560,235 (GRCm38)	missense	probably damaging	0.98
R9711:Plekhg3	UTSW	12	76,564,952 (GRCm38)	missense	possibly damaging	0.83
R9747:Plekhg3	UTSW	12	76,564,593 (GRCm38)	missense	probably damaging	1.00
X0062:Plekhg3	UTSW	12	76,573,343 (GRCm38)	missense	possibly damaging	0.89
Z1176:Plekhg3	UTSW	12	76,575,856 (GRCm38)	critical splice acceptor site	probably null
Z1177:Plekhg3	UTSW	12	76,578,328 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCTAGCACCATCAGGAG -3'
(R):5'- AGAAGAGACGCCAAATCCTG -3'

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

Posted On

2019-10-07