Mutagenetix > Incidental Mutation

Incidental Mutation 'R6663:Plekha5'

526872

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

Accession Numbers

Essential gene?

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

Stock #

R6663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140424054-140597110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140577290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 719 (M719V)

Gene Model

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

AlphaFold

E9Q6H8

Predicted Effect

probably benign
Transcript: ENSMUST00000087622
AA Change: M872V

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: M872V

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: M393V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: M393V

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

noncoding transcript
Transcript: ENSMUST00000203315

Predicted Effect

probably benign
Transcript: ENSMUST00000203483

SMART Domains

Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203517
AA Change: M827V

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: M827V

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: ENSMUST00000203955
AA Change: M719V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204080
AA Change: M403V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: M403V

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

noncoding transcript
Transcript: ENSMUST00000204755

Predicted Effect

probably benign
Transcript: ENSMUST00000205026
AA Change: M348V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: M348V

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: M199V

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

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Btbd3	T	A	2: 138,279,083	I59K	probably benign	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Cpsf2	T	C	12: 101,999,593	Y606H	probably damaging	Het
Csn1s1	T	C	5: 87,675,740	V154A	probably benign	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Med6	T	A	12: 81,581,875	D80V	possibly damaging	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Prg4	G	A	1: 150,455,101		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Tbccd1	AT	ATGT	16: 22,834,028		probably null	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	possibly 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	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
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

PCR Primer
(F):5'- AATACCCTGGGACTTAGCCC -3'
(R):5'- CTGCCAGAATTGCTGCTTTTG -3'

Sequencing Primer
(F):5'- CTGTTGCTGTCATAGAAAACCC -3'
(R):5'- AGAATTGCTGCTTTTGGTTTATTAAG -3'

Posted On

2018-07-23