Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Plekhg5'

568044

Institutional Source

Beutler Lab

Gene Symbol

Plekhg5

Ensembl Gene

ENSMUSG00000039713

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Synonyms

MMRRC Submission

045415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152156955-152199857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152192885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 593 (H593R)

Ref Sequence

ENSEMBL: ENSMUSP00000101286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084115] [ENSMUST00000105661] [ENSMUST00000105662] [ENSMUST00000118648]

AlphaFold

Q66T02

Predicted Effect

probably benign
Transcript: ENSMUST00000084115
AA Change: H593R

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: H593R

Domain	Start	End	E-Value	Type
low complexity region	314	334	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
RhoGEF	410	597	5.21e-53	SMART
PH	655	756	7.35e-12	SMART
low complexity region	778	790	N/A	INTRINSIC
low complexity region	895	934	N/A	INTRINSIC
low complexity region	1060	1069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105661
AA Change: H593R

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: H593R

Domain	Start	End	E-Value	Type
low complexity region	314	334	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
RhoGEF	410	597	5.21e-53	SMART
PH	655	756	7.35e-12	SMART
low complexity region	778	790	N/A	INTRINSIC
low complexity region	895	934	N/A	INTRINSIC
low complexity region	1060	1069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105662
AA Change: H561R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: H561R

Domain	Start	End	E-Value	Type
low complexity region	282	302	N/A	INTRINSIC
low complexity region	337	348	N/A	INTRINSIC
RhoGEF	378	565	5.21e-53	SMART
PH	623	724	7.35e-12	SMART
low complexity region	746	758	N/A	INTRINSIC
low complexity region	863	902	N/A	INTRINSIC
low complexity region	1028	1037	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118648
AA Change: H580R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: H580R

Domain	Start	End	E-Value	Type
low complexity region	301	321	N/A	INTRINSIC
low complexity region	356	367	N/A	INTRINSIC
RhoGEF	397	584	5.21e-53	SMART
PH	642	743	7.35e-12	SMART
low complexity region	765	777	N/A	INTRINSIC
low complexity region	882	921	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: This gene encodes a protein belonging to the Rho guanine exchange factor (GEF) family of proteins, which activate GTPases by replacing GDP with GTP. This family member is a RhoA GEF that plays a role in endothelial cell migration and tube formation. It is required for angiogenesis and may function in neuronal cell differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,393,635 (GRCm39)	I287N	probably benign	Het
Aco2	G	T	15: 81,787,820 (GRCm39)	E223D	probably damaging	Het
Acsf3	T	A	8: 123,539,770 (GRCm39)	I466N	probably damaging	Het
Albfm1	G	A	5: 90,719,625 (GRCm39)		probably null	Het
Aox3	T	A	1: 58,191,761 (GRCm39)	F438I	probably benign	Het
Arhgap33	T	C	7: 30,225,794 (GRCm39)	T591A	probably benign	Het
Ash1l	C	T	3: 88,888,694 (GRCm39)	A191V	probably benign	Het
Btg2	T	C	1: 134,006,779 (GRCm39)	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150 (GRCm39)	Y329N	probably damaging	Het
Cacna1h	A	G	17: 25,608,435 (GRCm39)	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,731,817 (GRCm39)	I182V	probably benign	Het
Ccdc150	T	A	1: 54,302,496 (GRCm39)		probably null	Het
Chek1	T	A	9: 36,633,939 (GRCm39)	R129W	probably damaging	Het
Chrna6	A	G	8: 27,896,815 (GRCm39)	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,185 (GRCm39)	T181A	probably benign	Het
Csmd2	A	T	4: 128,287,472 (GRCm39)	Y1069F		Het
Defb28	T	A	2: 152,361,974 (GRCm39)	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,018,551 (GRCm39)	Y1360H	probably benign	Het
Dnah7c	T	C	1: 46,823,608 (GRCm39)	V3749A	possibly damaging	Het
Dnah7c	T	A	1: 46,819,935 (GRCm39)	D3728E	probably benign	Het
Dym	G	A	18: 75,196,245 (GRCm39)		probably null	Het
Dync2i2	G	A	2: 29,928,341 (GRCm39)	P95L	probably benign	Het
Dzip3	A	G	16: 48,747,903 (GRCm39)		probably null	Het
Eef1akmt4	A	G	16: 20,436,666 (GRCm39)	K163E	probably benign	Het
Fbrs	A	G	7: 127,081,985 (GRCm39)	T242A	possibly damaging	Het
Fgfr3	G	A	5: 33,885,146 (GRCm39)	V87M	possibly damaging	Het
Fst	A	T	13: 114,595,068 (GRCm39)	C19S	probably benign	Het
Gm7276	G	A	18: 77,273,216 (GRCm39)	R173W	unknown	Het
Gm9195	G	A	14: 72,697,929 (GRCm39)	H1284Y	probably benign	Het
Herc6	C	A	6: 57,581,074 (GRCm39)	T258K	probably damaging	Het
Hip1r	A	G	5: 124,137,174 (GRCm39)	Y678C	probably damaging	Het
Ifne	A	T	4: 88,798,243 (GRCm39)	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,752,163 (GRCm39)	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,746,520 (GRCm39)	F1276L	probably damaging	Het
Itprid2	A	T	2: 79,466,416 (GRCm39)	D82V	probably damaging	Het
Kcnc4	T	A	3: 107,366,100 (GRCm39)	E36V	probably benign	Het
Kcnq2	C	T	2: 180,750,895 (GRCm39)	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,255,200 (GRCm39)	V585M	probably damaging	Het
Klhl26	C	T	8: 70,905,592 (GRCm39)	R106H	probably damaging	Het
Kmo	T	C	1: 175,481,221 (GRCm39)	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,443,740 (GRCm39)	S808T	unknown	Het
Lrch3	A	G	16: 32,815,363 (GRCm39)	T585A	probably benign	Het
Lrch4	T	A	5: 137,637,977 (GRCm39)	H86Q		Het
Map3k20	A	G	2: 72,195,062 (GRCm39)	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,396,417 (GRCm39)	S181P	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Med27	A	G	2: 29,303,490 (GRCm39)	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,437,762 (GRCm39)	S196R	possibly damaging	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,526,185 (GRCm39)		probably null	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Pcdha11	C	T	18: 37,146,245 (GRCm39)	P779S	probably benign	Het
Phykpl	A	G	11: 51,489,530 (GRCm39)	T379A	probably benign	Het
Plekha8	A	C	6: 54,601,206 (GRCm39)	M270L	probably benign	Het
Polr2a	T	C	11: 69,637,196 (GRCm39)	N293S	possibly damaging	Het
Pramel32	G	A	4: 88,548,184 (GRCm39)	P74S	probably benign	Het
Prex2	T	A	1: 11,232,532 (GRCm39)	N866K	probably benign	Het
Psme4	A	T	11: 30,757,790 (GRCm39)	I308L	probably benign	Het
Ptprb	T	C	10: 116,177,309 (GRCm39)	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Rnaset2b	A	T	17: 7,259,166 (GRCm39)	D144V	probably benign	Het
Senp6	T	G	9: 80,033,481 (GRCm39)	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,200,817 (GRCm39)	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,672,543 (GRCm39)	Y113*	probably null	Het
Sgf29	T	C	7: 126,270,821 (GRCm39)	I134T	probably benign	Het
Sh3bp4	T	G	1: 89,080,824 (GRCm39)		probably null	Het
Stab1	G	A	14: 30,862,783 (GRCm39)	L2243F	probably damaging	Het
Sympk	T	C	7: 18,769,770 (GRCm39)	V149A	probably benign	Het
Syt3	C	T	7: 44,041,953 (GRCm39)	Q271*	probably null	Het
Tas2r109	A	G	6: 132,957,663 (GRCm39)	I89T	probably benign	Het
Tgif1	A	G	17: 71,151,847 (GRCm39)	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,875,432 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,347 (GRCm39)	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,579,428 (GRCm39)	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540 (GRCm39)	S915P	unknown	Het
Tpm4	C	T	8: 72,900,321 (GRCm39)	L161F	probably damaging	Het
Trim38	C	T	13: 23,975,384 (GRCm39)	T441I	probably damaging	Het
Trpv1	A	G	11: 73,141,620 (GRCm39)	M548V	probably benign	Het
Vmn2r68	T	A	7: 84,883,042 (GRCm39)	T237S	probably benign	Het
Zc3hav1	A	G	6: 38,309,209 (GRCm39)	S538P	probably benign	Het
Zfp541	C	T	7: 15,813,294 (GRCm39)	T649I	probably benign	Het

Other mutations in Plekhg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Plekhg5	APN	4	152,186,498 (GRCm39)	splice site	probably null
IGL01025:Plekhg5	APN	4	152,192,983 (GRCm39)	missense	probably damaging	1.00
IGL01062:Plekhg5	APN	4	152,192,953 (GRCm39)	missense	probably damaging	1.00
IGL01138:Plekhg5	APN	4	152,191,435 (GRCm39)	missense	probably damaging	1.00
IGL01301:Plekhg5	APN	4	152,197,010 (GRCm39)	missense	probably benign
IGL02372:Plekhg5	APN	4	152,186,537 (GRCm39)	missense	probably damaging	0.96
IGL02701:Plekhg5	APN	4	152,187,479 (GRCm39)	missense	probably damaging	1.00
ANU18:Plekhg5	UTSW	4	152,197,010 (GRCm39)	missense	probably benign
R0005:Plekhg5	UTSW	4	152,197,108 (GRCm39)	small deletion	probably benign
R0012:Plekhg5	UTSW	4	152,189,207 (GRCm39)	missense	probably benign	0.20
R0050:Plekhg5	UTSW	4	152,192,545 (GRCm39)	critical splice donor site	probably null
R0233:Plekhg5	UTSW	4	152,196,676 (GRCm39)	missense	probably damaging	1.00
R0233:Plekhg5	UTSW	4	152,196,676 (GRCm39)	missense	probably damaging	1.00
R0234:Plekhg5	UTSW	4	152,196,676 (GRCm39)	missense	probably damaging	1.00
R0346:Plekhg5	UTSW	4	152,198,710 (GRCm39)	missense	probably benign	0.08
R0555:Plekhg5	UTSW	4	152,191,926 (GRCm39)	nonsense	probably null
R0631:Plekhg5	UTSW	4	152,196,876 (GRCm39)	missense	possibly damaging	0.89
R0639:Plekhg5	UTSW	4	152,198,577 (GRCm39)	missense	probably benign	0.19
R1372:Plekhg5	UTSW	4	152,189,188 (GRCm39)	missense	probably damaging	0.99
R1563:Plekhg5	UTSW	4	152,181,266 (GRCm39)	missense	probably benign	0.33
R2870:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R2870:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R2871:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R2871:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R2872:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R2872:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R2873:Plekhg5	UTSW	4	152,191,960 (GRCm39)	missense	probably benign	0.01
R3104:Plekhg5	UTSW	4	152,196,635 (GRCm39)	missense	probably damaging	1.00
R3106:Plekhg5	UTSW	4	152,196,635 (GRCm39)	missense	probably damaging	1.00
R3408:Plekhg5	UTSW	4	152,192,749 (GRCm39)	missense	probably damaging	1.00
R4289:Plekhg5	UTSW	4	152,196,884 (GRCm39)	missense	probably benign	0.05
R5157:Plekhg5	UTSW	4	152,192,322 (GRCm39)	splice site	probably benign
R5643:Plekhg5	UTSW	4	152,188,797 (GRCm39)	missense	probably benign	0.14
R5644:Plekhg5	UTSW	4	152,188,797 (GRCm39)	missense	probably benign	0.14
R5790:Plekhg5	UTSW	4	152,198,392 (GRCm39)	missense	probably benign
R6770:Plekhg5	UTSW	4	152,187,536 (GRCm39)	missense	probably benign
R7027:Plekhg5	UTSW	4	152,198,431 (GRCm39)	missense	probably benign	0.01
R7039:Plekhg5	UTSW	4	152,192,242 (GRCm39)	missense	possibly damaging	0.90
R7092:Plekhg5	UTSW	4	152,198,965 (GRCm39)	missense	probably damaging	1.00
R7309:Plekhg5	UTSW	4	152,196,985 (GRCm39)	missense	possibly damaging	0.50
R7439:Plekhg5	UTSW	4	152,198,392 (GRCm39)	missense	probably benign	0.19
R7543:Plekhg5	UTSW	4	152,192,491 (GRCm39)	missense	probably damaging	1.00
R7662:Plekhg5	UTSW	4	152,188,755 (GRCm39)	missense	probably damaging	1.00
R8271:Plekhg5	UTSW	4	152,187,464 (GRCm39)	missense	probably damaging	1.00
R8322:Plekhg5	UTSW	4	152,189,201 (GRCm39)	missense	possibly damaging	0.77
R8827:Plekhg5	UTSW	4	152,191,462 (GRCm39)	splice site	probably benign
R8987:Plekhg5	UTSW	4	152,188,372 (GRCm39)	intron	probably benign
R9024:Plekhg5	UTSW	4	152,197,118 (GRCm39)	missense	possibly damaging	0.71
R9428:Plekhg5	UTSW	4	152,192,780 (GRCm39)	missense	probably benign	0.00
R9515:Plekhg5	UTSW	4	152,198,826 (GRCm39)	missense	probably benign	0.09
R9672:Plekhg5	UTSW	4	152,187,541 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TACCCACTGCTGCTCAAGTC -3'
(R):5'- TGTCAAAAGTCAGGGCCAC -3'

Sequencing Primer
(F):5'- CTGCTCAAGTCGGTGCTAAG -3'
(R):5'- CAAGGGAGATCTGCAGCATCTC -3'

Posted On

2019-06-26