Mutagenetix > Incidental Mutation

Incidental Mutation 'R1566:Plekhg3'

175289

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

039605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76580330-76627265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76618839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 497 (M497T)

Ref Sequence

ENSEMBL: ENSMUSP00000074729 (fasta)

Gene Model

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

AlphaFold

Q4VAC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075249
AA Change: M497T

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: M497T

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

probably benign
Transcript: ENSMUST00000219063
AA Change: M467T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219426

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,679,632 (GRCm39)	I247F	probably benign	Het
Afap1l1	T	C	18: 61,888,714 (GRCm39)	N119S	probably benign	Het
Ap2a1	T	C	7: 44,552,904 (GRCm39)	D721G	probably benign	Het
Ap3m2	C	T	8: 23,293,967 (GRCm39)	V28M	probably damaging	Het
Arhgef7	A	G	8: 11,832,620 (GRCm39)	T32A	possibly damaging	Het
Avl9	C	T	6: 56,713,467 (GRCm39)	R242*	probably null	Het
Bsn	G	A	9: 108,003,184 (GRCm39)	T407I	probably benign	Het
Capn3	A	T	2: 120,333,474 (GRCm39)	R627S	possibly damaging	Het
Car13	G	A	3: 14,715,758 (GRCm39)	R92Q	probably benign	Het
Clcn1	T	C	6: 42,268,374 (GRCm39)	I149T	possibly damaging	Het
Col1a2	G	T	6: 4,523,613 (GRCm39)	G514V	probably damaging	Het
Ctsw	C	A	19: 5,515,445 (GRCm39)	C347F	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Eif1ad8	A	T	12: 87,564,001 (GRCm39)	H112L	probably benign	Het
Eml1	T	A	12: 108,438,151 (GRCm39)	V97D	probably damaging	Het
Epb41l1	A	G	2: 156,363,879 (GRCm39)	E796G	probably benign	Het
Gdnf	A	G	15: 7,863,895 (GRCm39)	K102R	probably benign	Het
Gm1110	T	C	9: 26,792,166 (GRCm39)	E618G	probably damaging	Het
Gmnc	T	C	16: 26,782,689 (GRCm39)	D22G	probably damaging	Het
Greb1	T	C	12: 16,761,829 (GRCm39)	D517G	possibly damaging	Het
Gsta1	A	T	9: 78,149,741 (GRCm39)	K185*	probably null	Het
Ift88	A	G	14: 57,678,468 (GRCm39)	D160G	probably benign	Het
Intu	T	A	3: 40,647,008 (GRCm39)	I627N	probably damaging	Het
Itgav	T	A	2: 83,566,974 (GRCm39)	F101L	probably damaging	Het
Kars1	C	T	8: 112,724,290 (GRCm39)	V475I	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Klra7	A	G	6: 130,208,564 (GRCm39)	V6A	probably damaging	Het
Krtap6-2	A	G	16: 89,216,626 (GRCm39)	S114P	unknown	Het
Ldlrad4	T	C	18: 68,383,669 (GRCm39)	S122P	probably benign	Het
Lig4	C	A	8: 10,023,650 (GRCm39)	L43F	probably benign	Het
Mfsd4a	T	C	1: 131,986,917 (GRCm39)	D137G	probably damaging	Het
Mmel1	C	T	4: 154,968,110 (GRCm39)	R149C	probably damaging	Het
Morc2b	T	A	17: 33,355,948 (GRCm39)	H608L	probably benign	Het
Mrgpra6	G	A	7: 46,838,652 (GRCm39)	T182I	probably benign	Het
Nat8l	C	A	5: 34,158,200 (GRCm39)	N203K	probably benign	Het
Nin	A	T	12: 70,101,253 (GRCm39)	V448E	probably damaging	Het
Or10a4	T	G	7: 106,696,759 (GRCm39)	F29C	probably damaging	Het
Or2m12	T	A	16: 19,105,077 (GRCm39)	M139L	possibly damaging	Het
Or5k15	T	A	16: 58,709,903 (GRCm39)	I227F	probably damaging	Het
Or8k21	G	A	2: 86,145,129 (GRCm39)	T167I	probably benign	Het
Pank4	T	C	4: 155,064,978 (GRCm39)	L759P	probably damaging	Het
Pcm1	T	A	8: 41,743,810 (GRCm39)	N1152K	probably damaging	Het
Pitpnm3	A	T	11: 71,949,785 (GRCm39)		probably null	Het
Ppfia3	T	C	7: 44,990,112 (GRCm39)	D1138G	probably damaging	Het
Prl6a1	T	A	13: 27,499,410 (GRCm39)	S59R	possibly damaging	Het
Pth2r	A	G	1: 65,427,697 (GRCm39)	S457G	possibly damaging	Het
Rbm25	T	A	12: 83,721,828 (GRCm39)	N671K	probably damaging	Het
Rbm26	T	A	14: 105,397,980 (GRCm39)	K47N	unknown	Het
Ryr1	T	A	7: 28,791,600 (GRCm39)	I1435F	possibly damaging	Het
Scin	T	A	12: 40,131,673 (GRCm39)	H287L	probably benign	Het
Serpinb9e	T	C	13: 33,437,477 (GRCm39)	L120P	probably damaging	Het
Slc34a1	A	C	13: 55,559,844 (GRCm39)		probably null	Het
Slc39a10	A	G	1: 46,875,245 (GRCm39)	F19S	possibly damaging	Het
Sos1	A	G	17: 80,761,345 (GRCm39)	V117A	probably damaging	Het
Spta1	C	A	1: 174,012,272 (GRCm39)	N359K	probably benign	Het
Sspo	G	A	6: 48,443,804 (GRCm39)		probably null	Het
Stx5a	T	A	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Supt16	G	A	14: 52,414,112 (GRCm39)	A489V	probably damaging	Het
Tap1	T	A	17: 34,408,520 (GRCm39)	L253Q	probably benign	Het
Tmc6	A	G	11: 117,660,262 (GRCm39)	S659P	probably damaging	Het
Tnfsf14	T	C	17: 57,500,876 (GRCm39)	D65G	probably benign	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ugt8a	T	C	3: 125,669,207 (GRCm39)	Y299C	probably damaging	Het
Upk1a	A	G	7: 30,309,145 (GRCm39)	V59A	possibly damaging	Het
Usp38	T	C	8: 81,711,432 (GRCm39)	T868A	probably benign	Het
Wdsub1	G	A	2: 59,707,059 (GRCm39)	H58Y	probably damaging	Het
Zc3h7b	T	C	15: 81,653,035 (GRCm39)	S19P	possibly damaging	Het
Zfp385b	A	C	2: 77,246,257 (GRCm39)	F257V	probably benign	Het
Zmym4	A	C	4: 126,804,940 (GRCm39)	I188S	possibly 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
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
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'- GGGCTCCTGAGCTGTCATTCATTC -3'
(R):5'- CCAATCCTGGCTTTCCCTGAAGTG -3'

Sequencing Primer
(F):5'- CCTTTGAAAGCCAGAACTAAGTG -3'
(R):5'- CAAGGCTGAGATCTGGTCC -3'

Posted On

2014-04-24