Mutagenetix > Incidental Mutations

Incidental Mutation 'R5156:Plekha5'

396727

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

042738-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140424054-140597110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140426528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 68 (T68M)

Ref Sequence

ENSEMBL: ENSMUSP00000145457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203517] [ENSMUST00000204145]

AlphaFold

E9Q6H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087622
AA Change: T68M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: T68M

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 damaging
Transcript: ENSMUST00000203517
AA Change: T68M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: T68M

Domain	Start	End	E-Value	Type
WW	12	44	9e-6	SMART
WW	58	90	1.3e-6	SMART
PH	171	271	8.6e-20	SMART
Blast:PH	586	697	3e-15	BLAST
coiled coil region	702	736	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204145
AA Change: T68M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
AA Change: T68M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,424		probably null	Het
4921513D11Rik	G	T	17: 79,628,209		probably benign	Het
Apeh	C	T	9: 108,094,287	A29T	probably damaging	Het
Arap2	A	T	5: 62,669,181	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Asf1b	T	C	8: 83,955,911	F28S	probably damaging	Het
Cd46	T	A	1: 195,085,385	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,479,026	T48S	probably damaging	Het
Cfap53	T	A	18: 74,359,767		probably benign	Het
Clca3a2	T	A	3: 144,805,838	T599S	probably benign	Het
Csf1	T	A	3: 107,748,936	T148S	probably benign	Het
Dmbt1	T	C	7: 131,097,670		probably null	Het
Dmpk	A	G	7: 19,084,125	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,892,960	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,628,830	M1392K	probably benign	Het
Edrf1	C	T	7: 133,660,179	A867V	probably damaging	Het
Efemp2	T	A	19: 5,477,678	C94S	possibly damaging	Het
Epha8	C	T	4: 136,938,726	S373N	probably benign	Het
Foxk1	A	G	5: 142,448,833	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,601,302	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,528,184		noncoding transcript	Het
Gm6818	A	T	7: 38,402,047		noncoding transcript	Het
Hydin	T	A	8: 110,609,701	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,769,448	M492K	probably damaging	Het
Krt20	G	T	11: 99,430,053	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,745,787	R107S	probably benign	Het
Mia2	A	G	12: 59,172,537	T436A	possibly damaging	Het
Muc19	T	A	15: 91,900,420		noncoding transcript	Het
Neu4	T	C	1: 94,024,455	V182A	probably damaging	Het
Notch2	T	G	3: 98,124,310	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,371,845	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,874,661	I172F	probably damaging	Het
Olfr1138	G	A	2: 87,737,775	P183L	possibly damaging	Het
Olfr1474	G	T	19: 13,471,673	K234N	probably damaging	Het
Olfr228	A	T	2: 86,483,018	C241*	probably null	Het
Ppef2	A	G	5: 92,244,602		probably null	Het
Ppp1r37	T	C	7: 19,561,975		probably benign	Het
Rfx4	T	C	10: 84,868,354	Y238H	probably damaging	Het
Sec13	G	A	6: 113,730,876	A161V	probably benign	Het
Serhl	G	A	15: 83,102,694		probably benign	Het
Slco4a1	T	C	2: 180,472,779	V588A	probably benign	Het
Slitrk3	T	C	3: 73,049,259	T727A	probably benign	Het
Sp100	T	A	1: 85,673,683	D241E	probably damaging	Het
Spata2	G	T	2: 167,483,574	H442N	probably damaging	Het
Speg	T	C	1: 75,428,087	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,687,329	S141P	probably damaging	Het
Trank1	A	G	9: 111,390,694	I2166M	probably damaging	Het
Trim10	T	A	17: 36,877,056	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 108,995,600	V828A	probably benign	Het
Vmn2r75	T	A	7: 86,164,228	L455F	possibly damaging	Het
Vwa8	T	A	14: 78,984,226	S541T	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
R0360: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
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
X0027:Plekha5	UTSW	6	140424423	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCATCTCAAATATTGCTGGAAC -3'
(R):5'- GGATCCATGAATACCCAGGC -3'

Sequencing Primer
(F):5'- AACTTTCCTGGTGGCTTTAAATTTG -3'
(R):5'- TAACAAGATAATGAATGAGGCTACCC -3'

Posted On

2016-06-21