Mutagenetix > Incidental Mutation

Incidental Mutation 'R8886:Plekhg3'

677348

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

MMRRC Submission

068691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76580330-76627265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76611748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 342 (H342Q)

Ref Sequence

ENSEMBL: ENSMUSP00000074729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075249] [ENSMUST00000217730] [ENSMUST00000218380] [ENSMUST00000219063] [ENSMUST00000219751]

AlphaFold

Q4VAC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075249
AA Change: H342Q

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: H342Q

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 benign
Transcript: ENSMUST00000217730

Predicted Effect

probably benign
Transcript: ENSMUST00000218380

Predicted Effect

probably damaging
Transcript: ENSMUST00000219063
AA Change: H342Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000219751

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,882,349 (GRCm39)	N14I	possibly damaging	Het
1700066M21Rik	T	A	1: 57,422,008 (GRCm39)	I128N	probably damaging	Het
4930407I10Rik	G	T	15: 81,950,051 (GRCm39)	S1316I	probably damaging	Het
Abcc9	T	C	6: 142,546,420 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,150,928 (GRCm39)	S1102P	probably damaging	Het
BC061237	A	C	14: 44,741,691 (GRCm39)	I145L	probably benign	Het
Birc7	A	T	2: 180,574,786 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,319,806 (GRCm39)	G393S		Het
Ccdc112	C	T	18: 46,444,826 (GRCm39)	G18R	unknown	Het
Cryzl1	T	A	16: 91,492,188 (GRCm39)	T213S	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Cyp4v3	A	T	8: 45,774,785 (GRCm39)	L123*	probably null	Het
Dmpk	C	A	7: 18,825,886 (GRCm39)		probably benign	Het
Dnah9	A	T	11: 65,943,840 (GRCm39)	V1932E	probably damaging	Het
Ect2	T	C	3: 27,200,126 (GRCm39)		probably benign	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Fkbp10	A	G	11: 100,312,862 (GRCm39)	E336G	probably damaging	Het
Gnptg	T	C	17: 25,453,628 (GRCm39)	S305G	probably benign	Het
Greb1l	A	T	18: 10,553,843 (GRCm39)	I1615F	probably benign	Het
Gse1	G	A	8: 121,297,470 (GRCm39)	R561Q	unknown	Het
Igkv9-129	T	A	6: 67,817,221 (GRCm39)	Y108*	probably null	Het
Igsf10	T	A	3: 59,237,410 (GRCm39)	T924S	probably benign	Het
Itgb6	A	T	2: 60,458,324 (GRCm39)	C476*	probably null	Het
Itih4	C	T	14: 30,617,482 (GRCm39)	Q601*	probably null	Het
Itpk1	G	A	12: 102,550,604 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jakmip3	G	A	7: 138,609,171 (GRCm39)	E92K	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Klk1b5	T	A	7: 43,869,192 (GRCm39)	M122K	probably damaging	Het
Krt84	A	G	15: 101,437,221 (GRCm39)	I314T	possibly damaging	Het
Lama2	A	T	10: 27,245,157 (GRCm39)		probably benign	Het
Lmntd1	T	C	6: 145,363,152 (GRCm39)	T270A	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh11	A	G	16: 14,052,278 (GRCm39)	I396T		Het
Naprt	T	C	15: 75,765,433 (GRCm39)	T136A	probably damaging	Het
Nbea	T	C	3: 55,966,148 (GRCm39)	N438S	probably damaging	Het
Nckap1	C	A	2: 80,339,055 (GRCm39)		probably null	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nts	C	T	10: 102,320,868 (GRCm39)	A74T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or8b49	T	G	9: 38,506,446 (GRCm39)	F310V	possibly damaging	Het
Pcp2	A	G	8: 3,675,208 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,343,734 (GRCm39)	S752P	probably benign	Het
Pign	C	T	1: 105,512,779 (GRCm39)	V635I	probably benign	Het
Ppp4c	A	T	7: 126,386,466 (GRCm39)	I177N	probably damaging	Het
Psmd5	A	G	2: 34,747,755 (GRCm39)	F301L	possibly damaging	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rbm20	A	T	19: 53,801,767 (GRCm39)	I92L	probably benign	Het
Rnf213	A	G	11: 119,364,264 (GRCm39)	D4522G		Het
Robo3	T	C	9: 37,328,768 (GRCm39)	E1276G	probably damaging	Het
Rxrb	T	C	17: 34,256,428 (GRCm39)	F500L	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Scd3	A	G	19: 44,230,276 (GRCm39)	D353G	probably damaging	Het
Sh2d4b	T	C	14: 40,595,946 (GRCm39)		probably benign	Het
Ski	A	T	4: 155,244,016 (GRCm39)	L498Q	probably null	Het
Spocd1	T	A	4: 129,845,631 (GRCm39)	M497K		Het
Sspo	A	G	6: 48,458,201 (GRCm39)	E3299G	possibly damaging	Het
St14	C	A	9: 31,008,420 (GRCm39)	V507F	possibly damaging	Het
Tcf24	G	A	1: 10,037,388 (GRCm39)	T108I	probably benign	Het
Tecta	T	C	9: 42,278,359 (GRCm39)	T1050A	probably benign	Het
Ttc17	T	C	2: 94,205,473 (GRCm39)	D291G	probably benign	Het
Tubgcp2	G	T	7: 139,584,882 (GRCm39)	R518S	probably benign	Het
Ugt2a3	T	C	5: 87,484,358 (GRCm39)	Y222C	probably damaging	Het
Unc5c	C	G	3: 141,509,581 (GRCm39)	A687G	probably benign	Het
Usp42	T	C	5: 143,700,714 (GRCm39)	D1103G	probably damaging	Het
Vmn1r83	A	C	7: 12,055,843 (GRCm39)	D71E	probably benign	Het
Vmn2r3	T	A	3: 64,194,892 (GRCm39)	I9F	possibly damaging	Het
Zfand1	T	C	3: 10,409,862 (GRCm39)	Q160R	probably null	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably damaging	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
R2962:Plekhg3	UTSW	12	76,619,433 (GRCm39)	critical splice donor site	probably null
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
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'- AGGAGATCCAGTCACTGCTC -3'
(R):5'- AGTCTCTGGTGCTTTCGATC -3'

Sequencing Primer
(F):5'- CAGTCACTGCTCATTAACTGGAAGG -3'
(R):5'- CTTTCGATCAGCATCAGTGAGGAG -3'

Posted On

2021-08-02