Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Plekhg5'

45452

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

038747-MU

Accession Numbers

Essential gene?

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

Stock #

R0555 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

152156955-152199857 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 152191926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 421 (C421*)

Ref Sequence

ENSEMBL: ENSMUSP00000112707 (fasta)

Gene Model

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

AlphaFold

Q66T02

Predicted Effect

probably null
Transcript: ENSMUST00000084115
AA Change: C434*

SMART Domains

Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: C434*

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 null
Transcript: ENSMUST00000105661
AA Change: C434*

SMART Domains

Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: C434*

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 null
Transcript: ENSMUST00000105662
AA Change: C402*

SMART Domains

Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: C402*

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 null
Transcript: ENSMUST00000118648
AA Change: C421*

SMART Domains

Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: C421*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,661,516 (GRCm39)	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,670 (GRCm39)		probably benign	Het
Asap1	A	G	15: 63,966,213 (GRCm39)	L941P	probably damaging	Het
Aurka	G	A	2: 172,209,067 (GRCm39)	R23C	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381 (GRCm39)	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,293,503 (GRCm39)	A418T	possibly damaging	Het
Cplx3	T	C	9: 57,521,384 (GRCm39)	T193A	probably benign	Het
Cpxm2	A	T	7: 131,645,772 (GRCm39)	Y715*	probably null	Het
Csmd1	T	C	8: 16,235,287 (GRCm39)	M1179V	probably benign	Het
Ddx21	A	T	10: 62,423,307 (GRCm39)	F632I	probably damaging	Het
Dnai1	C	A	4: 41,625,335 (GRCm39)	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,225,191 (GRCm39)	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,044,862 (GRCm39)		probably null	Het
Dync1li2	A	T	8: 105,147,297 (GRCm39)	S466T	probably benign	Het
Ears2	T	C	7: 121,647,667 (GRCm39)	T206A	probably benign	Het
Elmod1	A	T	9: 53,838,876 (GRCm39)		probably benign	Het
Eps8l3	C	A	3: 107,799,661 (GRCm39)	D590E	probably benign	Het
Etfdh	A	T	3: 79,513,112 (GRCm39)	H370Q	probably benign	Het
Fam83g	C	A	11: 61,598,489 (GRCm39)	A792E	probably benign	Het
Ffar3	G	T	7: 30,554,962 (GRCm39)	Y119*	probably null	Het
Fosb	G	T	7: 19,041,138 (GRCm39)	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,401,175 (GRCm39)	L3F	probably damaging	Het
Foxo4	A	G	X: 100,298,784 (GRCm39)	K65E	probably damaging	Het
Frem2	A	G	3: 53,424,281 (GRCm39)	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,498,149 (GRCm39)	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927 (GRCm39)	G429C	probably damaging	Het
Gimap1	T	C	6: 48,718,363 (GRCm39)		probably benign	Het
Gnas	A	G	2: 174,140,304 (GRCm39)	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,789,740 (GRCm39)	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781 (GRCm39)		probably benign	Het
H2-M10.5	G	A	17: 37,085,620 (GRCm39)	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,225,222 (GRCm39)	Q412H	probably benign	Het
Hecw1	G	T	13: 14,411,526 (GRCm39)	T1058N	probably damaging	Het
Heph	A	T	X: 95,601,690 (GRCm39)	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,034,514 (GRCm39)	E53A	possibly damaging	Het
Insrr	T	G	3: 87,721,744 (GRCm39)		probably benign	Het
Ipo11	A	T	13: 107,028,969 (GRCm39)	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,276,217 (GRCm39)	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,061,568 (GRCm39)	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,758,868 (GRCm39)	S1027C	probably damaging	Het
Kprp	G	C	3: 92,731,664 (GRCm39)	P462R	unknown	Het
Lrit3	A	T	3: 129,584,945 (GRCm39)	V271D	probably damaging	Het
Map4	T	A	9: 109,808,171 (GRCm39)		probably benign	Het
Mark4	A	C	7: 19,182,598 (GRCm39)		probably benign	Het
Mfsd14b	A	G	13: 65,226,259 (GRCm39)	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,208,227 (GRCm39)	I162N	possibly damaging	Het
Mrpl43	A	T	19: 44,994,391 (GRCm39)		probably benign	Het
Mrpl47	A	G	3: 32,790,842 (GRCm39)	F16S	probably benign	Het
Myh2	G	T	11: 67,069,793 (GRCm39)	G380C	probably damaging	Het
Myo15a	T	C	11: 60,412,464 (GRCm39)	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,467,148 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,390 (GRCm39)	V111A	probably damaging	Het
Nol4l	T	C	2: 153,259,604 (GRCm39)		probably null	Het
Nphp3	C	A	9: 103,900,633 (GRCm39)	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,183,118 (GRCm39)		probably null	Het
Or14c39	A	G	7: 86,344,516 (GRCm39)	N284S	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or52ab7	T	C	7: 102,978,170 (GRCm39)	V159A	probably benign	Het
Or6c2	T	C	10: 129,362,765 (GRCm39)	I223T	possibly damaging	Het
Pex1	A	G	5: 3,656,130 (GRCm39)	E319G	possibly damaging	Het
Pgap6	T	C	17: 26,336,088 (GRCm39)	L130S	probably benign	Het
Phtf1	C	A	3: 103,911,785 (GRCm39)	T709K	probably damaging	Het
Plek2	A	T	12: 78,938,946 (GRCm39)	L271Q	probably damaging	Het
Polk	A	C	13: 96,620,687 (GRCm39)	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,328,381 (GRCm39)	S471P	probably damaging	Het
Prickle2	A	T	6: 92,435,546 (GRCm39)	F74L	probably benign	Het
Prl7d1	A	T	13: 27,896,038 (GRCm39)	V113D	probably benign	Het
Prr14	C	T	7: 127,071,267 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ret	A	G	6: 118,155,571 (GRCm39)	V375A	probably damaging	Het
Rora	T	C	9: 69,269,028 (GRCm39)	F41S	probably damaging	Het
Sall1	T	C	8: 89,758,386 (GRCm39)	T573A	probably benign	Het
Shb	A	G	4: 45,458,321 (GRCm39)	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,569,391 (GRCm39)		probably null	Het
Sltm	T	C	9: 70,493,363 (GRCm39)	F769L	probably damaging	Het
Snx9	T	A	17: 5,968,688 (GRCm39)	M328K	probably damaging	Het
Stk25	G	T	1: 93,552,313 (GRCm39)	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858 (GRCm39)	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,016,169 (GRCm39)	A195T	probably damaging	Het
Tmem217b	A	T	17: 29,738,545 (GRCm39)	F74I	probably benign	Het
Trcg1	C	T	9: 57,149,616 (GRCm39)	T396M	probably damaging	Het
Trim30b	A	G	7: 104,006,505 (GRCm39)	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,209,511 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,727,439 (GRCm39)	H827R	probably damaging	Het
Tut7	A	G	13: 59,948,131 (GRCm39)	V328A	probably benign	Het
Urgcp	T	C	11: 5,667,477 (GRCm39)	E287G	probably damaging	Het
Usp2	G	T	9: 44,004,081 (GRCm39)	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,204,512 (GRCm39)	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,442 (GRCm39)	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,577,952 (GRCm39)	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,129,283 (GRCm39)	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,670,818 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,807,194 (GRCm39)	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,653,028 (GRCm39)		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
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

PCR Primer
(F):5'- CCTTCTGATGGAACAAGTCAGCCTC -3'
(R):5'- GTGTAGCTTGGCGATCTCAGGAATG -3'

Sequencing Primer
(F):5'- GGAACAAGTCAGCCTCTCTCAG -3'
(R):5'- CGATCTCAGGAATGTTGCTGAAC -3'

Posted On

2013-06-11