Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02704:Plekha5'

304275

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: 0.163) question?

Stock #

IGL02704

Quality Score

Status

Chromosome

Chromosomal Location

140369780-140542836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140489592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 223 (E223G)

Ref Sequence

ENSEMBL: ENSMUSP00000145336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203517] [ENSMUST00000203774] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000204876] [ENSMUST00000205026]

AlphaFold

E9Q6H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087622
AA Change: E332G

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

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: E332G

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

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231

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: E326G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: E326G

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: ENSMUST00000203774
AA Change: E217G

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

SMART Domains

Protein: ENSMUSP00000144832
Gene: ENSMUSG00000030231
AA Change: E217G

Domain	Start	End	E-Value	Type
PH	62	162	8.6e-20	SMART
Blast:PH	477	511	4e-8	BLAST
low complexity region	512	521	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000203955
AA Change: E249G

Predicted Effect

probably benign
Transcript: ENSMUST00000204080

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231

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

probably damaging
Transcript: ENSMUST00000204876
AA Change: E223G

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

SMART Domains

Protein: ENSMUSP00000145336
Gene: ENSMUSG00000030231
AA Change: E223G

Domain	Start	End	E-Value	Type
PH	62	162	8.6e-20	SMART
Blast:PH	483	517	3e-8	BLAST
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205255

Predicted Effect

probably benign
Transcript: ENSMUST00000205026

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231

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: ENSMUST00000205025

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	G	T	2: 93,673,271 (GRCm39)	P162Q	probably damaging	Het
Alb	A	G	5: 90,616,368 (GRCm39)	N291S	possibly damaging	Het
Ankar	T	C	1: 72,691,502 (GRCm39)	D935G	possibly damaging	Het
Atp13a5	A	T	16: 29,070,080 (GRCm39)	C935*	probably null	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Ddah2	C	A	17: 35,279,983 (GRCm39)	D158E	possibly damaging	Het
Dnah7b	C	T	1: 46,181,293 (GRCm39)	T1060I	probably benign	Het
Efhb	T	C	17: 53,733,297 (GRCm39)	T525A	probably damaging	Het
Exoc3	A	G	13: 74,322,263 (GRCm39)	M604T	probably benign	Het
Frmpd1	T	G	4: 45,285,082 (GRCm39)	I1301S	possibly damaging	Het
Gm5269	T	C	1: 45,929,235 (GRCm39)	T2A	probably benign	Het
Hif3a	T	A	7: 16,784,686 (GRCm39)		probably benign	Het
Hpgds	A	T	6: 65,100,621 (GRCm39)	L119*	probably null	Het
Iars1	A	G	13: 49,874,576 (GRCm39)	D750G	probably damaging	Het
Ift43	T	A	12: 86,207,951 (GRCm39)	D106E	probably benign	Het
Iqub	T	A	6: 24,505,909 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,368,466 (GRCm39)	K1199E	probably benign	Het
Mast3	T	A	8: 71,239,519 (GRCm39)	I395F	probably damaging	Het
Megf8	T	C	7: 25,059,207 (GRCm39)	S2236P	probably damaging	Het
Met	T	A	6: 17,491,256 (GRCm39)	V6E	possibly damaging	Het
Muc5ac	A	T	7: 141,349,000 (GRCm39)	T479S	possibly damaging	Het
Myo7b	T	C	18: 32,100,014 (GRCm39)	T1623A	probably benign	Het
Neto1	T	C	18: 86,491,948 (GRCm39)	L283P	probably damaging	Het
Onecut1	A	G	9: 74,770,312 (GRCm39)	N245S	probably damaging	Het
Or2t6	T	C	14: 14,175,483 (GRCm38)	I200V	probably benign	Het
Or4k41	A	T	2: 111,279,492 (GRCm39)	E2D	probably benign	Het
Or8b52	G	A	9: 38,577,063 (GRCm39)	P26S	possibly damaging	Het
Or8g34	T	C	9: 39,373,579 (GRCm39)	V284A	probably damaging	Het
Or8i2	T	C	2: 86,852,621 (GRCm39)	Q89R	probably benign	Het
Pkd1l1	A	G	11: 8,784,910 (GRCm39)	V1958A	probably benign	Het
Plb1	C	T	5: 32,511,011 (GRCm39)	A1292V	probably benign	Het
Pou1f1	A	T	16: 65,326,685 (GRCm39)	Q121L	possibly damaging	Het
Rbm25	G	A	12: 83,689,500 (GRCm39)	G47D	probably damaging	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Scn8a	A	G	15: 100,905,943 (GRCm39)	E712G	possibly damaging	Het
Snx24	A	G	18: 53,460,509 (GRCm39)	N29S	probably benign	Het
Tmem217	A	T	17: 29,745,532 (GRCm39)	V66D	probably damaging	Het
Ttn	T	G	2: 76,597,985 (GRCm39)	N19643H	probably damaging	Het
Uimc1	T	C	13: 55,178,772 (GRCm39)	T646A	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
IGL01688:Plekha5	APN	6	140,515,115 (GRCm39)	missense	probably damaging	0.98
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
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

2015-04-16