Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02483:Plekhh2'

295287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhh2

Ensembl Gene

ENSMUSG00000040852

Gene Name

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02483

Quality Score

Status

Chromosome

Chromosomal Location

84511895-84622142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84596260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1058 (F1058S)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047206]

AlphaFold

Q8C115

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047206
AA Change: F1058S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: F1058S

Domain	Start	End	E-Value	Type
coiled coil region	19	84	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
coiled coil region	137	174	N/A	INTRINSIC
low complexity region	427	442	N/A	INTRINSIC
low complexity region	579	593	N/A	INTRINSIC
low complexity region	612	651	N/A	INTRINSIC
low complexity region	657	666	N/A	INTRINSIC
PH	703	798	4.7e-19	SMART
PH	811	920	1.15e-4	SMART
MyTH4	954	1109	8.49e-39	SMART
B41	1116	1353	1.01e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	G	8: 83,725,253	I512L	probably damaging	Het
Ahnak	C	A	19: 9,003,308	T652N	probably benign	Het
Akr1b8	G	A	6: 34,363,794	A209T	probably damaging	Het
Arnt2	T	A	7: 84,251,397	H659L	probably damaging	Het
Cad	A	G	5: 31,060,826		probably null	Het
Car6	T	A	4: 150,196,129	N86I	probably damaging	Het
Cfap57	T	A	4: 118,581,105	E863V	probably damaging	Het
Cyp2c39	T	A	19: 39,536,787	I178N	probably damaging	Het
Cysltr1	C	A	X: 106,578,122	V253L	probably damaging	Het
Dgcr6	G	A	16: 18,065,174	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,319,080		probably null	Het
Erc2	T	A	14: 27,653,071	L82Q	probably damaging	Het
Ercc6l	T	C	X: 102,144,669	T745A	probably benign	Het
Fam192a	A	G	8: 94,588,766		probably benign	Het
Fmo4	A	G	1: 162,808,421	V54A	possibly damaging	Het
Foxd3	C	T	4: 99,657,028	S135F	probably damaging	Het
Fut7	T	A	2: 25,423,876	F21Y	possibly damaging	Het
Gata4	T	C	14: 63,200,461	T414A	probably benign	Het
Gm4950	A	T	18: 51,865,334	M183K	probably damaging	Het
Gmps	A	G	3: 64,014,352	D592G	probably damaging	Het
Hpd	A	T	5: 123,182,578		probably null	Het
Imp4	T	C	1: 34,444,275		probably null	Het
Itgbl1	A	T	14: 123,827,743		probably benign	Het
Kcnt2	T	C	1: 140,354,561		probably benign	Het
Kdr	C	T	5: 75,936,294		probably null	Het
Lca5	A	T	9: 83,423,117	I212N	probably damaging	Het
Lgr6	T	C	1: 135,001,691		probably benign	Het
Lrrc28	T	C	7: 67,617,983		probably benign	Het
Madd	T	G	2: 91,178,036	T174P	probably damaging	Het
Map3k8	A	G	18: 4,349,318		probably benign	Het
Mcm3	A	G	1: 20,803,572	S775P	possibly damaging	Het
Myh10	G	A	11: 68,802,168	A1393T	probably benign	Het
Nbas	C	T	12: 13,324,294	A541V	probably damaging	Het
Nbeal2	G	A	9: 110,625,995	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,194,734	T366S	probably benign	Het
Olfr117	A	G	17: 37,659,472	L287P	probably damaging	Het
Olfr1216	G	T	2: 89,013,203	T287N	probably damaging	Het
Olfr1335	C	T	4: 118,809,499	V122M	probably benign	Het
Oma1	C	T	4: 103,325,112	R271*	probably null	Het
Psen2	T	A	1: 180,235,061	M239L	probably damaging	Het
Rad50	A	G	11: 53,680,049	I794T	probably benign	Het
Rgs12	A	G	5: 35,030,517	E506G	probably damaging	Het
Rnpepl1	C	T	1: 92,915,907	P250S	probably damaging	Het
Sfr1	G	A	19: 47,732,788		probably benign	Het
Tmem184a	T	C	5: 139,813,077	E39G	probably benign	Het
Trim66	C	T	7: 109,477,630		probably benign	Het
Ugt2b35	A	G	5: 87,001,145	Y85C	possibly damaging	Het
Uts2r	G	T	11: 121,160,387	G26C	possibly damaging	Het
Vmn2r88	A	T	14: 51,414,154	E308D	probably benign	Het
Wdr61	T	C	9: 54,728,261	I19V	probably damaging	Het

Other mutations in Plekhh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Plekhh2	APN	17	84,521,775 (GRCm38)	missense	probably benign	0.00
IGL00514:Plekhh2	APN	17	84,596,306 (GRCm38)	critical splice donor site	probably null
IGL00773:Plekhh2	APN	17	84,606,868 (GRCm38)	missense	probably benign	0.01
IGL00985:Plekhh2	APN	17	84,563,928 (GRCm38)	missense	probably benign	0.00
IGL01116:Plekhh2	APN	17	84,606,928 (GRCm38)	missense	possibly damaging	0.94
IGL01394:Plekhh2	APN	17	84,557,430 (GRCm38)	missense	probably benign	0.24
IGL01419:Plekhh2	APN	17	84,583,552 (GRCm38)	splice site	probably benign
IGL01932:Plekhh2	APN	17	84,577,261 (GRCm38)	missense	probably benign	0.00
IGL02097:Plekhh2	APN	17	84,599,180 (GRCm38)	missense	possibly damaging	0.69
IGL02157:Plekhh2	APN	17	84,566,942 (GRCm38)	splice site	probably benign
IGL02163:Plekhh2	APN	17	84,590,795 (GRCm38)	missense	probably benign	0.45
IGL02237:Plekhh2	APN	17	84,575,785 (GRCm38)	missense	probably benign	0.00
IGL02322:Plekhh2	APN	17	84,589,466 (GRCm38)	nonsense	probably null
IGL02422:Plekhh2	APN	17	84,563,809 (GRCm38)	splice site	probably benign
IGL02493:Plekhh2	APN	17	84,606,963 (GRCm38)	critical splice donor site	probably null
IGL03007:Plekhh2	APN	17	84,574,960 (GRCm38)	missense	possibly damaging	0.65
R0003:Plekhh2	UTSW	17	84,557,392 (GRCm38)	missense	probably damaging	1.00
R0005:Plekhh2	UTSW	17	84,586,433 (GRCm38)	missense	probably benign	0.16
R0099:Plekhh2	UTSW	17	84,591,672 (GRCm38)	nonsense	probably null
R0331:Plekhh2	UTSW	17	84,586,366 (GRCm38)	missense	possibly damaging	0.81
R0883:Plekhh2	UTSW	17	84,618,031 (GRCm38)	missense	probably benign	0.11
R1051:Plekhh2	UTSW	17	84,521,827 (GRCm38)	critical splice donor site	probably null
R1084:Plekhh2	UTSW	17	84,571,126 (GRCm38)	missense	probably damaging	0.99
R1351:Plekhh2	UTSW	17	84,577,146 (GRCm38)	splice site	probably benign
R1459:Plekhh2	UTSW	17	84,610,775 (GRCm38)	nonsense	probably null
R1469:Plekhh2	UTSW	17	84,575,771 (GRCm38)	missense	probably benign	0.03
R1469:Plekhh2	UTSW	17	84,575,771 (GRCm38)	missense	probably benign	0.03
R1510:Plekhh2	UTSW	17	84,559,576 (GRCm38)	splice site	probably null
R1699:Plekhh2	UTSW	17	84,577,184 (GRCm38)	nonsense	probably null
R1738:Plekhh2	UTSW	17	84,566,697 (GRCm38)	missense	possibly damaging	0.67
R1773:Plekhh2	UTSW	17	84,599,265 (GRCm38)	missense	probably damaging	1.00
R1796:Plekhh2	UTSW	17	84,599,133 (GRCm38)	critical splice acceptor site	probably null
R1823:Plekhh2	UTSW	17	84,575,189 (GRCm38)	missense	probably damaging	1.00
R1998:Plekhh2	UTSW	17	84,606,877 (GRCm38)	missense	possibly damaging	0.58
R2437:Plekhh2	UTSW	17	84,586,479 (GRCm38)	splice site	probably null
R2847:Plekhh2	UTSW	17	84,597,966 (GRCm38)	missense	probably damaging	1.00
R4088:Plekhh2	UTSW	17	84,617,999 (GRCm38)	missense	probably benign	0.10
R4227:Plekhh2	UTSW	17	84,566,795 (GRCm38)	missense	probably benign	0.00
R4249:Plekhh2	UTSW	17	84,586,337 (GRCm38)	missense	possibly damaging	0.93
R4347:Plekhh2	UTSW	17	84,619,702 (GRCm38)	missense	probably benign	0.12
R4562:Plekhh2	UTSW	17	84,566,097 (GRCm38)	missense	probably benign	0.00
R4649:Plekhh2	UTSW	17	84,575,263 (GRCm38)	missense	probably damaging	1.00
R4737:Plekhh2	UTSW	17	84,563,959 (GRCm38)	missense	probably benign
R4743:Plekhh2	UTSW	17	84,571,120 (GRCm38)	missense	probably damaging	1.00
R4858:Plekhh2	UTSW	17	84,600,697 (GRCm38)	missense	probably damaging	1.00
R5036:Plekhh2	UTSW	17	84,571,761 (GRCm38)	missense	probably damaging	0.99
R5260:Plekhh2	UTSW	17	84,577,165 (GRCm38)	missense	probably damaging	0.99
R5385:Plekhh2	UTSW	17	84,557,466 (GRCm38)	missense	probably benign	0.00
R5409:Plekhh2	UTSW	17	84,586,478 (GRCm38)	critical splice donor site	probably null
R5510:Plekhh2	UTSW	17	84,566,847 (GRCm38)	missense	probably benign
R5557:Plekhh2	UTSW	17	84,560,152 (GRCm38)	missense	probably benign	0.10
R5684:Plekhh2	UTSW	17	84,597,918 (GRCm38)	missense	probably damaging	1.00
R5685:Plekhh2	UTSW	17	84,569,882 (GRCm38)	missense	probably damaging	1.00
R5724:Plekhh2	UTSW	17	84,566,805 (GRCm38)	missense	probably benign	0.00
R5742:Plekhh2	UTSW	17	84,597,980 (GRCm38)	missense	probably damaging	1.00
R5817:Plekhh2	UTSW	17	84,571,726 (GRCm38)	missense	possibly damaging	0.86
R6218:Plekhh2	UTSW	17	84,591,564 (GRCm38)	missense	probably benign	0.03
R6334:Plekhh2	UTSW	17	84,566,866 (GRCm38)	missense	probably benign
R6345:Plekhh2	UTSW	17	84,575,787 (GRCm38)	missense	probably benign	0.01
R6617:Plekhh2	UTSW	17	84,566,287 (GRCm38)	missense	possibly damaging	0.65
R6755:Plekhh2	UTSW	17	84,591,585 (GRCm38)	missense	probably damaging	1.00
R6864:Plekhh2	UTSW	17	84,617,999 (GRCm38)	missense	probably benign	0.10
R7171:Plekhh2	UTSW	17	84,521,788 (GRCm38)	missense	probably damaging	0.96
R7413:Plekhh2	UTSW	17	84,566,296 (GRCm38)	missense	probably benign	0.03
R7585:Plekhh2	UTSW	17	84,577,180 (GRCm38)	missense	probably benign	0.11
R7640:Plekhh2	UTSW	17	84,610,776 (GRCm38)	missense	possibly damaging	0.50
R7733:Plekhh2	UTSW	17	84,583,524 (GRCm38)	nonsense	probably null
R7877:Plekhh2	UTSW	17	84,575,006 (GRCm38)	missense	probably benign
R8085:Plekhh2	UTSW	17	84,597,956 (GRCm38)	missense	probably damaging	0.98
R8206:Plekhh2	UTSW	17	84,590,849 (GRCm38)	missense	possibly damaging	0.47
R8296:Plekhh2	UTSW	17	84,600,685 (GRCm38)	missense	probably damaging	0.98
R8344:Plekhh2	UTSW	17	84,571,761 (GRCm38)	missense	possibly damaging	0.64
R8438:Plekhh2	UTSW	17	84,569,951 (GRCm38)	missense	probably benign
R8487:Plekhh2	UTSW	17	84,557,481 (GRCm38)	missense	possibly damaging	0.55
R8708:Plekhh2	UTSW	17	84,574,993 (GRCm38)	missense	probably benign	0.00
R8830:Plekhh2	UTSW	17	84,521,803 (GRCm38)	missense	probably damaging	1.00
R8847:Plekhh2	UTSW	17	84,571,051 (GRCm38)	missense	probably benign	0.00
R8918:Plekhh2	UTSW	17	84,599,193 (GRCm38)	missense	possibly damaging	0.80
R9047:Plekhh2	UTSW	17	84,590,762 (GRCm38)	missense	probably damaging	0.99
R9404:Plekhh2	UTSW	17	84,571,040 (GRCm38)	critical splice acceptor site	probably null
R9428:Plekhh2	UTSW	17	84,566,413 (GRCm38)	missense	probably benign
R9516:Plekhh2	UTSW	17	84,610,812 (GRCm38)	missense	probably benign	0.00
R9559:Plekhh2	UTSW	17	84,591,589 (GRCm38)	missense	probably damaging	1.00
R9589:Plekhh2	UTSW	17	84,547,490 (GRCm38)	missense	possibly damaging	0.90
R9641:Plekhh2	UTSW	17	84,566,702 (GRCm38)	missense	probably damaging	1.00
R9659:Plekhh2	UTSW	17	84,547,464 (GRCm38)	missense	possibly damaging	0.95
R9788:Plekhh2	UTSW	17	84,547,464 (GRCm38)	missense	possibly damaging	0.95

Posted On

2015-04-16