Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Plekhg5'

34254

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

038553-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152072498-152115400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152114253 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 966 (L966P)

Ref Sequence

ENSEMBL: ENSMUSP00000101286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025706] [ENSMUST00000035275] [ENSMUST00000084115] [ENSMUST00000105661] [ENSMUST00000105662] [ENSMUST00000118648]

Predicted Effect

probably benign
Transcript: ENSMUST00000025706

SMART Domains

Protein: ENSMUSP00000025706
Gene: ENSMUSG00000024793

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
TNFR	38	75	4.12e0	SMART
TNFR	78	120	3.78e-5	SMART
transmembrane domain	196	218	N/A	INTRINSIC
DEATH	315	407	6.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035275

SMART Domains

Protein: ENSMUSP00000047823
Gene: ENSMUSG00000024793

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
TNFR	51	88	4.12e0	SMART
TNFR	91	133	3.78e-5	SMART
transmembrane domain	172	194	N/A	INTRINSIC
DEATH	291	383	6.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084115
AA Change: L966P

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: L966P

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: L966P

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: L966P

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: L934P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: L934P

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: L953P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: L953P

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: ENSMUST00000127111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153619

Meta Mutation Damage Score

0.0979

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	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
IGL02701:Plekhg5	APN	4	152103022	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGACTTTGTGGCTCCACACCC -3'
(R):5'- TCCCAGAAGGCATCTCTCTGCATC -3'

Sequencing Primer
(F):5'- CGCCTGTGCCTCAGACC -3'
(R):5'- CATCTCCTTCGGGCAGAATC -3'

Posted On

2013-05-09