Mutagenetix > Incidental Mutation

Incidental Mutation 'R2962:Plekhg3'

255932

Institutional Source

Beutler Lab

Gene Symbol

Plekhg3

Ensembl Gene

ENSMUSG00000052609

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 3

Synonyms

MGC40768

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76580330-76627265 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 76619433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075249] [ENSMUST00000075249] [ENSMUST00000219063]

AlphaFold

Q4VAC9

Predicted Effect

probably null
Transcript: ENSMUST00000075249

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
RhoGEF	97	271	6.67e-51	SMART
PH	297	396	2.48e-9	SMART
coiled coil region	515	552	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	727	737	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC
low complexity region	978	993	N/A	INTRINSIC
low complexity region	1233	1246	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000075249

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
RhoGEF	97	271	6.67e-51	SMART
PH	297	396	2.48e-9	SMART
coiled coil region	515	552	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	727	737	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC
low complexity region	978	993	N/A	INTRINSIC
low complexity region	1233	1246	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218461

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219063
AA Change: V557I

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219426

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd24a	A	G	10: 43,455,313 (GRCm39)	T22A	probably benign	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,977,974 (GRCm39)		probably null	Het
Gm3371	A	T	14: 44,646,155 (GRCm39)	N103K	probably benign	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Hoxc10	A	G	15: 102,875,735 (GRCm39)	Y148C	probably damaging	Het
Jade1	C	G	3: 41,567,762 (GRCm39)	T610S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lhfpl7	T	C	5: 113,385,922 (GRCm39)	V123A	possibly damaging	Het
Malt1	A	G	18: 65,581,406 (GRCm39)	H278R	probably benign	Het
Mlxip	C	A	5: 123,578,887 (GRCm39)	R178S	probably damaging	Het
Or13a25	A	T	7: 140,247,862 (GRCm39)	M214L	probably benign	Het
Pdxk	A	G	10: 78,279,667 (GRCm39)	L236P	probably damaging	Het
Rufy2	G	T	10: 62,836,039 (GRCm39)	V323F	probably damaging	Het
Serpinb7	A	G	1: 107,379,456 (GRCm39)	T288A	probably benign	Het
Tet1	A	T	10: 62,650,323 (GRCm39)	C1628*	probably null	Het
Tgtp2	A	G	11: 48,950,363 (GRCm39)	S70P	probably damaging	Het
Trank1	C	T	9: 111,181,148 (GRCm39)	T390I	probably damaging	Het
Trim31	T	C	17: 37,210,796 (GRCm39)	S143P	probably damaging	Het
Ube3c	C	A	5: 29,863,416 (GRCm39)	A897D	possibly damaging	Het
Unc79	A	T	12: 103,061,378 (GRCm39)	T1050S	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76,609,052 (GRCm39)	missense	possibly damaging	0.78
IGL01143:Plekhg3	APN	12	76,611,756 (GRCm39)	critical splice donor site	probably null
IGL02079:Plekhg3	APN	12	76,607,203 (GRCm39)	missense	probably benign	0.01
IGL02349:Plekhg3	APN	12	76,609,074 (GRCm39)	missense	probably damaging	1.00
IGL02442:Plekhg3	APN	12	76,625,127 (GRCm39)	missense	probably benign	0.01
IGL02570:Plekhg3	APN	12	76,625,019 (GRCm39)	missense	probably benign
flagging	UTSW	12	76,607,294 (GRCm39)	critical splice donor site	probably null
R0667_Plekhg3_072	UTSW	12	76,623,372 (GRCm39)	missense	probably damaging	1.00
trailing	UTSW	12	76,611,735 (GRCm39)	missense	probably benign	0.15
R0344:Plekhg3	UTSW	12	76,613,040 (GRCm39)	nonsense	probably null
R0667:Plekhg3	UTSW	12	76,623,372 (GRCm39)	missense	probably damaging	1.00
R1269:Plekhg3	UTSW	12	76,607,243 (GRCm39)	missense	probably damaging	1.00
R1566:Plekhg3	UTSW	12	76,618,839 (GRCm39)	missense	possibly damaging	0.54
R1905:Plekhg3	UTSW	12	76,622,991 (GRCm39)	missense	probably benign	0.05
R2885:Plekhg3	UTSW	12	76,611,735 (GRCm39)	missense	probably benign	0.15
R3784:Plekhg3	UTSW	12	76,607,294 (GRCm39)	critical splice donor site	probably null
R3941:Plekhg3	UTSW	12	76,620,133 (GRCm39)	missense	probably damaging	0.98
R4056:Plekhg3	UTSW	12	76,612,021 (GRCm39)	missense	probably damaging	1.00
R4080:Plekhg3	UTSW	12	76,624,755 (GRCm39)	missense	probably benign	0.02
R4412:Plekhg3	UTSW	12	76,624,538 (GRCm39)	missense	probably damaging	0.96
R4413:Plekhg3	UTSW	12	76,624,538 (GRCm39)	missense	probably damaging	0.96
R4704:Plekhg3	UTSW	12	76,625,012 (GRCm39)	missense	probably damaging	1.00
R4720:Plekhg3	UTSW	12	76,625,096 (GRCm39)	missense	possibly damaging	0.59
R4738:Plekhg3	UTSW	12	76,623,688 (GRCm39)	missense	probably damaging	1.00
R4898:Plekhg3	UTSW	12	76,610,899 (GRCm39)	missense	probably damaging	1.00
R4994:Plekhg3	UTSW	12	76,612,311 (GRCm39)	missense	possibly damaging	0.68
R4999:Plekhg3	UTSW	12	76,612,021 (GRCm39)	missense	possibly damaging	0.95
R5484:Plekhg3	UTSW	12	76,625,174 (GRCm39)	missense	possibly damaging	0.76
R5591:Plekhg3	UTSW	12	76,607,066 (GRCm39)	missense	possibly damaging	0.80
R6019:Plekhg3	UTSW	12	76,624,715 (GRCm39)	nonsense	probably null
R6147:Plekhg3	UTSW	12	76,611,985 (GRCm39)	missense	probably damaging	0.96
R6272:Plekhg3	UTSW	12	76,623,619 (GRCm39)	missense	probably benign	0.00
R6482:Plekhg3	UTSW	12	76,622,778 (GRCm39)	missense	probably benign	0.01
R7081:Plekhg3	UTSW	12	76,625,019 (GRCm39)	missense	probably benign
R7349:Plekhg3	UTSW	12	76,611,339 (GRCm39)	missense	probably benign	0.45
R7439:Plekhg3	UTSW	12	76,623,259 (GRCm39)	missense	probably damaging	1.00
R7449:Plekhg3	UTSW	12	76,612,996 (GRCm39)	missense	probably damaging	0.98
R7879:Plekhg3	UTSW	12	76,612,343 (GRCm39)	missense	probably damaging	1.00
R8256:Plekhg3	UTSW	12	76,609,041 (GRCm39)	missense	probably damaging	0.98
R8298:Plekhg3	UTSW	12	76,623,852 (GRCm39)	missense	probably damaging	1.00
R8492:Plekhg3	UTSW	12	76,622,790 (GRCm39)	missense	probably benign
R8886:Plekhg3	UTSW	12	76,611,748 (GRCm39)	missense	possibly damaging	0.81
R9090:Plekhg3	UTSW	12	76,622,694 (GRCm39)	missense	probably benign
R9117:Plekhg3	UTSW	12	76,624,905 (GRCm39)	missense	probably benign
R9220:Plekhg3	UTSW	12	76,618,839 (GRCm39)	missense	probably benign	0.18
R9271:Plekhg3	UTSW	12	76,622,694 (GRCm39)	missense	probably benign
R9294:Plekhg3	UTSW	12	76,609,052 (GRCm39)	missense	possibly damaging	0.78
R9394:Plekhg3	UTSW	12	76,623,862 (GRCm39)	missense	probably damaging	0.99
R9468:Plekhg3	UTSW	12	76,607,009 (GRCm39)	missense	probably damaging	0.98
R9711:Plekhg3	UTSW	12	76,611,726 (GRCm39)	missense	possibly damaging	0.83
R9747:Plekhg3	UTSW	12	76,611,367 (GRCm39)	missense	probably damaging	1.00
X0062:Plekhg3	UTSW	12	76,620,117 (GRCm39)	missense	possibly damaging	0.89
Z1176:Plekhg3	UTSW	12	76,622,630 (GRCm39)	critical splice acceptor site	probably null
Z1177:Plekhg3	UTSW	12	76,625,102 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCCCTCTTGGACTTTG -3'
(R):5'- TGAGTTAAGTATTGACGGCAGG -3'

Sequencing Primer
(F):5'- CCCTCTTGGACTTTGGGCAG -3'
(R):5'- TTAAGTATTGACGGCAGGAAGGAG -3'

Posted On

2014-12-29