Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Plekha2'

280702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekha2

Ensembl Gene

ENSMUSG00000031557

Gene Name

pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2

Synonyms

TAPP2, 6430512N22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

25529160-25592392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25532745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 409 (K409E)

Ref Sequence

ENSEMBL: ENSMUSP00000122564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064883] [ENSMUST00000084031] [ENSMUST00000098866] [ENSMUST00000128715]

AlphaFold

Q9ERS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000064883
AA Change: K409E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: K409E

Domain	Start	End	E-Value	Type
PH	8	115	3.11e-10	SMART
PH	199	300	1.91e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084031

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IB	37	112	5.44e-7	SMART
KAZAL	109	158	7.92e-4	SMART
Pfam:Trypsin	182	368	5.5e-15	PFAM
Pfam:Trypsin_2	208	346	2.1e-34	PFAM
PDZ	385	470	5.34e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098866

SMART Domains

Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557

Domain	Start	End	E-Value	Type
PH	8	115	3.11e-10	SMART
PH	199	300	1.91e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128715
AA Change: K409E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: K409E

Domain	Start	End	E-Value	Type
PH	8	115	3.11e-10	SMART
PH	199	300	1.91e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211059

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,328,914 (GRCm39)	T31A	probably benign	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ampd3	T	C	7: 110,401,766 (GRCm39)	V429A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cldn11	C	T	3: 31,204,336 (GRCm39)	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801 (GRCm39)	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,569,740 (GRCm39)		probably null	Het
Copa	T	A	1: 171,939,695 (GRCm39)	L621H	probably damaging	Het
Dbn1	T	C	13: 55,624,553 (GRCm39)	D332G	possibly damaging	Het
Drc1	T	C	5: 30,504,448 (GRCm39)	S197P	probably benign	Het
E2f2	A	G	4: 135,900,159 (GRCm39)	N23S	probably benign	Het
Epb41l2	T	A	10: 25,336,742 (GRCm39)	L246H	probably damaging	Het
Fam13b	G	A	18: 34,578,671 (GRCm39)		probably benign	Het
Fam184b	A	G	5: 45,796,493 (GRCm39)	M30T	possibly damaging	Het
Fn3krp	G	A	11: 121,320,270 (GRCm39)	R205H	probably benign	Het
Fndc11	A	G	2: 180,863,443 (GRCm39)	I83V	probably benign	Het
Garin2	T	C	12: 78,780,981 (GRCm39)		probably null	Het
Gm3629	C	T	14: 17,834,541 (GRCm39)	R150H	probably benign	Het
Hs6st1	T	A	1: 36,142,952 (GRCm39)	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,226,081 (GRCm39)	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,608,989 (GRCm39)	F385L	probably benign	Het
Krt87	A	T	15: 101,385,466 (GRCm39)	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,632,342 (GRCm39)	I162F	probably damaging	Het
Map3k21	A	G	8: 126,652,849 (GRCm39)	E325G	probably damaging	Het
Mpo	A	T	11: 87,685,621 (GRCm39)	N33I	probably benign	Het
Mpp4	A	G	1: 59,200,625 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,494 (GRCm39)	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,171,554 (GRCm39)		probably benign	Het
Nostrin	C	T	2: 68,986,453 (GRCm39)		probably benign	Het
Nphp1	T	C	2: 127,595,969 (GRCm39)	M498V	probably benign	Het
Nr4a2	A	T	2: 57,001,667 (GRCm39)	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,873 (GRCm39)	N598I	probably damaging	Het
Pex19	T	A	1: 171,961,853 (GRCm39)	M207K	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Plxna2	T	C	1: 194,476,691 (GRCm39)	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,948,373 (GRCm39)		probably benign	Het
Ptrh1	T	C	2: 32,666,826 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,288,265 (GRCm39)	E439G	probably damaging	Het
Ric1	C	T	19: 29,572,200 (GRCm39)	A665V	probably benign	Het
Stx18	T	A	5: 38,285,447 (GRCm39)	V219D	probably damaging	Het
Taf7	A	T	18: 37,775,533 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,415,988 (GRCm39)	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,419,317 (GRCm39)	S766P	probably damaging	Het
Tekt3	C	A	11: 62,974,766 (GRCm39)	H362N	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem94	T	C	11: 115,678,364 (GRCm39)	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,367,933 (GRCm39)	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,953,744 (GRCm39)	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,300,941 (GRCm39)	C648S	probably damaging	Het
Zfpm2	G	A	15: 40,965,591 (GRCm39)	C560Y	probably damaging	Het

Other mutations in Plekha2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Plekha2	APN	8	25,547,343 (GRCm39)	missense	probably damaging	0.98
abstruse	UTSW	8	25,578,407 (GRCm39)	missense	probably damaging	1.00
Byzantine	UTSW	8	25,578,411 (GRCm39)	missense	probably damaging	1.00
Complexity	UTSW	8	25,547,314 (GRCm39)	missense	probably damaging	1.00
Elaborate	UTSW	8	25,533,063 (GRCm39)	splice site	probably null
R1178:Plekha2	UTSW	8	25,549,218 (GRCm39)	missense	probably benign	0.26
R1181:Plekha2	UTSW	8	25,549,218 (GRCm39)	missense	probably benign	0.26
R1668:Plekha2	UTSW	8	25,562,070 (GRCm39)	missense	probably damaging	0.98
R1722:Plekha2	UTSW	8	25,532,976 (GRCm39)	missense	probably benign	0.02
R2153:Plekha2	UTSW	8	25,578,413 (GRCm39)	missense	probably damaging	1.00
R4223:Plekha2	UTSW	8	25,533,036 (GRCm39)	missense	probably damaging	1.00
R4585:Plekha2	UTSW	8	25,533,685 (GRCm39)	nonsense	probably null
R4604:Plekha2	UTSW	8	25,549,851 (GRCm39)	missense	probably null	1.00
R4791:Plekha2	UTSW	8	25,532,778 (GRCm39)	missense	probably damaging	1.00
R4817:Plekha2	UTSW	8	25,549,960 (GRCm39)	missense	possibly damaging	0.94
R5344:Plekha2	UTSW	8	25,533,063 (GRCm39)	splice site	probably null
R5670:Plekha2	UTSW	8	25,549,254 (GRCm39)	missense	probably benign	0.03
R5892:Plekha2	UTSW	8	25,542,381 (GRCm39)	missense	probably benign
R6440:Plekha2	UTSW	8	25,578,413 (GRCm39)	missense	probably damaging	1.00
R6970:Plekha2	UTSW	8	25,549,280 (GRCm39)	missense	probably benign	0.00
R7157:Plekha2	UTSW	8	25,553,957 (GRCm39)	missense	probably damaging	1.00
R7242:Plekha2	UTSW	8	25,578,411 (GRCm39)	missense	probably damaging	1.00
R7674:Plekha2	UTSW	8	25,547,314 (GRCm39)	missense	probably damaging	1.00
R7810:Plekha2	UTSW	8	25,578,356 (GRCm39)	critical splice donor site	probably null
R8048:Plekha2	UTSW	8	25,554,005 (GRCm39)	splice site	probably benign
R8359:Plekha2	UTSW	8	25,578,407 (GRCm39)	missense	probably damaging	1.00
X0027:Plekha2	UTSW	8	25,547,319 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16