Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Plekha5'

65666

Institutional Source

Beutler Lab

Gene Symbol

Plekha5

Ensembl Gene

ENSMUSG00000030231

Gene Name

pleckstrin homology domain containing, family A member 5

Synonyms

PEPP2, Tg(AMH-cre)1Flor, Gt(Ayu21)9Imeg, AMH-Cre, 2810431N21Rik, Ayu21-9

MMRRC Submission

038566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140424054-140597110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140591747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 646 (R646K)

Ref Sequence

ENSEMBL: ENSMUSP00000144973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000205026] [ENSMUST00000213444]

AlphaFold

E9Q6H8

Predicted Effect

probably benign
Transcript: ENSMUST00000087622
AA Change: R1233K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: R1233K

Domain	Start	End	E-Value	Type
WW	12	44	1.51e-3	SMART
WW	58	90	2.17e-4	SMART
PH	171	271	1.85e-17	SMART
Blast:PH	592	715	7e-39	BLAST
coiled coil region	747	781	N/A	INTRINSIC
low complexity region	896	916	N/A	INTRINSIC
low complexity region	924	938	N/A	INTRINSIC
low complexity region	1206	1224	N/A	INTRINSIC
low complexity region	1243	1258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203012
AA Change: R754K

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: R754K

Domain	Start	End	E-Value	Type
Blast:PH	210	250	2e-8	BLAST
coiled coil region	268	302	N/A	INTRINSIC
low complexity region	417	437	N/A	INTRINSIC
low complexity region	445	459	N/A	INTRINSIC
low complexity region	727	745	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203483
AA Change: R288K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: R288K

Domain	Start	End	E-Value	Type
low complexity region	261	279	N/A	INTRINSIC
low complexity region	298	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204080

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231

Domain	Start	End	E-Value	Type
Blast:PH	220	260	1e-8	BLAST
coiled coil region	278	312	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204145

SMART Domains

Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231

Domain	Start	End	E-Value	Type
WW	12	44	9e-6	SMART
WW	58	90	1.3e-6	SMART
Blast:PH	114	151	6e-14	BLAST
PDB:2DKP\|A	163	196	1e-5	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205026
AA Change: R646K

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: R646K

Domain	Start	End	E-Value	Type
Blast:PH	165	205	1e-8	BLAST
coiled coil region	223	257	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205255

Predicted Effect

probably benign
Transcript: ENSMUST00000213444
AA Change: R560K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523		probably benign	Het
Ankrd6	T	C	4: 32,836,424	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290	V429A	probably benign	Het
C7	T	A	15: 4,988,962	T800S	probably benign	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007	N310K	probably damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Dpp6	T	C	5: 27,652,269	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950	Y82C	probably damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gm6614	A	C	6: 141,982,327		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184		probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Icam4	A	G	9: 21,029,821	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729	I330T	probably damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795	H99R	probably damaging	Het
Maats1	T	A	16: 38,298,297		probably null	Het
Me3	T	A	7: 89,786,414		probably null	Het
Med13	T	C	11: 86,329,161		probably benign	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,368	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Nlrp5-ps	A	C	7: 14,583,091		noncoding transcript	Het
Nup188	T	G	2: 30,326,479	I765S	probably null	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr348	T	A	2: 36,787,440	M305K	probably benign	Het
Olfr76	G	T	19: 12,119,853	D286E	possibly damaging	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Otogl	T	A	10: 107,770,650		probably benign	Het
Pcnx3	G	A	19: 5,665,583	R1472W	probably damaging	Het
Plscr4	T	A	9: 92,488,761		probably benign	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,761,405		probably benign	Het
Slc23a1	T	A	18: 35,622,979		probably benign	Het
Sparcl1	T	A	5: 104,089,637	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649	C669S	probably damaging	Het
Wdr61	A	T	9: 54,727,578		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	probably benign	Het

Other mutations in Plekha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Plekha5	APN	6	140570096	splice site	probably benign
IGL00908:Plekha5	APN	6	140550930	missense	probably damaging	1.00
IGL01346:Plekha5	APN	6	140534566	splice site	probably benign
IGL01380:Plekha5	APN	6	140570316	splice site	probably benign
IGL01406:Plekha5	APN	6	140572950	missense	probably damaging	0.99
IGL01408:Plekha5	APN	6	140570316	splice site	probably benign
IGL01688:Plekha5	APN	6	140569389	missense	probably damaging	0.98
IGL01719:Plekha5	APN	6	140570129	missense	probably damaging	1.00
IGL01926:Plekha5	APN	6	140525916	missense	probably benign	0.12
IGL01936:Plekha5	APN	6	140524895	missense	probably damaging	1.00
IGL02326:Plekha5	APN	6	140583850	nonsense	probably null
IGL02544:Plekha5	APN	6	140589728	missense	possibly damaging	0.78
IGL02573:Plekha5	APN	6	140582016	missense	probably damaging	1.00
IGL02704:Plekha5	APN	6	140543866	missense	probably damaging	1.00
IGL02959:Plekha5	APN	6	140544178	missense	probably damaging	1.00
Doubletime	UTSW	6	140525929	nonsense	probably null
R0067:Plekha5	UTSW	6	140524903	missense	probably damaging	1.00
R0067:Plekha5	UTSW	6	140524903	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140528597	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140528597	missense	probably damaging	1.00
R0105:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0107:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0359:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0362:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0363:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0364:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0365:Plekha5	UTSW	6	140591747	missense	possibly damaging	0.80
R0833:Plekha5	UTSW	6	140589634	splice site	probably benign
R0835:Plekha5	UTSW	6	140568850	nonsense	probably null
R0836:Plekha5	UTSW	6	140589634	splice site	probably benign
R0944:Plekha5	UTSW	6	140570196	splice site	probably benign
R2015:Plekha5	UTSW	6	140534564	critical splice donor site	probably null
R2043:Plekha5	UTSW	6	140552804	splice site	probably benign
R2086:Plekha5	UTSW	6	140570318	splice site	probably null
R2102:Plekha5	UTSW	6	140572877	missense	probably damaging	1.00
R2109:Plekha5	UTSW	6	140424216	missense	possibly damaging	0.56
R2135:Plekha5	UTSW	6	140580499	missense	possibly damaging	0.66
R2150:Plekha5	UTSW	6	140570403	missense	probably damaging	1.00
R2211:Plekha5	UTSW	6	140525861	missense	possibly damaging	0.56
R2414:Plekha5	UTSW	6	140550856	missense	probably damaging	1.00
R2915:Plekha5	UTSW	6	140589199	missense	probably damaging	0.96
R3120:Plekha5	UTSW	6	140591641	missense	probably benign	0.00
R3924:Plekha5	UTSW	6	140570379	missense	possibly damaging	0.78
R4049:Plekha5	UTSW	6	140583871	missense	probably damaging	1.00
R4056:Plekha5	UTSW	6	140589232	missense	possibly damaging	0.46
R4077:Plekha5	UTSW	6	140555921	splice site	probably null
R4320:Plekha5	UTSW	6	140543817	missense	possibly damaging	0.68
R4343:Plekha5	UTSW	6	140556054	missense	probably damaging	0.99
R4359:Plekha5	UTSW	6	140591688	missense	probably benign	0.07
R4377:Plekha5	UTSW	6	140579465	missense	probably damaging	1.00
R4480:Plekha5	UTSW	6	140526479	missense	probably damaging	1.00
R4533:Plekha5	UTSW	6	140570331	missense	probably damaging	1.00
R4623:Plekha5	UTSW	6	140551186	missense	probably damaging	0.98
R4672:Plekha5	UTSW	6	140524929	missense	probably damaging	0.98
R4871:Plekha5	UTSW	6	140525910	missense	probably damaging	1.00
R4903:Plekha5	UTSW	6	140586367	missense	probably damaging	1.00
R5121:Plekha5	UTSW	6	140579474	missense	probably damaging	1.00
R5156:Plekha5	UTSW	6	140426528	missense	probably damaging	1.00
R5376:Plekha5	UTSW	6	140551144	missense	probably damaging	1.00
R5445:Plekha5	UTSW	6	140552733	nonsense	probably null
R5753:Plekha5	UTSW	6	140537004	critical splice acceptor site	probably null
R5836:Plekha5	UTSW	6	140426524	missense	probably damaging	1.00
R5972:Plekha5	UTSW	6	140572913	missense	possibly damaging	0.78
R6196:Plekha5	UTSW	6	140579453	missense	probably benign	0.28
R6254:Plekha5	UTSW	6	140586436	missense	probably damaging	1.00
R6501:Plekha5	UTSW	6	140525929	nonsense	probably null
R6620:Plekha5	UTSW	6	140572875	missense	probably damaging	1.00
R6663:Plekha5	UTSW	6	140577290	missense	probably damaging	1.00
R6823:Plekha5	UTSW	6	140525858	missense	probably benign	0.16
R6992:Plekha5	UTSW	6	140543908	missense	probably damaging	1.00
R7196:Plekha5	UTSW	6	140543922	missense	possibly damaging	0.83
R7487:Plekha5	UTSW	6	140570333	missense	probably benign	0.25
R7493:Plekha5	UTSW	6	140580435	missense	probably benign	0.02
R7557:Plekha5	UTSW	6	140426545	missense	probably damaging	0.96
R7743:Plekha5	UTSW	6	140555986	missense	probably damaging	1.00
R7792:Plekha5	UTSW	6	140589224	missense	possibly damaging	0.80
R7808:Plekha5	UTSW	6	140583914	missense	probably damaging	1.00
R7910:Plekha5	UTSW	6	140526458	missense	possibly damaging	0.89
R7944:Plekha5	UTSW	6	140580475	missense	possibly damaging	0.48
R7945:Plekha5	UTSW	6	140580475	missense	possibly damaging	0.48
R7992:Plekha5	UTSW	6	140526541	missense	probably damaging	1.00
R8979:Plekha5	UTSW	6	140551092	missense	probably damaging	1.00
R9024:Plekha5	UTSW	6	140424450	missense	probably benign	0.10
R9135:Plekha5	UTSW	6	140534513	missense	probably damaging	1.00
R9215:Plekha5	UTSW	6	140556007	missense	possibly damaging	0.79
R9241:Plekha5	UTSW	6	140579478	critical splice donor site	probably null
R9447:Plekha5	UTSW	6	140579466	missense	probably damaging	1.00
R9625:Plekha5	UTSW	6	140426527	missense	probably benign	0.24
X0027:Plekha5	UTSW	6	140424423	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08