Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01688:Plekha5'

104014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekha5

Ensembl Gene

ENSMUSG00000030231

Gene Name

pleckstrin homology domain containing, family A member 5

Synonyms

2810431N21Rik, PEPP2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

140369780-140542836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140515115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 207 (Y207N)

Ref Sequence

ENSEMBL: ENSMUSP00000144973 (fasta)

Gene Model

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

AlphaFold

E9Q6H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087622
AA Change: Y731N

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: Y731N

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

possibly damaging
Transcript: ENSMUST00000203012
AA Change: Y252N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: Y252N

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

possibly damaging
Transcript: ENSMUST00000203517
AA Change: Y686N

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: Y686N

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: Y578N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204080
AA Change: Y262N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: Y262N

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

probably damaging
Transcript: ENSMUST00000205026
AA Change: Y207N

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

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: Y207N

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: Y58N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,985 (GRCm39)	L59P	probably damaging	Het
Ccin	A	T	4: 43,984,985 (GRCm39)	E464V	possibly damaging	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517 (GRCm39)	E1131K	probably damaging	Het
Cpne2	A	G	8: 95,281,381 (GRCm39)	T196A	possibly damaging	Het
Cul4a	A	T	8: 13,196,571 (GRCm39)	R742*	probably null	Het
Cyp21a1	T	A	17: 35,021,194 (GRCm39)	I370F	probably damaging	Het
Ddx51	T	C	5: 110,803,513 (GRCm39)	F332L	probably benign	Het
Gm8232	A	G	14: 44,671,179 (GRCm39)	D29G	unknown	Het
Got1	A	G	19: 43,512,775 (GRCm39)		probably null	Het
Gpat4	A	G	8: 23,671,861 (GRCm39)	I58T	probably benign	Het
Hdac3	T	A	18: 38,087,932 (GRCm39)	D12V	possibly damaging	Het
Helb	T	C	10: 119,944,885 (GRCm39)	H217R	probably damaging	Het
Hpf1	A	T	8: 61,349,830 (GRCm39)	I153L	probably benign	Het
Lgsn	G	A	1: 31,243,486 (GRCm39)	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,322,422 (GRCm39)	S561P	possibly damaging	Het
Myh6	G	A	14: 55,201,417 (GRCm39)	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,680,793 (GRCm39)		probably benign	Het
Ndufb5	T	A	3: 32,800,613 (GRCm39)	L62*	probably null	Het
Nek1	A	T	8: 61,558,631 (GRCm39)	R970*	probably null	Het
Nepro	T	C	16: 44,556,369 (GRCm39)	L509P	probably damaging	Het
Pank1	T	A	19: 34,818,252 (GRCm39)	I96F	probably damaging	Het
Parp11	C	A	6: 127,448,569 (GRCm39)	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,606,781 (GRCm39)		probably benign	Het
Pomt2	T	A	12: 87,194,294 (GRCm39)	I37F	probably benign	Het
Prl6a1	T	A	13: 27,501,969 (GRCm39)	V117E	probably damaging	Het
Prmt3	T	A	7: 49,498,480 (GRCm39)		probably null	Het
Rcor3	T	A	1: 191,807,900 (GRCm39)	E20V	probably damaging	Het
Rere	A	G	4: 150,702,893 (GRCm39)	D1449G	probably damaging	Het
Ric1	T	C	19: 29,555,014 (GRCm39)	V376A	probably benign	Het
Rims1	G	A	1: 22,467,764 (GRCm39)	T873I	probably benign	Het
Rras2	T	C	7: 113,659,632 (GRCm39)	D44G	probably damaging	Het
Sbk2	C	T	7: 4,960,716 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,717,545 (GRCm39)	I73T	probably damaging	Het
Spice1	T	A	16: 44,205,073 (GRCm39)	M793K	probably benign	Het
Suco	T	C	1: 161,691,480 (GRCm39)		probably null	Het
Tarbp1	A	T	8: 127,174,290 (GRCm39)	W839R	probably damaging	Het
Trpc4	T	A	3: 54,173,495 (GRCm39)		probably benign	Het
Tubgcp5	T	C	7: 55,464,766 (GRCm39)	V549A	possibly damaging	Het
Ubap2	T	A	4: 41,226,308 (GRCm39)	T182S	probably benign	Het
Wrn	A	C	8: 33,800,730 (GRCm39)		probably benign	Het
Zc3h15	A	G	2: 83,492,536 (GRCm39)	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855 (GRCm39)	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,611,307 (GRCm39)	V552A	probably benign	Het

Other mutations in Plekha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Plekha5	APN	6	140,515,822 (GRCm39)	splice site	probably benign
IGL00908:Plekha5	APN	6	140,496,656 (GRCm39)	missense	probably damaging	1.00
IGL01346:Plekha5	APN	6	140,480,292 (GRCm39)	splice site	probably benign
IGL01380:Plekha5	APN	6	140,516,042 (GRCm39)	splice site	probably benign
IGL01406:Plekha5	APN	6	140,518,676 (GRCm39)	missense	probably damaging	0.99
IGL01408:Plekha5	APN	6	140,516,042 (GRCm39)	splice site	probably benign
IGL01719:Plekha5	APN	6	140,515,855 (GRCm39)	missense	probably damaging	1.00
IGL01926:Plekha5	APN	6	140,471,642 (GRCm39)	missense	probably benign	0.12
IGL01936:Plekha5	APN	6	140,470,621 (GRCm39)	missense	probably damaging	1.00
IGL02326:Plekha5	APN	6	140,529,576 (GRCm39)	nonsense	probably null
IGL02544:Plekha5	APN	6	140,535,454 (GRCm39)	missense	possibly damaging	0.78
IGL02573:Plekha5	APN	6	140,527,742 (GRCm39)	missense	probably damaging	1.00
IGL02704:Plekha5	APN	6	140,489,592 (GRCm39)	missense	probably damaging	1.00
IGL02959:Plekha5	APN	6	140,489,904 (GRCm39)	missense	probably damaging	1.00
Doubletime	UTSW	6	140,471,655 (GRCm39)	nonsense	probably null
R0067:Plekha5	UTSW	6	140,470,629 (GRCm39)	missense	probably damaging	1.00
R0067:Plekha5	UTSW	6	140,470,629 (GRCm39)	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140,474,323 (GRCm39)	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140,474,323 (GRCm39)	missense	probably damaging	1.00
R0105:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0107:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0359:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0360:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0362:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0363:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0364:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0365:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0833:Plekha5	UTSW	6	140,535,360 (GRCm39)	splice site	probably benign
R0835:Plekha5	UTSW	6	140,514,576 (GRCm39)	nonsense	probably null
R0836:Plekha5	UTSW	6	140,535,360 (GRCm39)	splice site	probably benign
R0944:Plekha5	UTSW	6	140,515,922 (GRCm39)	splice site	probably benign
R2015:Plekha5	UTSW	6	140,480,290 (GRCm39)	critical splice donor site	probably null
R2043:Plekha5	UTSW	6	140,498,530 (GRCm39)	splice site	probably benign
R2086:Plekha5	UTSW	6	140,516,044 (GRCm39)	splice site	probably null
R2102:Plekha5	UTSW	6	140,518,603 (GRCm39)	missense	probably damaging	1.00
R2109:Plekha5	UTSW	6	140,369,942 (GRCm39)	missense	possibly damaging	0.56
R2135:Plekha5	UTSW	6	140,526,225 (GRCm39)	missense	possibly damaging	0.66
R2150:Plekha5	UTSW	6	140,516,129 (GRCm39)	missense	probably damaging	1.00
R2211:Plekha5	UTSW	6	140,471,587 (GRCm39)	missense	possibly damaging	0.56
R2414:Plekha5	UTSW	6	140,496,582 (GRCm39)	missense	probably damaging	1.00
R2915:Plekha5	UTSW	6	140,534,925 (GRCm39)	missense	probably damaging	0.96
R3120:Plekha5	UTSW	6	140,537,367 (GRCm39)	missense	probably benign	0.00
R3924:Plekha5	UTSW	6	140,516,105 (GRCm39)	missense	possibly damaging	0.78
R4049:Plekha5	UTSW	6	140,529,597 (GRCm39)	missense	probably damaging	1.00
R4056:Plekha5	UTSW	6	140,534,958 (GRCm39)	missense	possibly damaging	0.46
R4077:Plekha5	UTSW	6	140,501,647 (GRCm39)	splice site	probably null
R4320:Plekha5	UTSW	6	140,489,543 (GRCm39)	missense	possibly damaging	0.68
R4343:Plekha5	UTSW	6	140,501,780 (GRCm39)	missense	probably damaging	0.99
R4359:Plekha5	UTSW	6	140,537,414 (GRCm39)	missense	probably benign	0.07
R4377:Plekha5	UTSW	6	140,525,191 (GRCm39)	missense	probably damaging	1.00
R4480:Plekha5	UTSW	6	140,472,205 (GRCm39)	missense	probably damaging	1.00
R4533:Plekha5	UTSW	6	140,516,057 (GRCm39)	missense	probably damaging	1.00
R4623:Plekha5	UTSW	6	140,496,912 (GRCm39)	missense	probably damaging	0.98
R4672:Plekha5	UTSW	6	140,470,655 (GRCm39)	missense	probably damaging	0.98
R4871:Plekha5	UTSW	6	140,471,636 (GRCm39)	missense	probably damaging	1.00
R4903:Plekha5	UTSW	6	140,532,093 (GRCm39)	missense	probably damaging	1.00
R5121:Plekha5	UTSW	6	140,525,200 (GRCm39)	missense	probably damaging	1.00
R5156:Plekha5	UTSW	6	140,372,254 (GRCm39)	missense	probably damaging	1.00
R5376:Plekha5	UTSW	6	140,496,870 (GRCm39)	missense	probably damaging	1.00
R5445:Plekha5	UTSW	6	140,498,459 (GRCm39)	nonsense	probably null
R5753:Plekha5	UTSW	6	140,482,730 (GRCm39)	critical splice acceptor site	probably null
R5836:Plekha5	UTSW	6	140,372,250 (GRCm39)	missense	probably damaging	1.00
R5972:Plekha5	UTSW	6	140,518,639 (GRCm39)	missense	possibly damaging	0.78
R6196:Plekha5	UTSW	6	140,525,179 (GRCm39)	missense	probably benign	0.28
R6254:Plekha5	UTSW	6	140,532,162 (GRCm39)	missense	probably damaging	1.00
R6501:Plekha5	UTSW	6	140,471,655 (GRCm39)	nonsense	probably null
R6620:Plekha5	UTSW	6	140,518,601 (GRCm39)	missense	probably damaging	1.00
R6663:Plekha5	UTSW	6	140,523,016 (GRCm39)	missense	probably damaging	1.00
R6823:Plekha5	UTSW	6	140,471,584 (GRCm39)	missense	probably benign	0.16
R6992:Plekha5	UTSW	6	140,489,634 (GRCm39)	missense	probably damaging	1.00
R7196:Plekha5	UTSW	6	140,489,648 (GRCm39)	missense	possibly damaging	0.83
R7487:Plekha5	UTSW	6	140,516,059 (GRCm39)	missense	probably benign	0.25
R7493:Plekha5	UTSW	6	140,526,161 (GRCm39)	missense	probably benign	0.02
R7557:Plekha5	UTSW	6	140,372,271 (GRCm39)	missense	probably damaging	0.96
R7743:Plekha5	UTSW	6	140,501,712 (GRCm39)	missense	probably damaging	1.00
R7792:Plekha5	UTSW	6	140,534,950 (GRCm39)	missense	possibly damaging	0.80
R7808:Plekha5	UTSW	6	140,529,640 (GRCm39)	missense	probably damaging	1.00
R7910:Plekha5	UTSW	6	140,472,184 (GRCm39)	missense	possibly damaging	0.89
R7944:Plekha5	UTSW	6	140,526,201 (GRCm39)	missense	possibly damaging	0.48
R7945:Plekha5	UTSW	6	140,526,201 (GRCm39)	missense	possibly damaging	0.48
R7992:Plekha5	UTSW	6	140,472,267 (GRCm39)	missense	probably damaging	1.00
R8979:Plekha5	UTSW	6	140,496,818 (GRCm39)	missense	probably damaging	1.00
R9024:Plekha5	UTSW	6	140,370,176 (GRCm39)	missense	probably benign	0.10
R9135:Plekha5	UTSW	6	140,480,239 (GRCm39)	missense	probably damaging	1.00
R9215:Plekha5	UTSW	6	140,501,733 (GRCm39)	missense	possibly damaging	0.79
R9241:Plekha5	UTSW	6	140,525,204 (GRCm39)	critical splice donor site	probably null
R9447:Plekha5	UTSW	6	140,525,192 (GRCm39)	missense	probably damaging	1.00
R9625:Plekha5	UTSW	6	140,372,253 (GRCm39)	missense	probably benign	0.24
X0027:Plekha5	UTSW	6	140,370,149 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21