Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02530:Plekhb2'

297269

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 #

IGL02530

Quality Score

Status

Chromosome

Chromosomal Location

34889057-34918661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34916022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 187 (V187A)

Ref Sequence

ENSEMBL: ENSMUSP00000027297 (fasta)

Gene Model

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

AlphaFold

Q9QZC7

PDB Structure

Solution structure of the PH domain of Evectin-2 from mouse [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027297
AA Change: V187A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027297
Gene: ENSMUSG00000026123
AA Change: V187A

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 benign
Transcript: ENSMUST00000156687

SMART Domains

Protein: ENSMUSP00000140475
Gene: ENSMUSG00000026123

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191722

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,559,124 (GRCm39)	F305L	probably damaging	Het
Ankrd12	T	C	17: 66,291,398 (GRCm39)	H1345R	probably benign	Het
Bloc1s5	A	T	13: 38,787,859 (GRCm39)	M175K	probably damaging	Het
C9	T	A	15: 6,526,613 (GRCm39)	M549K	probably benign	Het
Cfap52	A	G	11: 67,845,007 (GRCm39)		probably benign	Het
Cntnap2	A	T	6: 46,998,670 (GRCm39)	K907N	possibly damaging	Het
Cox8c	T	A	12: 102,865,752 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26b1	A	T	6: 84,551,294 (GRCm39)	N307K	possibly damaging	Het
Cyp2s1	T	C	7: 25,515,849 (GRCm39)		probably benign	Het
Dpysl2	G	A	14: 67,061,847 (GRCm39)	T253I	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Egflam	T	A	15: 7,252,293 (GRCm39)	I835F	probably damaging	Het
Eif5a	A	T	11: 69,809,989 (GRCm39)	H51Q	possibly damaging	Het
Fancd2	T	A	6: 113,539,422 (GRCm39)	I637N	probably damaging	Het
Gpr173	T	A	X: 151,130,092 (GRCm39)	H127L	probably damaging	Het
Klc3	T	C	7: 19,130,969 (GRCm39)	I203V	probably benign	Het
Lsg1	T	C	16: 30,390,060 (GRCm39)	K352E	probably benign	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med12l	G	T	3: 58,984,510 (GRCm39)	D483Y	probably damaging	Het
Mlh1	A	G	9: 111,058,943 (GRCm39)	Y694H	probably benign	Het
Mmrn1	A	G	6: 60,935,160 (GRCm39)	R219G	possibly damaging	Het
Nsd1	T	C	13: 55,450,646 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,555 (GRCm39)	M136L	possibly damaging	Het
Or8k33	C	T	2: 86,384,224 (GRCm39)	M81I	possibly damaging	Het
Pax3	A	T	1: 78,098,424 (GRCm39)	S322T	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Pot1a	A	T	6: 25,794,592 (GRCm39)	F31I	probably damaging	Het
Rpap1	A	T	2: 119,613,720 (GRCm39)		probably benign	Het
Scmh1	T	A	4: 120,385,343 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,560,522 (GRCm39)	T1251A	probably damaging	Het
Siglecf	T	C	7: 43,001,634 (GRCm39)	V148A	probably benign	Het
Slit3	A	G	11: 35,598,969 (GRCm39)	*1524W	probably null	Het
Son	C	A	16: 91,455,359 (GRCm39)	P1369T	possibly damaging	Het
Spp2	T	A	1: 88,338,868 (GRCm39)	L25*	probably null	Het
Sptbn4	T	C	7: 27,090,976 (GRCm39)	Q1405R	probably damaging	Het
Traf3ip2	G	T	10: 39,522,902 (GRCm39)	A463S	possibly damaging	Het
Trappc11	T	C	8: 47,960,617 (GRCm39)	E27G	probably damaging	Het
Vmn2r12	C	T	5: 109,233,858 (GRCm39)	V785I	probably damaging	Het
Zc3h8	A	G	2: 128,785,846 (GRCm39)		probably benign	Het
Zfp57	T	A	17: 37,317,056 (GRCm39)	S45T	probably damaging	Het

Other mutations in Plekhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01665:Plekhb2	APN	1	34,908,411 (GRCm39)	missense	probably damaging	0.98
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

2015-04-16