Mutagenetix > Incidental Mutation

Incidental Mutation 'R6449:Plekhb2'

519273

Institutional Source

Beutler Lab

Gene Symbol

Plekhb2

Ensembl Gene

ENSMUSG00000026123

Gene Name

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

Synonyms

Phdc, evt-2, 2310009M15Rik

MMRRC Submission

044585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6449 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34889057-34918661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34903564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 102 (F102L)

Ref Sequence

ENSEMBL: ENSMUSP00000140475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027297] [ENSMUST00000152654] [ENSMUST00000156687]

AlphaFold

Q9QZC7

Predicted Effect

probably benign
Transcript: ENSMUST00000027297
AA Change: F102L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027297
Gene: ENSMUSG00000026123
AA Change: F102L

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: ENSMUST00000152654

SMART Domains

Protein: ENSMUSP00000116777
Gene: ENSMUSG00000026123

Domain	Start	End	E-Value	Type
Pfam:PH	3	63	1.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156687
AA Change: F102L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140475
Gene: ENSMUSG00000026123
AA Change: F102L

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

Meta Mutation Damage Score

0.0785

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Aadacl2fm2	A	T	3: 59,652,972 (GRCm39)	D137V	probably damaging	Het
Adam28	T	C	14: 68,868,116 (GRCm39)	T410A	probably benign	Het
Ano10	T	C	9: 122,030,754 (GRCm39)		probably benign	Het
Bmpr2	T	A	1: 59,906,596 (GRCm39)	V563E	probably damaging	Het
Ccdc47	A	G	11: 106,095,811 (GRCm39)	L295P	probably damaging	Het
Cdhr1	T	C	14: 36,812,554 (GRCm39)	T210A	probably benign	Het
Col16a1	G	A	4: 129,960,486 (GRCm39)	A408T	unknown	Het
Csnk1g2	A	G	10: 80,475,906 (GRCm39)	K415R	probably damaging	Het
Cyp2c29	G	T	19: 39,279,311 (GRCm39)	A103S	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	T	18: 20,527,498 (GRCm39)	I210F	possibly damaging	Het
Fhod1	T	A	8: 106,056,869 (GRCm39)	D1002V	probably damaging	Het
Gm5592	G	A	7: 40,938,010 (GRCm39)	V431I	probably benign	Het
Gtpbp4	A	T	13: 9,040,773 (GRCm39)	C174*	probably null	Het
Il2ra	A	G	2: 11,685,173 (GRCm39)	K170E	probably benign	Het
Itch	T	C	2: 155,005,315 (GRCm39)		probably benign	Het
Jazf1	A	C	6: 52,754,640 (GRCm39)	D145E	probably damaging	Het
Kank2	G	T	9: 21,691,858 (GRCm39)	A469E	possibly damaging	Het
Kirrel3	A	G	9: 34,902,269 (GRCm39)	I125V	probably benign	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap27-1	C	T	16: 88,467,941 (GRCm39)	S201N	probably benign	Het
Map3k20	T	C	2: 72,228,758 (GRCm39)	S326P	probably damaging	Het
Mkks	C	A	2: 136,716,206 (GRCm39)	V565F	probably damaging	Het
Ntaq1	T	G	15: 58,013,994 (GRCm39)		probably null	Het
Or5c1	A	G	2: 37,221,837 (GRCm39)	D26G	possibly damaging	Het
Or5k8	A	T	16: 58,644,889 (GRCm39)	I61N	probably damaging	Het
Or5w11	T	C	2: 87,459,493 (GRCm39)	S229P	possibly damaging	Het
Pacsin3	A	T	2: 91,090,514 (GRCm39)		probably null	Het
Pdcd7	A	G	9: 65,264,057 (GRCm39)	E434G	probably damaging	Het
Ppp1r9a	A	G	6: 5,057,458 (GRCm39)	D191G	probably benign	Het
Psmd3	A	G	11: 98,576,466 (GRCm39)	T123A	probably benign	Het
Ptprq	C	T	10: 107,541,444 (GRCm39)	V361M	probably benign	Het
Raver2	A	G	4: 100,990,869 (GRCm39)	D414G	probably benign	Het
Rnf123	G	A	9: 107,933,252 (GRCm39)	H1162Y	probably benign	Het
Sema4f	A	G	6: 82,894,851 (GRCm39)	V448A	probably benign	Het
Tcf12	A	T	9: 71,775,550 (GRCm39)	M400K	probably damaging	Het
Tcl1b2	G	T	12: 105,119,261 (GRCm39)	E50*	probably null	Het
Thada	A	C	17: 84,736,601 (GRCm39)	D893E	probably benign	Het
Trim24	G	A	6: 37,880,587 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,071,050 (GRCm39)	S1308P	probably benign	Het
Ubtfl1	T	A	9: 18,320,925 (GRCm39)	I151N	possibly damaging	Het
Vmn2r70	A	T	7: 85,214,157 (GRCm39)	F332I	probably damaging	Het
Zfhx4	A	G	3: 5,307,488 (GRCm39)	D238G	probably damaging	Het
Zfp639	A	G	3: 32,573,810 (GRCm39)	H145R	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAGCCATCAAGTGAAGAG -3'
(R):5'- TGTTCTGCTCAGGAAGACAGG -3'

Sequencing Primer
(F):5'- AGCTATCTATCTACGCTCATGGGAG -3'
(R):5'- TCAGGAAGACAGGAGACCCTC -3'

Posted On

2018-05-24