Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Plekhg5'

304118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhg5

Ensembl Gene

ENSMUSG00000039713

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

152072498-152115400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152103022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 82 (S82P)

Ref Sequence

ENSEMBL: ENSMUSP00000112707 (fasta)

Gene Model

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

AlphaFold

Q66T02

Predicted Effect

probably damaging
Transcript: ENSMUST00000084115
AA Change: S95P

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

SMART Domains

Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: S95P

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 damaging
Transcript: ENSMUST00000105661
AA Change: S95P

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

SMART Domains

Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: S95P

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 damaging
Transcript: ENSMUST00000105662
AA Change: S63P

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

SMART Domains

Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: S63P

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 damaging
Transcript: ENSMUST00000118648
AA Change: S82P

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

SMART Domains

Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: S82P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142412

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Plekhg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Plekhg5	APN	4	152102041	splice site	probably null
IGL01025:Plekhg5	APN	4	152108526	missense	probably damaging	1.00
IGL01062:Plekhg5	APN	4	152108496	missense	probably damaging	1.00
IGL01138:Plekhg5	APN	4	152106978	missense	probably damaging	1.00
IGL01301:Plekhg5	APN	4	152112553	missense	probably benign
IGL02372:Plekhg5	APN	4	152102080	missense	probably damaging	0.96
ANU18:Plekhg5	UTSW	4	152112553	missense	probably benign
R0005:Plekhg5	UTSW	4	152112651	small deletion	probably benign
R0012:Plekhg5	UTSW	4	152104750	missense	probably benign	0.20
R0050:Plekhg5	UTSW	4	152108088	critical splice donor site	probably null
R0233:Plekhg5	UTSW	4	152112219	missense	probably damaging	1.00
R0233:Plekhg5	UTSW	4	152112219	missense	probably damaging	1.00
R0234:Plekhg5	UTSW	4	152112219	missense	probably damaging	1.00
R0346:Plekhg5	UTSW	4	152114253	missense	probably benign	0.08
R0555:Plekhg5	UTSW	4	152107469	nonsense	probably null
R0631:Plekhg5	UTSW	4	152112419	missense	possibly damaging	0.89
R0639:Plekhg5	UTSW	4	152114120	missense	probably benign	0.19
R1372:Plekhg5	UTSW	4	152104731	missense	probably damaging	0.99
R1563:Plekhg5	UTSW	4	152096809	missense	probably benign	0.33
R2870:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R2870:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R2871:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R2871:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R2872:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R2872:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R2873:Plekhg5	UTSW	4	152107503	missense	probably benign	0.01
R3104:Plekhg5	UTSW	4	152112178	missense	probably damaging	1.00
R3106:Plekhg5	UTSW	4	152112178	missense	probably damaging	1.00
R3408:Plekhg5	UTSW	4	152108292	missense	probably damaging	1.00
R4289:Plekhg5	UTSW	4	152112427	missense	probably benign	0.05
R5157:Plekhg5	UTSW	4	152107865	splice site	probably benign
R5643:Plekhg5	UTSW	4	152104340	missense	probably benign	0.14
R5644:Plekhg5	UTSW	4	152104340	missense	probably benign	0.14
R5790:Plekhg5	UTSW	4	152113935	missense	probably benign
R6770:Plekhg5	UTSW	4	152103079	missense	probably benign
R7027:Plekhg5	UTSW	4	152113974	missense	probably benign	0.01
R7039:Plekhg5	UTSW	4	152107785	missense	possibly damaging	0.90
R7092:Plekhg5	UTSW	4	152114508	missense	probably damaging	1.00
R7309:Plekhg5	UTSW	4	152112528	missense	possibly damaging	0.50
R7319:Plekhg5	UTSW	4	152108428	missense	probably benign	0.13
R7439:Plekhg5	UTSW	4	152113935	missense	probably benign	0.19
R7543:Plekhg5	UTSW	4	152108034	missense	probably damaging	1.00
R7662:Plekhg5	UTSW	4	152104298	missense	probably damaging	1.00
R8271:Plekhg5	UTSW	4	152103007	missense	probably damaging	1.00
R8322:Plekhg5	UTSW	4	152104744	missense	possibly damaging	0.77
R8827:Plekhg5	UTSW	4	152107005	splice site	probably benign
R8987:Plekhg5	UTSW	4	152103915	intron	probably benign
R9024:Plekhg5	UTSW	4	152112661	missense	possibly damaging	0.71
R9428:Plekhg5	UTSW	4	152108323	missense	probably benign	0.00
R9515:Plekhg5	UTSW	4	152114369	missense	probably benign	0.09
R9672:Plekhg5	UTSW	4	152103084	missense	probably benign	0.03

Posted On

2015-04-16