Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Plekhg2'

478641

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

044191-MU

Accession Numbers

Essential gene?

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

Stock #

R6017 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

28059029-28072024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28062309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 536 (T536I)

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: T537I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: T537I

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: T536I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: T536I

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: T561I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: T561I

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: T536I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: T536I

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

Meta Mutation Damage Score

0.1607

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CTGGGGAACTTGGGAATGTC -3'
(R):5'- TGACTTACTTAGTGTGCAAGAGG -3'

Sequencing Primer
(F):5'- GGCTGGCTATAGTGGGCAC -3'
(R):5'- TTACTTAGTGTGCAAGAGGGGAGC -3'

Posted On

2017-06-26