Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02938:Plekho2'

364398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekho2

Ensembl Gene

ENSMUSG00000050721

Gene Name

pleckstrin homology domain containing, family O member 2

Synonyms

Plekhq1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

IGL02938

Quality Score

Status

Chromosome

Chromosomal Location

65459980-65487322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65465902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 162 (E162G)

Ref Sequence

ENSEMBL: ENSMUSP00000063677 (fasta)

Gene Model

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

AlphaFold

Q8K124

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068944
AA Change: E162G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: E162G

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: ENSMUST00000213652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214740

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,180,979 (GRCm39)	T1152A	possibly damaging	Het
Adgra3	T	C	5: 50,118,659 (GRCm39)	D963G	probably benign	Het
Adrm1	T	A	2: 179,817,395 (GRCm39)	D287E	probably damaging	Het
Agxt	A	G	1: 93,072,831 (GRCm39)	D396G	probably damaging	Het
Ankle1	C	T	8: 71,858,896 (GRCm39)	A43V	probably damaging	Het
Apc	A	G	18: 34,448,281 (GRCm39)	I1692V	probably damaging	Het
Arhgef18	T	C	8: 3,500,802 (GRCm39)	V588A	probably benign	Het
Ccdc62	T	A	5: 124,072,247 (GRCm39)	V4E	probably benign	Het
Cdh16	A	T	8: 105,343,561 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,696 (GRCm39)	C276S	probably damaging	Het
Cyp2c29	T	A	19: 39,275,567 (GRCm39)	D2E	probably damaging	Het
Ddx31	T	A	2: 28,749,035 (GRCm39)	V277E	possibly damaging	Het
Defa35	C	T	8: 21,555,930 (GRCm39)		probably benign	Het
Dhx9	A	T	1: 153,340,376 (GRCm39)	D707E	probably benign	Het
Dnmt1	A	G	9: 20,852,669 (GRCm39)	S28P	probably benign	Het
Dock5	A	T	14: 67,994,667 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,928,365 (GRCm39)		probably benign	Het
Egln1	A	G	8: 125,640,754 (GRCm39)		probably null	Het
Esr1	T	A	10: 4,733,872 (GRCm39)	M224K	probably damaging	Het
Flt1	A	G	5: 147,615,109 (GRCm39)	I279T	possibly damaging	Het
Fzd6	T	C	15: 38,897,285 (GRCm39)	I478T	probably benign	Het
Glb1l3	A	G	9: 26,738,055 (GRCm39)	V368A	probably benign	Het
Gltpd2	T	C	11: 70,410,637 (GRCm39)	F5S	probably damaging	Het
Helz	G	A	11: 107,577,264 (GRCm39)	E1872K	unknown	Het
Irak3	A	G	10: 120,018,429 (GRCm39)		probably null	Het
Itsn2	A	T	12: 4,747,216 (GRCm39)	I1206F	probably damaging	Het
Lingo3	A	T	10: 80,670,988 (GRCm39)	V314E	probably benign	Het
Lrrc8a	C	T	2: 30,145,698 (GRCm39)	R171W	probably damaging	Het
Lsg1	T	C	16: 30,390,024 (GRCm39)	T364A	probably benign	Het
Mks1	T	C	11: 87,753,478 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,872,729 (GRCm39)	F89Y	probably damaging	Het
Myo1b	A	C	1: 51,840,337 (GRCm39)		probably null	Het
Myo1h	T	C	5: 114,497,000 (GRCm39)	Y819H	probably damaging	Het
Nedd1	G	A	10: 92,525,519 (GRCm39)	Q597*	probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or5an9	A	G	19: 12,187,046 (GRCm39)	T39A	probably benign	Het
Pbrm1	T	C	14: 30,789,761 (GRCm39)	S792P	probably damaging	Het
Pccb	T	C	9: 100,866,449 (GRCm39)	N457S	probably benign	Het
Pou1f1	A	T	16: 65,320,430 (GRCm39)	T40S	probably benign	Het
Pwwp2b	T	C	7: 138,836,059 (GRCm39)	V500A	probably damaging	Het
Pygo1	C	T	9: 72,852,020 (GRCm39)	A69V	probably damaging	Het
Slc18a3	A	C	14: 32,185,772 (GRCm39)	Y204D	probably damaging	Het
Stab2	A	G	10: 86,707,785 (GRCm39)	V261A	possibly damaging	Het
Tacc2	A	T	7: 130,330,671 (GRCm39)	K208N	probably damaging	Het
Tbc1d4	T	C	14: 101,738,536 (GRCm39)	D403G	probably damaging	Het
Tbc1d9	T	A	8: 83,995,696 (GRCm39)		probably benign	Het
Tdrkh	T	C	3: 94,336,657 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,964,982 (GRCm39)	L180H	probably damaging	Het
Tm4sf19	T	A	16: 32,224,733 (GRCm39)	L27Q	probably damaging	Het
Tmtc2	A	G	10: 105,249,157 (GRCm39)	V192A	probably damaging	Het
Ttn	C	A	2: 76,543,328 (GRCm39)	M33219I	probably damaging	Het
Vmn1r52	A	T	6: 90,156,295 (GRCm39)	M200L	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,263 (GRCm39)	H739L	probably benign	Het
Wdr20rt	T	C	12: 65,272,692 (GRCm39)	F52L	probably benign	Het
Zbtb38	C	T	9: 96,569,227 (GRCm39)	G619D	probably benign	Het
Zfyve19	T	C	2: 119,041,999 (GRCm39)	V156A	probably benign	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
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
R6529:Plekho2	UTSW	9	65,480,383 (GRCm39)	missense	probably benign	0.03
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

Posted On

2015-12-18