Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Plekha3'

529736

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

044842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76505625-76527172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76517745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 190 (H190Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107551 (fasta)

Gene Model

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

AlphaFold

Q9ERS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000111920
AA Change: H190Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107551
Gene: ENSMUSG00000002733
AA Change: H190Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125119

Meta Mutation Damage Score

0.0685

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,665,445 (GRCm39)	T619S	probably benign	Het
Adgra2	G	A	8: 27,604,210 (GRCm39)	A467T	possibly damaging	Het
Alox5	A	T	6: 116,391,509 (GRCm39)	I416N	probably damaging	Het
Blmh	A	G	11: 76,862,733 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,255,973 (GRCm39)	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728 (GRCm39)	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,706,874 (GRCm39)	T2080A	unknown	Het
Crybg3	A	T	16: 59,364,501 (GRCm39)	C2374S	probably benign	Het
Csmd2	A	G	4: 128,457,164 (GRCm39)	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,518,180 (GRCm39)	D1809V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,728,602 (GRCm39)	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,736,817 (GRCm39)	V319D	probably damaging	Het
Eif1ad6	A	T	12: 87,668,754 (GRCm39)	I129F	unknown	Het
Ercc6	A	T	14: 32,288,288 (GRCm39)	E820V	probably benign	Het
Fip1l1	T	G	5: 74,752,435 (GRCm39)	V378G	probably damaging	Het
Gabrg1	T	A	5: 70,911,552 (GRCm39)	Y358F	possibly damaging	Het
Gcn1	T	G	5: 115,747,217 (GRCm39)		probably null	Het
Gm11011	T	A	2: 169,429,402 (GRCm39)	T28S	unknown	Het
Guf1	C	A	5: 69,723,736 (GRCm39)	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,192,719 (GRCm39)	E223G	probably benign	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ipo8	A	T	6: 148,711,473 (GRCm39)		probably null	Het
Isl2	A	G	9: 55,448,572 (GRCm39)	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,780,664 (GRCm39)	Y512C	probably damaging	Het
Kifc1	T	A	17: 34,105,707 (GRCm39)		probably null	Het
Klhdc10	A	G	6: 30,446,640 (GRCm39)	D183G	probably damaging	Het
Klra5	T	A	6: 129,883,643 (GRCm39)	K71N	probably benign	Het
Lrp6	T	C	6: 134,463,504 (GRCm39)	H559R	possibly damaging	Het
Maml3	T	C	3: 51,763,296 (GRCm39)	N556S	probably damaging	Het
Man2a1	A	G	17: 65,038,264 (GRCm39)	I83V	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,786 (GRCm39)	S293P	probably damaging	Het
Nalcn	A	G	14: 123,535,479 (GRCm39)	S1282P	probably damaging	Het
Npepps	A	T	11: 97,096,828 (GRCm39)		probably benign	Het
Or4a72	A	T	2: 89,405,309 (GRCm39)	F254I	probably benign	Het
Or4c108	T	G	2: 88,803,612 (GRCm39)	I208L	probably benign	Het
Or8u10	A	T	2: 85,915,701 (GRCm39)	V140E	possibly damaging	Het
Or9m1	T	G	2: 87,733,946 (GRCm39)	S25R	probably benign	Het
Pkn3	C	A	2: 29,980,562 (GRCm39)	R818S	possibly damaging	Het
Ppp2r3c	A	T	12: 55,335,281 (GRCm39)	S261T	probably benign	Het
Ptprj	T	C	2: 90,281,195 (GRCm39)	D1015G	probably benign	Het
Pus10	T	C	11: 23,679,037 (GRCm39)	M503T	possibly damaging	Het
Pvr	T	C	7: 19,652,604 (GRCm39)	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,289,450 (GRCm39)	R653G	probably benign	Het
Semp2l2a	A	T	8: 13,887,083 (GRCm39)	L336Q	probably damaging	Het
Serpina1a	G	T	12: 103,826,679 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,416,656 (GRCm39)	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,110,928 (GRCm39)	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,779,726 (GRCm39)	I30T	probably benign	Het
Spz1	A	T	13: 92,711,992 (GRCm39)	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,330,492 (GRCm39)	R259G	probably damaging	Het
Top1	G	A	2: 160,554,616 (GRCm39)	V456M	probably damaging	Het
Tpcn2	G	A	7: 144,810,257 (GRCm39)	A649V	probably benign	Het
Trank1	C	G	9: 111,194,984 (GRCm39)	R1003G	probably damaging	Het
Tril	T	A	6: 53,796,559 (GRCm39)	H221L	possibly damaging	Het
Unc79	C	T	12: 103,071,120 (GRCm39)	T1305I	probably damaging	Het
Unc80	C	T	1: 66,722,350 (GRCm39)	A2988V	possibly damaging	Het
Vinac1	A	C	2: 128,879,976 (GRCm39)	V650G	probably benign	Het
Vmn1r81	A	T	7: 11,994,599 (GRCm39)	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,084,112 (GRCm39)	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,452,093 (GRCm39)	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,084,774 (GRCm39)	T624I	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
R0882:Plekha3	UTSW	2	76,513,142 (GRCm39)	missense	possibly damaging	0.67
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
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'- CTGATGACATGGGGTTGAGC -3'
(R):5'- AAGGCATTCACTCTCGCTCC -3'

Sequencing Primer
(F):5'- ACATGGGGTTGAGCATGAGTC -3'
(R):5'- TCTAGACTACTGATGAGCTCCAGG -3'

Posted On

2018-08-01