Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02892:Plekhg2'

363255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhg2

Ensembl Gene

ENSMUSG00000037552

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 2

Synonyms

Clg

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

IGL02892

Quality Score

Status

Chromosome

Chromosomal Location

28059029-28072024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28062342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 525 (D525V)

Ref Sequence

ENSEMBL: ENSMUSP00000115651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094644] [ENSMUST00000119990] [ENSMUST00000121085] [ENSMUST00000144700]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094644
AA Change: D526V

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

SMART Domains

Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: D526V

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
low complexity region	46	63	N/A	INTRINSIC
low complexity region	73	88	N/A	INTRINSIC
RhoGEF	103	279	3.98e-49	SMART
PH	305	410	3.01e-8	SMART
low complexity region	463	481	N/A	INTRINSIC
low complexity region	582	605	N/A	INTRINSIC
low complexity region	842	856	N/A	INTRINSIC
low complexity region	1232	1246	N/A	INTRINSIC
low complexity region	1268	1292	N/A	INTRINSIC
low complexity region	1320	1334	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119990
AA Change: D525V

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

SMART Domains

Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: D525V

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC
low complexity region	72	87	N/A	INTRINSIC
RhoGEF	102	278	3.98e-49	SMART
PH	304	409	3.01e-8	SMART
low complexity region	462	480	N/A	INTRINSIC
low complexity region	581	604	N/A	INTRINSIC
low complexity region	841	855	N/A	INTRINSIC
low complexity region	1231	1245	N/A	INTRINSIC
low complexity region	1267	1291	N/A	INTRINSIC
low complexity region	1319	1333	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121085
AA Change: D550V

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

SMART Domains

Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: D550V

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC
low complexity region	72	87	N/A	INTRINSIC
RhoGEF	102	278	3.98e-49	SMART
PH	304	409	3.01e-8	SMART
low complexity region	462	479	N/A	INTRINSIC
low complexity region	606	629	N/A	INTRINSIC
low complexity region	866	880	N/A	INTRINSIC
low complexity region	1256	1270	N/A	INTRINSIC
low complexity region	1292	1316	N/A	INTRINSIC
low complexity region	1344	1358	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129145

Predicted Effect

probably damaging
Transcript: ENSMUST00000144700
AA Change: D525V

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

SMART Domains

Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: D525V

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC
low complexity region	72	87	N/A	INTRINSIC
RhoGEF	102	278	3.98e-49	SMART
PH	304	409	3.01e-8	SMART
low complexity region	462	480	N/A	INTRINSIC
low complexity region	581	604	N/A	INTRINSIC
low complexity region	841	855	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147767

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,651,771 (GRCm39)	L493*	probably null	Het
Adam32	T	A	8: 25,368,727 (GRCm39)		probably benign	Het
Alpk1	T	C	3: 127,473,771 (GRCm39)	D744G	possibly damaging	Het
Arhgef12	A	G	9: 42,912,268 (GRCm39)	V530A	possibly damaging	Het
Baz2b	A	T	2: 59,731,080 (GRCm39)	N2095K	probably damaging	Het
Btnl2	A	T	17: 34,581,642 (GRCm39)	Q240L	possibly damaging	Het
Cd96	T	C	16: 45,870,160 (GRCm39)		probably null	Het
Cep350	G	A	1: 155,744,552 (GRCm39)	T2089I	possibly damaging	Het
Chd9	T	C	8: 91,703,543 (GRCm39)		probably benign	Het
Cib4	C	T	5: 30,702,051 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,336,970 (GRCm39)	T280A	probably benign	Het
Coq5	T	A	5: 115,432,876 (GRCm39)		probably benign	Het
Cyth3	A	G	5: 143,693,192 (GRCm39)	I339V	possibly damaging	Het
Dcaf7	T	C	11: 105,937,518 (GRCm39)	V47A	possibly damaging	Het
Dcdc2c	A	G	12: 28,585,544 (GRCm39)	I151T	probably benign	Het
Defb7	T	A	8: 19,547,678 (GRCm39)	F61Y	probably benign	Het
Diaph3	T	A	14: 87,104,066 (GRCm39)	K773*	probably null	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnah7b	G	A	1: 46,158,458 (GRCm39)	R347H	possibly damaging	Het
Egflam	C	T	15: 7,319,277 (GRCm39)	V234I	probably benign	Het
Emilin3	C	T	2: 160,751,069 (GRCm39)	V180M	possibly damaging	Het
Fam76b	A	T	9: 13,740,117 (GRCm39)	E50V	probably null	Het
Fat3	A	T	9: 16,288,858 (GRCm39)	Y222N	probably damaging	Het
Grm7	A	G	6: 111,230,981 (GRCm39)	N468S	probably damaging	Het
Gucy1a2	G	T	9: 3,634,471 (GRCm39)	G172C	probably damaging	Het
Hmcn1	A	C	1: 150,551,725 (GRCm39)		probably null	Het
Hydin	G	A	8: 111,325,591 (GRCm39)	V4667M	possibly damaging	Het
Idh2	T	C	7: 79,745,418 (GRCm39)	S408G	probably benign	Het
Kcng4	T	C	8: 120,359,821 (GRCm39)	Q185R	probably benign	Het
Lamp3	A	G	16: 19,494,802 (GRCm39)	V301A	probably damaging	Het
Lrrc23	T	C	6: 124,751,399 (GRCm39)	N220S	probably benign	Het
Lrrc41	T	A	4: 115,946,032 (GRCm39)	M249K	possibly damaging	Het
Ltbp4	T	A	7: 27,010,074 (GRCm39)	D1162V	probably damaging	Het
Mlh1	T	C	9: 111,082,037 (GRCm39)	I229V	probably benign	Het
Or1o11	T	C	17: 37,756,925 (GRCm39)	L160P	probably damaging	Het
Pgap6	A	G	17: 26,338,094 (GRCm39)	Y466C	probably damaging	Het
Plin4	T	C	17: 56,412,108 (GRCm39)	K641R	probably damaging	Het
Plxnb2	A	G	15: 89,045,425 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,908,680 (GRCm39)	S502P	possibly damaging	Het
Prss16	A	G	13: 22,187,220 (GRCm39)	V450A	probably benign	Het
Prss42	G	A	9: 110,628,458 (GRCm39)	V201M	probably damaging	Het
Pus7	A	T	5: 23,959,554 (GRCm39)	N322K	probably damaging	Het
Riok1	G	T	13: 38,224,041 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,984,561 (GRCm39)	T64S	probably benign	Het
Rmnd5a	T	A	6: 71,391,798 (GRCm39)	M131L	probably benign	Het
Rtbdn	C	T	8: 85,681,718 (GRCm39)	R170C	probably damaging	Het
Sesn3	T	C	9: 14,226,030 (GRCm39)		probably null	Het
Slc2a6	A	G	2: 26,914,305 (GRCm39)	Y271H	probably benign	Het
Slc5a5	T	G	8: 71,345,161 (GRCm39)	T49P	probably damaging	Het
Slc7a10	T	C	7: 34,894,593 (GRCm39)	V84A	possibly damaging	Het
Slc9a4	A	G	1: 40,623,204 (GRCm39)	T148A	possibly damaging	Het
Smg1	T	A	7: 117,767,178 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,339,660 (GRCm39)	V266E	probably damaging	Het
Synm	T	A	7: 67,384,804 (GRCm39)	I511F	probably damaging	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,343,479 (GRCm39)	D128V	probably damaging	Het
Timeless	T	C	10: 128,080,120 (GRCm39)	L423P	probably damaging	Het
Tln1	A	G	4: 43,555,679 (GRCm39)	L145P	probably damaging	Het
Trp53i13	A	T	11: 77,399,121 (GRCm39)	D376E	probably damaging	Het
Ubr4	A	T	4: 139,144,642 (GRCm39)	I1484F	probably damaging	Het
Unc13a	C	T	8: 72,102,554 (GRCm39)	V943M	probably damaging	Het
Usp50	T	C	2: 126,611,822 (GRCm39)	K301R	probably damaging	Het
Vmn1r62	G	T	7: 5,679,202 (GRCm39)	M294I	probably benign	Het
Vps39	A	G	2: 120,153,652 (GRCm39)		probably benign	Het
Vwa8	T	A	14: 79,341,140 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,096,438 (GRCm39)	W748R	possibly damaging	Het

Other mutations in Plekhg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Plekhg2	APN	7	28,060,294 (GRCm39)	nonsense	probably null
IGL00933:Plekhg2	APN	7	28,060,114 (GRCm39)	missense	probably benign	0.01
IGL02037:Plekhg2	APN	7	28,068,122 (GRCm39)	missense	probably damaging	1.00
IGL02103:Plekhg2	APN	7	28,059,501 (GRCm39)	missense	probably damaging	1.00
IGL02598:Plekhg2	APN	7	28,059,900 (GRCm39)	missense	possibly damaging	0.55
IGL03249:Plekhg2	APN	7	28,067,427 (GRCm39)	missense	probably damaging	1.00
R0561:Plekhg2	UTSW	7	28,069,908 (GRCm39)	missense	probably benign
R1134:Plekhg2	UTSW	7	28,061,426 (GRCm39)	missense	probably damaging	0.99
R1619:Plekhg2	UTSW	7	28,067,846 (GRCm39)	missense	probably damaging	1.00
R2225:Plekhg2	UTSW	7	28,059,760 (GRCm39)	missense	probably benign	0.02
R4043:Plekhg2	UTSW	7	28,064,144 (GRCm39)	unclassified	probably benign
R4117:Plekhg2	UTSW	7	28,060,313 (GRCm39)	missense	probably benign	0.02
R4296:Plekhg2	UTSW	7	28,070,591 (GRCm39)	missense	probably damaging	1.00
R4956:Plekhg2	UTSW	7	28,067,780 (GRCm39)	missense	probably damaging	1.00
R5376:Plekhg2	UTSW	7	28,062,094 (GRCm39)	missense	probably damaging	0.99
R5378:Plekhg2	UTSW	7	28,062,094 (GRCm39)	missense	probably damaging	0.99
R5523:Plekhg2	UTSW	7	28,069,856 (GRCm39)	missense	probably damaging	1.00
R5545:Plekhg2	UTSW	7	28,061,886 (GRCm39)	missense	probably damaging	1.00
R5667:Plekhg2	UTSW	7	28,067,064 (GRCm39)	missense	probably damaging	1.00
R5913:Plekhg2	UTSW	7	28,064,027 (GRCm39)	missense	probably damaging	0.99
R6017:Plekhg2	UTSW	7	28,062,309 (GRCm39)	missense	probably damaging	0.97
R6088:Plekhg2	UTSW	7	28,060,438 (GRCm39)	missense	probably benign	0.01
R6912:Plekhg2	UTSW	7	28,059,684 (GRCm39)	missense	probably benign	0.39
R7258:Plekhg2	UTSW	7	28,064,203 (GRCm39)	missense	probably benign	0.00
R7530:Plekhg2	UTSW	7	28,061,353 (GRCm39)	missense	probably damaging	1.00
R8054:Plekhg2	UTSW	7	28,064,741 (GRCm39)	missense	probably damaging	0.96
R8217:Plekhg2	UTSW	7	28,067,717 (GRCm39)	missense	probably null	1.00
R8441:Plekhg2	UTSW	7	28,060,291 (GRCm39)	missense	probably benign	0.34
R8855:Plekhg2	UTSW	7	28,069,526 (GRCm39)	missense	probably benign	0.25
R8877:Plekhg2	UTSW	7	28,060,278 (GRCm39)	missense	possibly damaging	0.74
R9234:Plekhg2	UTSW	7	28,064,215 (GRCm39)	missense	probably benign	0.21
R9464:Plekhg2	UTSW	7	28,062,297 (GRCm39)	missense	probably damaging	1.00
R9561:Plekhg2	UTSW	7	28,064,249 (GRCm39)	missense	probably damaging	0.96
R9593:Plekhg2	UTSW	7	28,059,710 (GRCm39)	missense	possibly damaging	0.56
R9773:Plekhg2	UTSW	7	28,069,743 (GRCm39)	missense	probably damaging	0.96
RF051:Plekhg2	UTSW	7	28,061,777 (GRCm39)	frame shift	probably null
Z1186:Plekhg2	UTSW	7	28,070,727 (GRCm39)	intron	probably benign
Z1186:Plekhg2	UTSW	7	28,062,360 (GRCm39)	missense	possibly damaging	0.77

Posted On

2015-12-18