Mutagenetix > Incidental Mutation

Incidental Mutation 'R9428:Plekhg5'

712727

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

Accession Numbers

Essential gene?

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

Stock #

R9428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152156955-152199857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152192780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 582 (V582A)

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: V582A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: V582A

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: V582A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: V582A

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: V550A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: V550A

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: V569A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: V569A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Agmo	A	G	12: 37,455,330 (GRCm39)	I281M	probably benign	Het
Ahdc1	C	T	4: 132,791,773 (GRCm39)	P1005S	possibly damaging	Het
Akap12	T	A	10: 4,303,409 (GRCm39)	V178D	probably damaging	Het
Arc	A	G	15: 74,543,063 (GRCm39)	S387P	probably benign	Het
Arhgap11a	C	T	2: 113,667,279 (GRCm39)	V423I	probably benign	Het
Arhgap44	A	G	11: 64,899,168 (GRCm39)	S670P	probably damaging	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
C4bp	A	T	1: 130,581,094 (GRCm39)	F138L	probably benign	Het
Carmil1	A	T	13: 24,295,834 (GRCm39)	C393*	probably null	Het
Cblif	A	G	19: 11,735,102 (GRCm39)	T241A	probably benign	Het
Celsr1	A	T	15: 85,815,549 (GRCm39)	V1822E	possibly damaging	Het
Chgb	C	G	2: 132,635,154 (GRCm39)	S365R	probably damaging	Het
Cnih3	T	C	1: 181,180,857 (GRCm39)		probably benign	Het
Dcaf1	T	A	9: 106,735,528 (GRCm39)	D825E	possibly damaging	Het
Dlx3	T	C	11: 95,011,430 (GRCm39)	Y95H	probably benign	Het
Dmbt1	A	T	7: 130,668,208 (GRCm39)	E488V	unknown	Het
Espnl	A	G	1: 91,273,595 (GRCm39)	Y985C	probably damaging	Het
Frmpd2	T	C	14: 33,272,010 (GRCm39)	V1048A	probably damaging	Het
Fxn	A	T	19: 24,249,787 (GRCm39)	L100Q	probably damaging	Het
Gapvd1	T	A	2: 34,607,318 (GRCm39)	D560V	probably damaging	Het
Gm4924	T	A	10: 82,213,490 (GRCm39)	H429Q	unknown	Het
Gpr158	T	C	2: 21,787,972 (GRCm39)	F538L	probably benign	Het
Itpr1	T	A	6: 108,378,308 (GRCm39)	M1278K	possibly damaging	Het
Ivd	T	A	2: 118,708,369 (GRCm39)	V361E	probably damaging	Het
Kcnh6	T	C	11: 105,899,821 (GRCm39)	L30P	probably damaging	Het
Lipo4	C	T	19: 33,495,074 (GRCm39)	V35I	probably benign	Het
Lmo7	A	G	14: 102,155,076 (GRCm39)	D1200G	probably damaging	Het
Med1	T	A	11: 98,080,049 (GRCm39)	R31*	probably null	Het
Mill2	A	T	7: 18,573,950 (GRCm39)	R12*	probably null	Het
Mphosph8	A	G	14: 56,934,114 (GRCm39)		probably null	Het
Mtfr2	T	A	10: 20,233,039 (GRCm39)	S203T	possibly damaging	Het
Muc5ac	A	C	7: 141,362,559 (GRCm39)	T1957P	unknown	Het
Mxi1	C	A	19: 53,299,213 (GRCm39)	P28Q	probably benign	Het
Mycbpap	T	C	11: 94,393,995 (GRCm39)	D367G	probably damaging	Het
Nav3	T	C	10: 109,605,176 (GRCm39)	T966A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Ndst2	A	T	14: 20,775,470 (GRCm39)	F673L	possibly damaging	Het
Ndst3	T	A	3: 123,340,518 (GRCm39)	I767F	probably benign	Het
Nell1	A	T	7: 50,503,683 (GRCm39)	D696V	probably damaging	Het
Nol9	A	T	4: 152,124,109 (GRCm39)	T100S	probably benign	Het
Nr4a1	T	C	15: 101,168,245 (GRCm39)	S94P	probably damaging	Het
Nrdc	T	C	4: 108,858,121 (GRCm39)	I31T	probably damaging	Het
Oas2	T	A	5: 120,887,576 (GRCm39)	D88V	probably damaging	Het
Or8w1	T	C	2: 87,465,774 (GRCm39)	I106V	probably benign	Het
Pex6	A	G	17: 47,022,991 (GRCm39)	H189R	probably benign	Het
Pgap1	A	G	1: 54,575,206 (GRCm39)	S239P	probably damaging	Het
Pheta1	C	T	5: 121,991,147 (GRCm39)	P170S	possibly damaging	Het
Plec	A	G	15: 76,067,721 (GRCm39)		probably null	Het
Plekhh2	G	T	17: 84,873,841 (GRCm39)	E375D	probably benign	Het
Pramel55	G	T	5: 95,949,545 (GRCm39)	R97S	probably damaging	Het
Prp2rt	A	G	13: 97,235,724 (GRCm39)	S8P	probably benign	Het
Psmd4	G	A	3: 94,940,767 (GRCm39)	T332I	probably benign	Het
Ptprc	T	A	1: 138,041,485 (GRCm39)	T76S	probably benign	Het
Rab44	A	T	17: 29,358,315 (GRCm39)	I168L		Het
Ros1	T	C	10: 51,958,061 (GRCm39)	T1872A	probably benign	Het
Scgb1b24	A	T	7: 33,443,493 (GRCm39)	K51*	probably null	Het
Scube2	A	T	7: 109,428,345 (GRCm39)	D509E	probably benign	Het
Sgo2b	A	T	8: 64,393,067 (GRCm39)	S123R	probably damaging	Het
Smc3	G	C	19: 53,617,150 (GRCm39)	R521P	possibly damaging	Het
Socs4	G	A	14: 47,528,034 (GRCm39)	R323H	probably damaging	Het
Socs5	T	A	17: 87,441,067 (GRCm39)	D2E	probably benign	Het
Sra1	A	G	18: 36,810,299 (GRCm39)	V121A	probably damaging	Het
Stimate	T	C	14: 30,594,645 (GRCm39)	S253P	probably benign	Het
Tanc1	T	C	2: 59,601,548 (GRCm39)	L143P	probably damaging	Het
Tcerg1l	A	T	7: 137,811,490 (GRCm39)	F568Y	probably damaging	Het
Trpm7	T	C	2: 126,671,140 (GRCm39)	E614G	probably damaging	Het
Tuba4a	G	T	1: 75,192,686 (GRCm39)	H337Q		Het
Tubgcp6	G	A	15: 88,985,100 (GRCm39)	H1663Y	probably damaging	Het
Ush2a	A	G	1: 188,175,316 (GRCm39)	Y1138C	probably damaging	Het
Vmn1r18	A	T	6: 57,367,535 (GRCm39)	N6K	possibly damaging	Het
Vmn1r213	G	A	13: 23,195,944 (GRCm39)	A176T		Het
Vmn1r215	A	T	13: 23,260,749 (GRCm39)	H263L	probably benign	Het
Vmn2r51	CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC	CGGC	7: 9,833,712 (GRCm39)		probably benign	Het
Wdhd1	A	C	14: 47,489,427 (GRCm39)	L702*	probably null	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	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
R7319:Plekhg5	UTSW	4	152,192,885 (GRCm39)	missense	probably benign	0.13
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
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'- GTTAGGACTGAGCTCCACTC -3'
(R):5'- AGTGCTGGCTCACCTTATCC -3'

Sequencing Primer
(F):5'- AGGACTGAGCTCCACTCCATTC -3'
(R):5'- AACCTCGTAGGCATCGATCCG -3'

Posted On

2022-05-16