Mutagenetix > Incidental Mutation

Incidental Mutation 'R6529:Plekho2'

522201

Institutional Source

Beutler Lab

Gene Symbol

Plekho2

Ensembl Gene

ENSMUSG00000050721

Gene Name

pleckstrin homology domain containing, family O member 2

Synonyms

Plekhq1

MMRRC Submission

044655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R6529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65459980-65487322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65480383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 14 (R14H)

Ref Sequence

ENSEMBL: ENSMUSP00000063677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068944]

AlphaFold

Q8K124

Predicted Effect

probably benign
Transcript: ENSMUST00000068944
AA Change: R14H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: R14H

Domain	Start	End	E-Value	Type
PH	19	122	3.15e-11	SMART
low complexity region	141	157	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
low complexity region	305	313	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214740

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	T	7: 78,739,479 (GRCm39)	M296L	probably benign	Het
Atxn2	T	C	5: 121,949,677 (GRCm39)		probably null	Het
B3galnt2	G	T	13: 14,170,377 (GRCm39)	R242S	probably benign	Het
Bltp3a	A	G	17: 28,098,750 (GRCm39)	I218M	possibly damaging	Het
Casz1	G	A	4: 149,022,646 (GRCm39)	E571K	probably damaging	Het
Ccdc163	A	G	4: 116,566,121 (GRCm39)		probably null	Het
Cd109	A	G	9: 78,619,907 (GRCm39)	D1383G	probably damaging	Het
Cd200r1	A	G	16: 44,610,065 (GRCm39)	T95A	possibly damaging	Het
Chd2	T	C	7: 73,153,191 (GRCm39)	E219G	possibly damaging	Het
Cibar1	A	G	4: 12,168,978 (GRCm39)	V175A	probably damaging	Het
Dnah14	T	A	1: 181,494,034 (GRCm39)	V1730D	probably damaging	Het
Eps8	G	A	6: 137,491,335 (GRCm39)	H348Y	possibly damaging	Het
Fbxo2	A	T	4: 148,249,511 (GRCm39)	D187V	probably damaging	Het
Fsip2	A	T	2: 82,812,657 (GRCm39)	Y2992F	probably benign	Het
Gle1	A	T	2: 29,825,539 (GRCm39)	T10S	possibly damaging	Het
Got2	T	C	8: 96,615,013 (GRCm39)		probably benign	Het
Gtf3c6	T	C	10: 40,127,251 (GRCm39)	T34A	probably benign	Het
H4c11	G	T	13: 21,919,476 (GRCm39)	V71F	possibly damaging	Het
Klf15	C	T	6: 90,444,394 (GRCm39)	T323I	probably damaging	Het
Krtap5-3	C	A	7: 141,756,079 (GRCm39)	C305*	probably null	Het
Map2k6	A	T	11: 110,383,388 (GRCm39)	D99V	probably damaging	Het
Nckap5l	G	T	15: 99,324,475 (GRCm39)	P676Q	probably benign	Het
Nup188	A	T	2: 30,216,466 (GRCm39)	T757S	possibly damaging	Het
Or10ak13	C	T	4: 118,638,907 (GRCm39)	V292I	probably benign	Het
Or51q1c	T	C	7: 103,653,133 (GRCm39)	V217A	probably benign	Het
Peg3	C	A	7: 6,711,071 (GRCm39)	A1384S	probably damaging	Het
Qsox2	A	T	2: 26,107,753 (GRCm39)	C247S	probably damaging	Het
Slc25a13	A	G	6: 6,073,451 (GRCm39)	V469A	probably benign	Het
Slitrk3	T	C	3: 72,958,551 (GRCm39)	T74A	probably benign	Het
Spmip7	T	C	11: 11,465,009 (GRCm39)	F120S	possibly damaging	Het
Sult1a1	T	C	7: 126,274,310 (GRCm39)	T91A	probably benign	Het
Sult3a2	T	C	10: 33,655,733 (GRCm39)	Y82C	probably damaging	Het
Taf1b	A	T	12: 24,606,650 (GRCm39)	H490L	possibly damaging	Het
Trrap	T	A	5: 144,771,014 (GRCm39)	H2804Q	probably benign	Het
Usp8	A	G	2: 126,567,298 (GRCm39)	I106V	probably benign	Het
Wdcp	T	A	12: 4,901,143 (GRCm39)	V333D	probably damaging	Het
Wdr46	T	A	17: 34,168,120 (GRCm39)	L564Q	possibly damaging	Het
Wrn	T	C	8: 33,826,004 (GRCm39)		probably null	Het
Zfp664	C	T	5: 124,963,352 (GRCm39)	H249Y	probably damaging	Het
Zfp975	A	C	7: 42,311,325 (GRCm39)	H429Q	possibly damaging	Het

Other mutations in Plekho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Plekho2	APN	9	65,465,912 (GRCm39)	missense	probably damaging	1.00
IGL02938:Plekho2	APN	9	65,465,902 (GRCm39)	missense	possibly damaging	0.88
IGL03354:Plekho2	APN	9	65,466,703 (GRCm39)	missense	probably null	1.00
IGL03369:Plekho2	APN	9	65,466,776 (GRCm39)	missense	probably damaging	1.00
R0108:Plekho2	UTSW	9	65,466,705 (GRCm39)	missense	probably damaging	1.00
R0419:Plekho2	UTSW	9	65,464,334 (GRCm39)	missense	possibly damaging	0.79
R0930:Plekho2	UTSW	9	65,464,105 (GRCm39)	missense	possibly damaging	0.93
R1981:Plekho2	UTSW	9	65,465,974 (GRCm39)	missense	probably damaging	1.00
R5308:Plekho2	UTSW	9	65,465,957 (GRCm39)	missense	probably damaging	0.97
R5650:Plekho2	UTSW	9	65,464,018 (GRCm39)	missense	probably benign	0.02
R6741:Plekho2	UTSW	9	65,471,197 (GRCm39)	missense	probably damaging	1.00
R7138:Plekho2	UTSW	9	65,463,635 (GRCm39)	missense	probably benign	0.01
R7684:Plekho2	UTSW	9	65,466,816 (GRCm39)	splice site	probably null
R8698:Plekho2	UTSW	9	65,463,554 (GRCm39)	missense	probably damaging	1.00
R8717:Plekho2	UTSW	9	65,464,058 (GRCm39)	missense	probably benign	0.00
R8845:Plekho2	UTSW	9	65,465,963 (GRCm39)	missense	probably damaging	1.00
R9331:Plekho2	UTSW	9	65,463,866 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCAGCCACAGTCTTAGGAG -3'
(R):5'- AGTTTAATAAACACCAGGAGGCAC -3'

Sequencing Primer
(F):5'- CCACAGTCTTAGGAGGCTCC -3'
(R):5'- CCGAGAGACCTGCTTTGAATTTCG -3'

Posted On

2018-06-06