Mutagenetix > Incidental Mutation

Incidental Mutation 'R0882:Plekha3'

80605

Institutional Source

Beutler Lab

Gene Symbol

Plekha3

Ensembl Gene

ENSMUSG00000002733

Gene Name

pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3

Synonyms

FAPP1

MMRRC Submission

039049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76505625-76527172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76513142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 76 (V76I)

Ref Sequence

ENSEMBL: ENSMUSP00000107551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111920]

AlphaFold

Q9ERS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111920
AA Change: V76I

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107551
Gene: ENSMUSG00000002733
AA Change: V76I

Domain	Start	End	E-Value	Type
PH	1	95	4.85e-12	SMART
Blast:PH	106	177	5e-13	BLAST
low complexity region	189	203	N/A	INTRINSIC
low complexity region	215	224	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Adh1	A	T	3: 137,992,558 (GRCm39)	I225F	possibly damaging	Het
Agap2	A	G	10: 126,923,319 (GRCm39)	K691E	unknown	Het
Alcam	T	C	16: 52,073,573 (GRCm39)	D564G	possibly damaging	Het
Apbb2	T	A	5: 66,557,598 (GRCm39)	T289S	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cep68	T	C	11: 20,189,393 (GRCm39)	I540V	probably benign	Het
Ctla4	T	C	1: 60,948,397 (GRCm39)	V23A	probably benign	Het
Dnah7b	T	A	1: 46,379,292 (GRCm39)	D3675E	probably benign	Het
Fam209	G	T	2: 172,314,555 (GRCm39)	V15F	probably benign	Het
Fat3	A	G	9: 15,942,664 (GRCm39)	V1236A	possibly damaging	Het
Gabbr2	A	G	4: 46,718,904 (GRCm39)	I38T	probably damaging	Het
Gdpd4	T	C	7: 97,615,505 (GRCm39)	I110T	probably damaging	Het
Gm4841	C	T	18: 60,402,852 (GRCm39)	A414T	possibly damaging	Het
Gtf3c4	A	T	2: 28,724,782 (GRCm39)	Y176N	probably damaging	Het
H2bc18	G	A	3: 96,177,060 (GRCm39)		probably null	Het
Igsf9b	T	C	9: 27,230,612 (GRCm39)	Y264H	probably damaging	Het
Itih4	A	T	14: 30,614,231 (GRCm39)	N394Y	probably damaging	Het
Kmt2c	T	C	5: 25,500,605 (GRCm39)	T3815A	possibly damaging	Het
Lrwd1	T	C	5: 136,152,254 (GRCm39)		probably null	Het
Mc3r	A	G	2: 172,091,711 (GRCm39)	K311R	probably benign	Het
Myb	T	C	10: 21,032,259 (GRCm39)	T41A	possibly damaging	Het
Nfix	T	C	8: 85,454,554 (GRCm39)	D201G	probably damaging	Het
Nos1	T	C	5: 118,085,512 (GRCm39)	V1280A	probably damaging	Het
Or51a5	A	C	7: 102,771,782 (GRCm39)	S66A	probably benign	Het
Or8a1b	T	C	9: 37,623,168 (GRCm39)	M136V	probably benign	Het
Pcdh15	A	G	10: 74,178,488 (GRCm39)	T582A	probably damaging	Het
Pcdhb12	C	A	18: 37,570,375 (GRCm39)	A507E	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pkp2	C	A	16: 16,087,575 (GRCm39)	A753E	probably damaging	Het
Pnpla6	T	C	8: 3,567,081 (GRCm39)	L33P	probably damaging	Het
Pot1b	C	T	17: 55,973,400 (GRCm39)		probably benign	Het
Prr5l	T	C	2: 101,588,886 (GRCm39)	E88G	possibly damaging	Het
Prss57	G	A	10: 79,621,699 (GRCm39)	H97Y	probably damaging	Het
Rttn	C	T	18: 88,991,813 (GRCm39)	Q131*	probably null	Het
Scaf11	G	T	15: 96,316,176 (GRCm39)	S1129R	possibly damaging	Het
Slc25a20	T	A	9: 108,559,189 (GRCm39)	M185K	possibly damaging	Het
Sorbs3	T	A	14: 70,445,021 (GRCm39)	E19V	probably damaging	Het
Srgap2	A	T	1: 131,217,253 (GRCm39)	C1020S	probably benign	Het
Thoc2l	T	C	5: 104,666,875 (GRCm39)	S466P	probably benign	Het
Tmem109	T	C	19: 10,849,205 (GRCm39)	R217G	possibly damaging	Het
Trio	A	T	15: 27,732,980 (GRCm39)	I2967N	probably damaging	Het
Vars2	T	C	17: 35,968,191 (GRCm39)	E899G	probably benign	Het
Vmn2r109	A	G	17: 20,774,842 (GRCm39)		probably benign	Het
Vps53	A	G	11: 75,973,485 (GRCm39)	F170L	probably damaging	Het
Zc2hc1a	G	A	3: 7,591,422 (GRCm39)	S149N	possibly damaging	Het
Zfp820	A	G	17: 22,042,817 (GRCm39)		probably benign	Het
Zhx3	A	C	2: 160,622,629 (GRCm39)	F513V	probably damaging	Het

Other mutations in Plekha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Plekha3	APN	2	76,517,047 (GRCm39)	missense	probably damaging	1.00
IGL02423:Plekha3	APN	2	76,510,524 (GRCm39)	missense	probably damaging	1.00
R1742:Plekha3	UTSW	2	76,513,223 (GRCm39)	missense	possibly damaging	0.47
R2100:Plekha3	UTSW	2	76,523,007 (GRCm39)	missense	probably benign	0.03
R4812:Plekha3	UTSW	2	76,516,975 (GRCm39)	missense	probably damaging	0.99
R4934:Plekha3	UTSW	2	76,510,571 (GRCm39)	missense	possibly damaging	0.53
R6724:Plekha3	UTSW	2	76,517,745 (GRCm39)	missense	probably damaging	0.99
R7162:Plekha3	UTSW	2	76,523,110 (GRCm39)	critical splice donor site	probably null
R8121:Plekha3	UTSW	2	76,516,992 (GRCm39)	missense	probably damaging	1.00
R8966:Plekha3	UTSW	2	76,523,006 (GRCm39)	missense	probably benign	0.01
Z1177:Plekha3	UTSW	2	76,517,092 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AAATGTCAGGAGCACGTTGCCC -3'
(R):5'- ATTACTGAAAGCGGCCAGGCACAC -3'

Sequencing Primer
(F):5'- GCCAGTGATGCAGAGCTTAC -3'
(R):5'- GCACACTTATGCTTTGAGAGCAG -3'

Posted On

2013-11-07