Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Plekha2'

100148

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

039250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1178 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

25529160-25592392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25549218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 189 (S189A)

Ref Sequence

ENSEMBL: ENSMUSP00000122564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064883] [ENSMUST00000098866] [ENSMUST00000125466] [ENSMUST00000128715]

AlphaFold

Q9ERS5

Predicted Effect

probably benign
Transcript: ENSMUST00000064883
AA Change: S189A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: S189A

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: S189A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: S189A

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: ENSMUST00000125466

SMART Domains

Protein: ENSMUSP00000116764
Gene: ENSMUSG00000031557

Domain	Start	End	E-Value	Type
PDB:1V5P\|A	1	95	4e-68	PDB
Blast:PH	8	95	9e-61	BLAST
SCOP:d1eaza_	11	95	1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128715
AA Change: S189A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: S189A

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: ENSMUST00000211708

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

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
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	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
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

Predicted Primers

Posted On

2014-01-15