Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01665:Plekhb2'

103292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhb2

Ensembl Gene

ENSMUSG00000026123

Gene Name

pleckstrin homology domain containing, family B (evectins) member 2

Synonyms

Phdc, evt-2, 2310009M15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01665

Quality Score

Status

Chromosome

Chromosomal Location

34889057-34918661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34908411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 152 (Y152N)

Ref Sequence

ENSEMBL: ENSMUSP00000140475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027297] [ENSMUST00000156687]

AlphaFold

Q9QZC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027297
AA Change: Y152N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027297
Gene: ENSMUSG00000026123
AA Change: Y152N

Domain	Start	End	E-Value	Type
PH	3	111	3.65e-7	SMART
low complexity region	126	140	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	164	183	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000156687
AA Change: Y152N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140475
Gene: ENSMUSG00000026123
AA Change: Y152N

Domain	Start	End	E-Value	Type
PH	3	111	3.65e-7	SMART
low complexity region	126	140	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	165	176	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	T	A	9: 54,530,004 (GRCm39)	I231L	probably benign	Het
Adcyap1	T	A	17: 93,507,506 (GRCm39)	V22D	probably damaging	Het
Adgra3	T	C	5: 50,164,272 (GRCm39)	T236A	possibly damaging	Het
Adipor2	A	T	6: 119,338,887 (GRCm39)	L122H	probably benign	Het
Atp1a4	T	C	1: 172,074,291 (GRCm39)	I321V	probably benign	Het
Bhmt2	A	T	13: 93,799,661 (GRCm39)	Y258*	probably null	Het
C230029F24Rik	T	A	1: 49,377,253 (GRCm39)		noncoding transcript	Het
Ccpg1	T	A	9: 72,913,159 (GRCm39)	F232I	probably damaging	Het
Cd83	A	T	13: 43,955,153 (GRCm39)	T195S	probably benign	Het
Cdcp3	G	T	7: 130,848,386 (GRCm39)	G847*	probably null	Het
Cfap70	G	A	14: 20,453,186 (GRCm39)	T897M	probably damaging	Het
Cyp3a11	T	A	5: 145,805,475 (GRCm39)	M181L	probably benign	Het
Frem2	C	T	3: 53,457,083 (GRCm39)	V2090I	probably benign	Het
Gm45234	A	G	6: 124,723,571 (GRCm39)		probably benign	Het
Gm7964	T	A	7: 83,406,341 (GRCm39)		noncoding transcript	Het
Igsf9	T	A	1: 172,319,738 (GRCm39)	C39*	probably null	Het
Il1rap	A	T	16: 26,541,463 (GRCm39)	D568V	probably damaging	Het
Ints7	C	T	1: 191,345,331 (GRCm39)		probably benign	Het
Lsamp	C	T	16: 41,964,375 (GRCm39)	R250*	probably null	Het
Oit3	T	A	10: 59,274,731 (GRCm39)	D23V	probably damaging	Het
Pcdh17	T	A	14: 84,684,442 (GRCm39)	L303Q	probably damaging	Het
Pcdhb1	T	A	18: 37,400,450 (GRCm39)	N800K	probably benign	Het
Plce1	A	G	19: 38,513,331 (GRCm39)	D210G	probably benign	Het
Rbp3	T	C	14: 33,678,088 (GRCm39)	S679P	probably benign	Het
Rps6kc1	T	C	1: 190,643,854 (GRCm39)	T2A	possibly damaging	Het
Tmem167	T	A	13: 90,246,504 (GRCm39)	S9R	probably damaging	Het
Xpnpep1	A	T	19: 52,985,463 (GRCm39)	S522T	probably benign	Het

Other mutations in Plekhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02530:Plekhb2	APN	1	34,916,022 (GRCm39)	missense	possibly damaging	0.83
IGL02721:Plekhb2	APN	1	34,908,445 (GRCm39)	missense	probably benign	0.00
IGL02942:Plekhb2	APN	1	34,916,073 (GRCm39)	missense	probably damaging	0.96
R0022:Plekhb2	UTSW	1	34,905,320 (GRCm39)	splice site	probably benign
R0379:Plekhb2	UTSW	1	34,902,195 (GRCm39)	missense	probably damaging	1.00
R4151:Plekhb2	UTSW	1	34,903,564 (GRCm39)	missense	probably benign	0.00
R6449:Plekhb2	UTSW	1	34,903,564 (GRCm39)	missense	probably benign
R6927:Plekhb2	UTSW	1	34,915,982 (GRCm39)	splice site	probably null
R9015:Plekhb2	UTSW	1	34,916,046 (GRCm39)	missense	probably benign	0.00
R9549:Plekhb2	UTSW	1	34,902,552 (GRCm39)	missense	probably benign	0.04
Z1177:Plekhb2	UTSW	1	34,902,237 (GRCm39)	missense	probably benign	0.08

Posted On

2014-01-21