Mutagenetix > Incidental Mutation

Incidental Mutation 'R9593:Plekhg2'

723096

Institutional Source

Beutler Lab

Gene Symbol

Plekhg2

Ensembl Gene

ENSMUSG00000037552

Gene Name

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

Synonyms

Clg

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28059029-28072024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28059710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1182 (D1182E)

Ref Sequence

ENSEMBL: ENSMUSP00000092228 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094644
AA Change: D1182E

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: D1182E

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

possibly damaging
Transcript: ENSMUST00000119990
AA Change: D1181E

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: D1181E

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

SMART Domains

Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: D1206E

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

probably benign
Transcript: ENSMUST00000144700

SMART Domains

Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,087 (GRCm39)	D146E	probably benign	Het
Acaca	C	T	11: 84,271,339 (GRCm39)	Q2058*	probably null	Het
Adam39	T	A	8: 41,279,744 (GRCm39)	C712S	possibly damaging	Het
Aipl1	T	C	11: 71,921,161 (GRCm39)	E219G	probably benign	Het
Ankrd24	A	G	10: 81,475,898 (GRCm39)	R301G	unknown	Het
Arhgef17	A	G	7: 100,532,009 (GRCm39)	F272L	probably damaging	Het
B3galt2	T	A	1: 143,522,604 (GRCm39)	Y247N	probably damaging	Het
Bltp1	T	C	3: 37,002,090 (GRCm39)	V1345A	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cat	T	C	2: 103,285,433 (GRCm39)	E503G	probably benign	Het
Cemip2	T	C	19: 21,803,453 (GRCm39)	S829P	probably damaging	Het
Coro1b	T	A	19: 4,199,497 (GRCm39)	V52E	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dip2c	T	A	13: 9,704,683 (GRCm39)	M1344K	possibly damaging	Het
Dnah5	A	G	15: 28,236,774 (GRCm39)	I367V	probably benign	Het
Dock2	T	C	11: 34,178,607 (GRCm39)	T1807A	probably benign	Het
Dusp10	T	A	1: 183,806,643 (GRCm39)	F459I	probably damaging	Het
Elac1	A	T	18: 73,872,089 (GRCm39)	L302Q	probably benign	Het
Entrep3	T	A	3: 89,091,199 (GRCm39)	S57T	probably benign	Het
Fdx2	A	T	9: 20,979,097 (GRCm39)	Y165N	probably damaging	Het
Gabra2	C	T	5: 71,165,353 (GRCm39)	V206I	possibly damaging	Het
Gabrg1	T	C	5: 70,939,808 (GRCm39)	E108G	probably damaging	Het
Gm29394	A	G	15: 57,932,722 (GRCm39)	L5P	probably benign	Het
Gnb1l	C	T	16: 18,362,914 (GRCm39)	P101S	probably benign	Het
Hectd4	C	A	5: 121,424,844 (GRCm39)	S749*	probably null	Het
Hmcn2	A	G	2: 31,244,742 (GRCm39)	Y733C	probably damaging	Het
Inafm1	G	A	7: 16,007,059 (GRCm39)	L53F	probably damaging	Het
Iqgap3	G	A	3: 88,011,657 (GRCm39)	R814H	probably damaging	Het
Map3k19	A	G	1: 127,778,163 (GRCm39)	C21R	probably benign	Het
Maz	A	G	7: 126,624,924 (GRCm39)	F199L	probably damaging	Het
Mis18bp1	A	G	12: 65,187,628 (GRCm39)	I825T	probably damaging	Het
Mpp3	T	A	11: 101,907,506 (GRCm39)	T211S	possibly damaging	Het
Mtrf1	T	C	14: 79,656,664 (GRCm39)	Y389H	probably damaging	Het
Myo3b	G	A	2: 70,075,648 (GRCm39)	G579R	probably benign	Het
Nlrp4e	T	C	7: 23,020,197 (GRCm39)	V228A	probably benign	Het
Npepps	T	A	11: 97,149,179 (GRCm39)		probably null	Het
Ntng1	A	G	3: 109,842,224 (GRCm39)	L183P	probably damaging	Het
Or8c16	A	G	9: 38,130,868 (GRCm39)	T247A	probably benign	Het
Pcdha4	A	C	18: 37,086,740 (GRCm39)	I308L	probably benign	Het
Pear1	G	T	3: 87,658,480 (GRCm39)	Q964K	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Ptpn13	T	A	5: 103,674,998 (GRCm39)	D658E	possibly damaging	Het
Ptprq	T	C	10: 107,524,254 (GRCm39)	Y493C	possibly damaging	Het
Rnd1	A	G	15: 98,570,526 (GRCm39)	W107R	probably damaging	Het
Scn5a	G	A	9: 119,315,839 (GRCm39)	T1623M	probably damaging	Het
Sec23b	T	C	2: 144,410,564 (GRCm39)	I288T	probably benign	Het
Slfn14	T	A	11: 83,174,733 (GRCm39)	H86L	probably benign	Het
Smchd1	G	A	17: 71,701,828 (GRCm39)	H1055Y	probably damaging	Het
Sox13	G	A	1: 133,316,214 (GRCm39)	P243S	probably damaging	Het
St3gal6	C	A	16: 58,305,136 (GRCm39)	E109*	probably null	Het
Traf4	T	C	11: 78,056,253 (GRCm39)	D5G	possibly damaging	Het
Trank1	G	T	9: 111,191,365 (GRCm39)	C458F	probably benign	Het
Ttc41	T	C	10: 86,549,049 (GRCm39)	F81S	probably benign	Het
Tulp1	C	T	17: 28,572,802 (GRCm39)	W451*	probably null	Het
Tyms	T	C	5: 30,269,110 (GRCm39)	I171V		Het
Vmn2r115	T	A	17: 23,578,184 (GRCm39)	N552K	probably damaging	Het
Zfp710	T	A	7: 79,730,909 (GRCm39)	S29T	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
IGL02892:Plekhg2	APN	7	28,062,342 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGGCTGATGTATGAAGCTG -3'
(R):5'- AGCTGCAAGGCCTTACAGAC -3'

Sequencing Primer
(F):5'- TGTATGAAGCTGCCAGGTACC -3'
(R):5'- AGGCCTTACAGACACCAGGG -3'

Posted On

2022-08-09