Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Plekha2'

457247

Institutional Source

Beutler Lab

Gene Symbol

Plekha2

Ensembl Gene

ENSMUSG00000031557

Gene Name

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

Synonyms

TAPP2, 6430512N22Rik

MMRRC Submission

044093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25529160-25592392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25542381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 278 (V278I)

Ref Sequence

ENSEMBL: ENSMUSP00000122564 (fasta)

Gene Model

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

AlphaFold

Q9ERS5

Predicted Effect

probably benign
Transcript: ENSMUST00000064883
AA Change: V278I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: V278I

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: ENSMUST00000098866
AA Change: V278I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: V278I

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: ENSMUST00000128715
AA Change: V278I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: V278I

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

Meta Mutation Damage Score

0.0764

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 100,127,124 (GRCm39)		probably benign	Het
Abcb11	C	T	2: 69,091,844 (GRCm39)	A893T	probably damaging	Het
Adtrp	A	T	13: 41,981,682 (GRCm39)	N30K	probably benign	Het
Alms1	T	A	6: 85,597,885 (GRCm39)	S904T	probably damaging	Het
Cep170	T	A	1: 176,582,953 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,946,994 (GRCm39)	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,535,572 (GRCm39)	E4G	probably benign	Het
Depdc1a	G	C	3: 159,232,306 (GRCm39)	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,376,753 (GRCm39)		probably null	Het
Enox1	A	G	14: 77,723,457 (GRCm39)		probably benign	Het
Fam107b	A	G	2: 3,779,601 (GRCm39)	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,435,917 (GRCm39)	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183 (GRCm38)	T1252K	probably damaging	Het
Fubp1	A	G	3: 151,923,951 (GRCm39)		probably benign	Het
Gm20402	G	A	3: 52,176,370 (GRCm39)	A50T	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gzmk	C	T	13: 113,310,456 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,270,028 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,223,813 (GRCm39)	T677A	probably damaging	Het
Kat6a	A	G	8: 23,428,305 (GRCm39)	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,890,204 (GRCm39)	T498A	probably damaging	Het
Lrp2	T	A	2: 69,273,120 (GRCm39)	T4043S	probably benign	Het
Malrd1	A	G	2: 15,619,078 (GRCm39)	N314S	probably benign	Het
Mfsd1	A	G	3: 67,497,162 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,138,300 (GRCm39)	P381S	probably benign	Het
Myh2	A	T	11: 67,076,002 (GRCm39)	K730*	probably null	Het
Nat3	T	A	8: 68,000,590 (GRCm39)	N156K	probably benign	Het
Nelfe	T	C	17: 35,073,645 (GRCm39)		probably benign	Het
Nlrp1a	A	T	11: 70,990,471 (GRCm39)	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,011,014 (GRCm39)	Y343C	probably damaging	Het
Pclo	A	T	5: 14,571,185 (GRCm39)	Q190L	probably damaging	Het
Pde8a	A	G	7: 80,945,439 (GRCm39)	N183S	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Ppox	C	T	1: 171,105,034 (GRCm39)	V385I	probably damaging	Het
Prdm16	T	C	4: 154,407,716 (GRCm39)	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,747,368 (GRCm39)	S470T	probably damaging	Het
Robo2	T	A	16: 73,692,668 (GRCm39)		probably benign	Het
Siglecg	G	A	7: 43,061,628 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,949,810 (GRCm39)	N367S	probably damaging	Het
Tex29	C	T	8: 11,904,288 (GRCm39)		probably benign	Het
Tmem117	T	A	15: 94,536,020 (GRCm39)	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,249,366 (GRCm39)	M122I	probably benign	Het
Tpr	T	A	1: 150,283,151 (GRCm39)	N287K	probably benign	Het
Unc93b1	A	T	19: 3,993,632 (GRCm39)	D358V	probably damaging	Het
Vrk2	A	T	11: 26,484,372 (GRCm39)		probably benign	Het
Wdr24	A	T	17: 26,046,960 (GRCm39)	Q671L	probably benign	Het
Zfp110	C	T	7: 12,582,405 (GRCm39)	T351I	probably benign	Het
Zfp963	T	C	8: 70,196,027 (GRCm39)	D142G	probably benign	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
IGL02123:Plekha2	APN	8	25,532,745 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTAGTTGGAGCTCTGCAG -3'
(R):5'- CTTATCCACAGGAAGGAGAAAGTC -3'

Sequencing Primer
(F):5'- TGCTACAGAGGCTGGCATC -3'
(R):5'- GGAGAAAGTCTTGAGTTGCATTAG -3'

Posted On

2017-02-15