Mutagenetix > Incidental Mutations

Incidental Mutation 'R6254:Plekha5'

505977

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

044371-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140424054-140597110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140586436 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 501 (G501E)

Ref Sequence

ENSEMBL: ENSMUSP00000144973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000203517] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000205026] [ENSMUST00000213444]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087622
AA Change: G1088E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: G1088E

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: ENSMUST00000203012
AA Change: G609E

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

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: G609E

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 damaging
Transcript: ENSMUST00000203483
AA Change: G143E

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

SMART Domains

Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: G143E

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: ENSMUST00000203517
AA Change: G980E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: G980E

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

unknown
Transcript: ENSMUST00000203955
AA Change: G935E

Predicted Effect

probably damaging
Transcript: ENSMUST00000204080
AA Change: G556E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: G556E

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

noncoding transcript
Transcript: ENSMUST00000204528

Predicted Effect

probably damaging
Transcript: ENSMUST00000205026
AA Change: G501E

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

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: G501E

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 damaging
Transcript: ENSMUST00000213444
AA Change: G415E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	G	8: 13,706,043	D26G	possibly damaging	Het
Adam6b	A	T	12: 113,489,570	L2F	probably damaging	Het
Ank2	T	A	3: 126,941,804		probably benign	Het
Anpep	T	G	7: 79,839,233	D369A	probably damaging	Het
App	T	C	16: 84,978,177	E599G	probably damaging	Het
Asphd1	C	T	7: 126,948,868	V88I	probably benign	Het
Atad5	A	T	11: 80,127,389	I1389F	probably damaging	Het
Blm	T	C	7: 80,480,342	N950S	probably benign	Het
Bsn	A	T	9: 108,111,866	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,509,216	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,163		probably null	Het
Cdh1	T	A	8: 106,663,798	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,364,032	T160M	probably damaging	Het
Chrna5	A	G	9: 55,006,456	M325V	probably benign	Het
Clca3a2	A	G	3: 144,802,134	I116T	probably benign	Het
Cyp2c23	T	C	19: 44,005,463	K488R	probably benign	Het
Edil3	T	A	13: 89,319,729	I451N	probably damaging	Het
Exph5	T	G	9: 53,372,710	S364A	possibly damaging	Het
Fam84b	A	G	15: 60,823,801	I32T	probably damaging	Het
Fam98c	A	G	7: 29,154,517	S209P	probably damaging	Het
Fat3	G	A	9: 15,996,145	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,505,500		probably null	Het
Fermt2	T	C	14: 45,476,059	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,196,315		probably benign	Het
Fn3k	A	G	11: 121,435,068	E27G	probably damaging	Het
Foxj2	A	G	6: 122,838,139	H378R	probably damaging	Het
Fubp1	A	G	3: 152,232,408	K140E	possibly damaging	Het
Gm4788	A	G	1: 139,754,390	I156T	probably damaging	Het
Gm7694	A	T	1: 170,302,534	C98*	probably null	Het
Golgb1	T	C	16: 36,913,978	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,047,396		probably null	Het
Hltf	T	A	3: 20,063,829	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,695,270	R251H	probably benign	Het
Ipo7	T	A	7: 110,049,060	D688E	probably benign	Het
Itgal	T	A	7: 127,325,203	N897K	probably damaging	Het
Itsn2	A	G	12: 4,624,982		probably null	Het
Kcnk13	A	G	12: 99,965,372		probably benign	Het
Kdm7a	A	G	6: 39,170,269	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,349,874	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,275,912		probably benign	Het
Lingo1	T	A	9: 56,620,087	D406V	possibly damaging	Het
Lrriq1	A	T	10: 103,215,451	V480E	probably benign	Het
Mtcl1	C	T	17: 66,358,134	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,497,381	Q360*	probably null	Het
Muc6	T	C	7: 141,651,115	N252S	probably benign	Het
Naa20	T	C	2: 145,903,320	L4P	probably damaging	Het
Neb	T	A	2: 52,222,961	I4274L	probably benign	Het
Noa1	A	T	5: 77,309,669	F130I	probably benign	Het
Nrg4	G	T	9: 55,236,512	H87N	possibly damaging	Het
Olfr1024	T	A	2: 85,904,505	Y183F	probably damaging	Het
Olfr632	T	A	7: 103,937,534	H51Q	probably benign	Het
P3h3	C	T	6: 124,845,601	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,421,718	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,689,406	T71A	possibly damaging	Het
Plaur	T	A	7: 24,466,800	C99S	possibly damaging	Het
Plxnd1	C	T	6: 115,977,960	V614M	probably benign	Het
Ppp2r3a	T	C	9: 101,148,587	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,157,470	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptk7	C	A	17: 46,572,642	Q832H	probably damaging	Het
Qser1	T	C	2: 104,790,090	S126G	probably benign	Het
Rab3ip	A	T	10: 116,915,867	C332S	probably damaging	Het
Raly	C	A	2: 154,857,366	T30K	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,867,224	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,584,309	T57I	probably benign	Het
Samd4	A	G	14: 47,016,631	D184G	probably damaging	Het
Slc35f3	T	C	8: 126,321,094	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,699,877	I1467T	probably damaging	Het
Spag17	T	G	3: 100,065,585	I1371S	probably benign	Het
Sptan1	T	C	2: 30,007,549	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,421,697	A344V	probably benign	Het
Supt16	A	G	14: 52,170,834	W885R	probably damaging	Het
Tdrd9	T	A	12: 112,025,900		probably null	Het
Tmod1	A	G	4: 46,078,469		probably null	Het
Tnfsf13	A	C	11: 69,684,483		probably null	Het
Trim75	C	A	8: 64,983,442	E119*	probably null	Het
Wdr6	T	C	9: 108,574,911	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,718,283	R137H	probably benign	Het
Ythdf1	T	A	2: 180,911,150	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,756,186	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,181,794	F743L	probably damaging	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	intron	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
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
X0027:Plekha5	UTSW	6	140424423	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCTATGCAAGAACCTCACC -3'
(R):5'- GCTAGTGGCTCTTCTGTCAC -3'

Sequencing Primer
(F):5'- TCACCAAGTGAGGGACTGTGC -3'
(R):5'- GTCACTACCCTGGCTGCC -3'

Posted On

2018-02-28