Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02322:Plekhh2'

288285

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: 0.120) question?

Stock #

IGL02322

Quality Score

Status

Chromosome

Chromosomal Location

84511895-84622142 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 84589466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 934 (K934*)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

probably null
Transcript: ENSMUST00000047206
AA Change: K934*

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: K934*

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	G	A	8: 105,698,636	A355V	probably benign	Het
Adam9	A	G	8: 24,955,974	V801A	probably damaging	Het
Ankrd36	T	A	11: 5,614,619	V479D	possibly damaging	Het
Arid5a	C	T	1: 36,319,416	P423L	probably benign	Het
Atp13a4	T	C	16: 29,440,102	I650V	probably benign	Het
B4gat1	C	A	19: 5,039,127	P51T	possibly damaging	Het
Caskin2	G	A	11: 115,804,477	T310M	probably damaging	Het
Ccdc121	A	G	1: 181,510,434	S318P	possibly damaging	Het
Ccdc159	G	T	9: 21,929,373	V79L	possibly damaging	Het
Ccser2	A	T	14: 36,909,129	V18E	probably damaging	Het
Cct8l1	T	C	5: 25,517,583	V432A	probably benign	Het
Cdh11	A	T	8: 102,647,519	F529Y	probably benign	Het
Cep250	A	G	2: 155,990,328	E1370G	probably damaging	Het
Col22a1	C	A	15: 71,822,653	G717C	unknown	Het
Csmd2	T	C	4: 128,463,727		probably benign	Het
Ctrb1	A	C	8: 111,689,319		probably null	Het
Cyp2b19	T	C	7: 26,762,378	S208P	possibly damaging	Het
Dnmt3l	T	A	10: 78,052,738	I158N	possibly damaging	Het
Evi5l	T	C	8: 4,187,236		probably benign	Het
Fkbpl	A	G	17: 34,645,324	E22G	probably benign	Het
Flnb	T	A	14: 7,894,676	F825I	probably damaging	Het
Gjb6	A	T	14: 57,124,275	N176K	probably damaging	Het
Gpc2	G	T	5: 138,276,237		probably null	Het
H1fnt	T	C	15: 98,256,876	T131A	possibly damaging	Het
Il20	C	T	1: 130,909,576	C104Y	probably damaging	Het
Mgat5	A	G	1: 127,382,985	N212S	probably benign	Het
Olfm5	C	T	7: 104,154,401	G210D	probably damaging	Het
Olfr1226	T	A	2: 89,193,462	T191S	probably damaging	Het
Olfr1387	A	G	11: 49,459,957	S93G	probably benign	Het
Olig2	T	C	16: 91,226,658	S87P	probably benign	Het
Osbpl7	G	T	11: 97,056,124	A418S	probably benign	Het
Otog	G	T	7: 46,301,457	R2551L	probably benign	Het
Oxt	A	T	2: 130,576,280	N24I	probably damaging	Het
Pibf1	A	G	14: 99,210,983	Y626C	probably damaging	Het
Pramef17	G	A	4: 143,992,021		probably benign	Het
Prdm9	A	T	17: 15,562,848	N57K	probably damaging	Het
Rapsn	A	G	2: 91,041,906	D195G	possibly damaging	Het
Rimbp3	T	G	16: 17,211,615	F968V	probably benign	Het
Rpgrip1	A	G	14: 52,150,042	N1047S	possibly damaging	Het
Slc35g1	C	T	19: 38,400,565	R107*	probably null	Het
Ssh2	A	C	11: 77,416,413		probably null	Het
Tiparp	C	A	3: 65,532,020	C70*	probably null	Het
Vmn2r110	A	G	17: 20,573,935	I824T	probably damaging	Het
Vmn2r78	T	C	7: 86,921,479	S402P	probably damaging	Het
Vps13c	A	G	9: 67,937,901	E2089G	probably benign	Het
Xirp2	A	T	2: 67,508,738	H441L	probably benign	Het
Zdhhc3	C	T	9: 123,100,477	G31D	probably benign	Het
Zfp330	A	G	8: 82,770,821	L64S	probably damaging	Het

Other mutations in Plekhh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Plekhh2	APN	17	84521775	missense	probably benign	0.00
IGL00514:Plekhh2	APN	17	84596306	critical splice donor site	probably null
IGL00773:Plekhh2	APN	17	84606868	missense	probably benign	0.01
IGL00985:Plekhh2	APN	17	84563928	missense	probably benign	0.00
IGL01116:Plekhh2	APN	17	84606928	missense	possibly damaging	0.94
IGL01394:Plekhh2	APN	17	84557430	missense	probably benign	0.24
IGL01419:Plekhh2	APN	17	84583552	splice site	probably benign
IGL01932:Plekhh2	APN	17	84577261	missense	probably benign	0.00
IGL02097:Plekhh2	APN	17	84599180	missense	possibly damaging	0.69
IGL02157:Plekhh2	APN	17	84566942	splice site	probably benign
IGL02163:Plekhh2	APN	17	84590795	missense	probably benign	0.45
IGL02237:Plekhh2	APN	17	84575785	missense	probably benign	0.00
IGL02422:Plekhh2	APN	17	84563809	splice site	probably benign
IGL02483:Plekhh2	APN	17	84596260	missense	possibly damaging	0.81
IGL02493:Plekhh2	APN	17	84606963	critical splice donor site	probably null
IGL03007:Plekhh2	APN	17	84574960	missense	possibly damaging	0.65
R0003:Plekhh2	UTSW	17	84557392	missense	probably damaging	1.00
R0005:Plekhh2	UTSW	17	84586433	missense	probably benign	0.16
R0099:Plekhh2	UTSW	17	84591672	nonsense	probably null
R0331:Plekhh2	UTSW	17	84586366	missense	possibly damaging	0.81
R0883:Plekhh2	UTSW	17	84618031	missense	probably benign	0.11
R1051:Plekhh2	UTSW	17	84521827	critical splice donor site	probably null
R1084:Plekhh2	UTSW	17	84571126	missense	probably damaging	0.99
R1351:Plekhh2	UTSW	17	84577146	splice site	probably benign
R1459:Plekhh2	UTSW	17	84610775	nonsense	probably null
R1469:Plekhh2	UTSW	17	84575771	missense	probably benign	0.03
R1469:Plekhh2	UTSW	17	84575771	missense	probably benign	0.03
R1510:Plekhh2	UTSW	17	84559576	splice site	probably null
R1699:Plekhh2	UTSW	17	84577184	nonsense	probably null
R1738:Plekhh2	UTSW	17	84566697	missense	possibly damaging	0.67
R1773:Plekhh2	UTSW	17	84599265	missense	probably damaging	1.00
R1796:Plekhh2	UTSW	17	84599133	critical splice acceptor site	probably null
R1823:Plekhh2	UTSW	17	84575189	missense	probably damaging	1.00
R1998:Plekhh2	UTSW	17	84606877	missense	possibly damaging	0.58
R2437:Plekhh2	UTSW	17	84586479	splice site	probably null
R2847:Plekhh2	UTSW	17	84597966	missense	probably damaging	1.00
R4088:Plekhh2	UTSW	17	84617999	missense	probably benign	0.10
R4227:Plekhh2	UTSW	17	84566795	missense	probably benign	0.00
R4249:Plekhh2	UTSW	17	84586337	missense	possibly damaging	0.93
R4347:Plekhh2	UTSW	17	84619702	missense	probably benign	0.12
R4562:Plekhh2	UTSW	17	84566097	missense	probably benign	0.00
R4649:Plekhh2	UTSW	17	84575263	missense	probably damaging	1.00
R4737:Plekhh2	UTSW	17	84563959	missense	probably benign
R4743:Plekhh2	UTSW	17	84571120	missense	probably damaging	1.00
R4858:Plekhh2	UTSW	17	84600697	missense	probably damaging	1.00
R5036:Plekhh2	UTSW	17	84571761	missense	probably damaging	0.99
R5260:Plekhh2	UTSW	17	84577165	missense	probably damaging	0.99
R5385:Plekhh2	UTSW	17	84557466	missense	probably benign	0.00
R5409:Plekhh2	UTSW	17	84586478	critical splice donor site	probably null
R5510:Plekhh2	UTSW	17	84566847	missense	probably benign
R5557:Plekhh2	UTSW	17	84560152	missense	probably benign	0.10
R5684:Plekhh2	UTSW	17	84597918	missense	probably damaging	1.00
R5685:Plekhh2	UTSW	17	84569882	missense	probably damaging	1.00
R5724:Plekhh2	UTSW	17	84566805	missense	probably benign	0.00
R5742:Plekhh2	UTSW	17	84597980	missense	probably damaging	1.00
R5817:Plekhh2	UTSW	17	84571726	missense	possibly damaging	0.86
R6218:Plekhh2	UTSW	17	84591564	missense	probably benign	0.03
R6334:Plekhh2	UTSW	17	84566866	missense	probably benign
R6345:Plekhh2	UTSW	17	84575787	missense	probably benign	0.01
R6617:Plekhh2	UTSW	17	84566287	missense	possibly damaging	0.65
R6755:Plekhh2	UTSW	17	84591585	missense	probably damaging	1.00
R6864:Plekhh2	UTSW	17	84617999	missense	probably benign	0.10
R7171:Plekhh2	UTSW	17	84521788	missense	probably damaging	0.96
R7413:Plekhh2	UTSW	17	84566296	missense	probably benign	0.03
R7585:Plekhh2	UTSW	17	84577180	missense	probably benign	0.11
R7640:Plekhh2	UTSW	17	84610776	missense	possibly damaging	0.50
R7733:Plekhh2	UTSW	17	84583524	nonsense	probably null
R7877:Plekhh2	UTSW	17	84575006	missense	probably benign
R8085:Plekhh2	UTSW	17	84597956	missense	probably damaging	0.98
R8206:Plekhh2	UTSW	17	84590849	missense	possibly damaging	0.47
R8296:Plekhh2	UTSW	17	84600685	missense	probably damaging	0.98
R8344:Plekhh2	UTSW	17	84571761	missense	possibly damaging	0.64
R8438:Plekhh2	UTSW	17	84569951	missense	probably benign
R8487:Plekhh2	UTSW	17	84557481	missense	possibly damaging	0.55
R8708:Plekhh2	UTSW	17	84574993	missense	probably benign	0.00
R8830:Plekhh2	UTSW	17	84521803	missense	probably damaging	1.00
R8847:Plekhh2	UTSW	17	84571051	missense	probably benign	0.00
R8918:Plekhh2	UTSW	17	84599193	missense	possibly damaging	0.80
R9047:Plekhh2	UTSW	17	84590762	missense	probably damaging	0.99
R9404:Plekhh2	UTSW	17	84571040	critical splice acceptor site	probably null
R9428:Plekhh2	UTSW	17	84566413	missense	probably benign
R9516:Plekhh2	UTSW	17	84610812	missense	probably benign	0.00
R9559:Plekhh2	UTSW	17	84591589	missense	probably damaging	1.00
R9589:Plekhh2	UTSW	17	84547490	missense	possibly damaging	0.90
R9641:Plekhh2	UTSW	17	84566702	missense	probably damaging	1.00
R9659:Plekhh2	UTSW	17	84547464	missense	possibly damaging	0.95
R9788:Plekhh2	UTSW	17	84547464	missense	possibly damaging	0.95

Posted On

2015-04-16