Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01370:Plekho2'

76089

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: 0.208) question?

Stock #

IGL01370

Quality Score

Status

Chromosome

Chromosomal Location

65459980-65487322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65465912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 159 (H159N)

Ref Sequence

ENSEMBL: ENSMUSP00000063677 (fasta)

Gene Model

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

AlphaFold

Q8K124

Predicted Effect

probably damaging
Transcript: ENSMUST00000068944
AA Change: H159N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: H159N

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,423,503 (GRCm39)		probably benign	Het
Add1	C	T	5: 34,787,859 (GRCm39)	T210I	probably damaging	Het
Ajm1	T	C	2: 25,468,969 (GRCm39)	E314G	possibly damaging	Het
Alpk2	A	T	18: 65,483,662 (GRCm39)	D115E	possibly damaging	Het
Ankrd36	C	T	11: 5,534,019 (GRCm39)	T290I	probably benign	Het
Bltp1	T	A	3: 37,001,904 (GRCm39)	I1283N	probably benign	Het
Castor2	T	C	5: 134,167,111 (GRCm39)	V323A	probably benign	Het
Ccnt2	T	C	1: 127,731,250 (GRCm39)	F709S	possibly damaging	Het
Erc1	T	C	6: 119,801,426 (GRCm39)	E197G	probably damaging	Het
Ftsj3	G	T	11: 106,143,145 (GRCm39)	R390S	possibly damaging	Het
Gabrb3	G	A	7: 57,466,226 (GRCm39)	A347T	probably benign	Het
Gde1	A	G	7: 118,288,383 (GRCm39)		probably benign	Het
Jhy	A	T	9: 40,828,438 (GRCm39)	N489K	probably benign	Het
Kiss1r	A	G	10: 79,754,658 (GRCm39)	T51A	probably benign	Het
Lama5	T	C	2: 179,839,193 (GRCm39)	S772G	possibly damaging	Het
Lamb2	G	T	9: 108,364,932 (GRCm39)		probably null	Het
Loxl3	A	G	6: 83,026,468 (GRCm39)	T475A	probably damaging	Het
Lpl	A	T	8: 69,340,220 (GRCm39)	S72C	possibly damaging	Het
Lrrc74a	A	T	12: 86,801,204 (GRCm39)	I352F	probably damaging	Het
Mcoln2	T	C	3: 145,887,585 (GRCm39)	I334T	possibly damaging	Het
Mettl8	T	G	2: 70,812,383 (GRCm39)	D49A	probably damaging	Het
Ms4a3	T	A	19: 11,610,245 (GRCm39)	T106S	probably benign	Het
Obscn	T	A	11: 58,886,389 (GRCm39)		probably null	Het
Or14j2	T	C	17: 37,885,412 (GRCm39)	I301V	probably null	Het
Or1o11	C	A	17: 37,756,605 (GRCm39)	H64Q	probably benign	Het
Or1p1c	G	A	11: 74,160,325 (GRCm39)	V37I	probably benign	Het
Or4n4	G	T	14: 50,519,689 (GRCm39)	T7K	probably damaging	Het
Or5b107	A	T	19: 13,142,663 (GRCm39)	Y95F	possibly damaging	Het
Pcnx2	T	C	8: 126,528,222 (GRCm39)	K1333E	probably damaging	Het
Pias3	T	C	3: 96,610,891 (GRCm39)	F364L	probably damaging	Het
Piezo2	T	A	18: 63,155,531 (GRCm39)	I2438F	probably damaging	Het
Plcb3	A	C	19: 6,940,192 (GRCm39)	V465G	probably damaging	Het
Polr2e	A	G	10: 79,872,681 (GRCm39)		probably benign	Het
Rab6b	G	T	9: 103,041,094 (GRCm39)	V163L	probably benign	Het
Rabep1	A	G	11: 70,816,607 (GRCm39)	M597V	probably benign	Het
Rbm15	A	G	3: 107,238,326 (GRCm39)	S691P	probably damaging	Het
Sec24b	G	A	3: 129,801,253 (GRCm39)		probably benign	Het
Slc6a18	A	G	13: 73,815,150 (GRCm39)	I386T	probably damaging	Het
Stxbp3	A	C	3: 108,704,741 (GRCm39)	Y497*	probably null	Het
Styk1	T	C	6: 131,278,615 (GRCm39)	K353R	probably damaging	Het
Tbc1d10b	A	T	7: 126,798,253 (GRCm39)	H629Q	probably damaging	Het
Tbc1d5	T	A	17: 51,273,755 (GRCm39)	I119F	probably benign	Het
Tcp11l1	G	T	2: 104,536,831 (GRCm39)	D11E	probably benign	Het
Tfap2d	A	G	1: 19,175,009 (GRCm39)	Y154C	probably damaging	Het
Tgm5	T	C	2: 120,884,018 (GRCm39)	N325S	probably benign	Het
Thbs2	T	C	17: 14,910,327 (GRCm39)	K91E	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,715 (GRCm39)	F763L	probably benign	Het
Washc4	A	G	10: 83,394,694 (GRCm39)	E308G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	Het

Other mutations in Plekho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07