Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Plekhg5'

501778

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

038474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0233 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

152156955-152199857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152196676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 695 (C695R)

Ref Sequence

ENSEMBL: ENSMUSP00000112707 (fasta)

Gene Model

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

AlphaFold

Q66T02

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 damaging
Transcript: ENSMUST00000084115
AA Change: C708R

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

SMART Domains

Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: C708R

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: C708R

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

SMART Domains

Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: C708R

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: C676R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: C676R

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: C695R

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

SMART Domains

Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: C695R

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: ENSMUST00000142412

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,966,606 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,006,780 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Copa	T	C	1: 171,915,234 (GRCm39)		probably null	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,216 (GRCm39)	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fam13b	T	A	18: 34,581,137 (GRCm39)	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Foxp2	T	C	6: 15,409,752 (GRCm39)	S451P	probably damaging	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm9920	A	T	15: 54,975,857 (GRCm39)		probably benign	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,942,473 (GRCm39)	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,532,372 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,828,100 (GRCm39)		probably null	Het
Kpna2	T	C	11: 106,883,457 (GRCm39)	S111G	probably benign	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Macf1	G	A	4: 123,343,920 (GRCm39)		probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Parl	G	A	16: 20,106,657 (GRCm39)	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Prg4	T	C	1: 150,329,298 (GRCm39)		probably benign	Het
Prkab1	A	G	5: 116,159,711 (GRCm39)		probably benign	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Sulf2	T	C	2: 165,927,589 (GRCm39)		probably benign	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,248,398 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	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
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
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

Posted On

2017-12-01