Mutagenetix > Incidental Mutations

Incidental Mutation 'R5972:Plekha5'

471465

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

044155-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R5972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140424054-140597110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140572913 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 309 (T309A)

Ref Sequence

ENSEMBL: ENSMUSP00000144973 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087622
AA Change: T833A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: T833A

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: T354A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: T354A

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

probably benign
Transcript: ENSMUST00000203517
AA Change: T788A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: T788A

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: T680A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204080
AA Change: T364A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: T364A

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: ENSMUST00000204755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205026
AA Change: T309A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: T309A

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: T160A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,672,085	M305K	probably benign	Het
Accs	G	T	2: 93,839,227	H283N	probably damaging	Het
Actl6b	A	T	5: 137,566,556	H283L	possibly damaging	Het
Adgra1	T	C	7: 139,845,667	L32P	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Arfgef2	T	C	2: 166,891,836	I1672T	probably damaging	Het
Arntl2	A	G	6: 146,809,689	M64V	probably damaging	Het
Bambi	T	A	18: 3,512,354	V246E	probably damaging	Het
BC048679	A	G	7: 81,495,731	L29P	probably damaging	Het
Camk4	T	C	18: 33,107,926	L92P	probably damaging	Het
Ddx11	C	A	17: 66,148,090	Q655K	probably benign	Het
Ddx52	A	G	11: 83,953,225		probably null	Het
Eps8l3	T	C	3: 107,884,447		probably null	Het
Erap1	T	A	13: 74,662,304		probably null	Het
Fam189b	T	A	3: 89,185,808	V213D	probably damaging	Het
Flg	T	A	3: 93,279,542	N100K	probably benign	Het
Grip2	A	T	6: 91,807,281	V13E	probably benign	Het
Iars	T	C	13: 49,709,632	V520A	possibly damaging	Het
Impa1	A	G	3: 10,329,004	M1T	probably null	Het
Ip6k3	T	C	17: 27,149,960	T179A	possibly damaging	Het
Krt83	T	A	15: 101,487,586	M302L	probably benign	Het
Lrp8	T	C	4: 107,869,070	Y899H	probably damaging	Het
Lrpprc	A	T	17: 84,712,822	I1145N	possibly damaging	Het
Mapk11	A	T	15: 89,144,184	D324E	probably benign	Het
Melk	C	T	4: 44,351,007	T516I	probably benign	Het
Mia2	C	T	12: 59,146,937	H130Y	probably damaging	Het
Mroh5	C	T	15: 73,790,719		probably null	Het
Ncam1	T	C	9: 49,507,529	T824A	possibly damaging	Het
Neurog1	T	C	13: 56,251,398	S179G	probably damaging	Het
Ntrk2	T	A	13: 58,837,819	L79Q	probably damaging	Het
Patj	T	A	4: 98,569,053	M46K	probably damaging	Het
Pdcd6ip	T	C	9: 113,662,298	K626E	probably benign	Het
Pdss2	T	A	10: 43,298,926	Y143N	probably damaging	Het
Pkhd1l1	G	A	15: 44,545,416	S2433N	probably damaging	Het
Prdm4	C	T	10: 85,907,501	V297M	probably damaging	Het
Rab15	T	C	12: 76,800,603	Y148C	probably damaging	Het
Ryr3	A	T	2: 112,834,064	N1627K	probably damaging	Het
Scn1a	G	T	2: 66,351,110	A23E	possibly damaging	Het
Smtn	A	T	11: 3,533,486	I30N	probably damaging	Het
Sympk	A	G	7: 19,046,824	K751E	probably benign	Het
Usp24	C	T	4: 106,368,067	P632L	probably damaging	Het
Vmn2r106	A	G	17: 20,278,476	I391T	probably benign	Het
Vmn2r54	G	A	7: 12,615,352	P768S	probably damaging	Het
Vmn2r54	C	T	7: 12,635,947	C63Y	probably damaging	Het
Zfhx3	T	G	8: 108,950,851	C2844W	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
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
X0027:Plekha5	UTSW	6	140424423	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTGGATGACTGCGGTTC -3'
(R):5'- CAGGGTCCCGTAAGATGCAAAG -3'

Sequencing Primer
(F):5'- CTCTGGAAGAACAGTCAGTGCTC -3'
(R):5'- CCCGTAAGATGCAAAGGTTTTATAG -3'

Posted On

2017-03-31