Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01394:Plekhh2'

79343

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: 0.115) question?

Stock #

IGL01394

Quality Score

Status

Chromosome

Chromosomal Location

84819323-84929566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84864858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

probably benign
Transcript: ENSMUST00000047206
AA Change: T82I

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: T82I

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	A	7: 130,747,960 (GRCm39)	Q11*	probably null	Het
Acot5	T	C	12: 84,122,262 (GRCm39)	I282T	probably benign	Het
Adcy2	A	G	13: 69,130,521 (GRCm39)	V122A	probably damaging	Het
Aldh16a1	A	C	7: 44,794,937 (GRCm39)	S511A	probably benign	Het
Arid3b	T	C	9: 57,702,317 (GRCm39)	E480G	probably damaging	Het
Baz2a	T	C	10: 127,954,514 (GRCm39)	V723A	possibly damaging	Het
Bmpr1b	A	G	3: 141,568,742 (GRCm39)		probably null	Het
Ccdc83	T	C	7: 89,873,209 (GRCm39)	E382G	probably damaging	Het
Cfap46	A	G	7: 139,246,895 (GRCm39)	Y349H	probably damaging	Het
Clpx	T	C	9: 65,217,495 (GRCm39)	V21A	probably damaging	Het
Clstn1	A	G	4: 149,719,239 (GRCm39)	N356S	possibly damaging	Het
Ctnnd1	A	G	2: 84,435,600 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,367,945 (GRCm39)	N505S	probably benign	Het
Eaf2	G	A	16: 36,630,928 (GRCm39)	P82S	probably damaging	Het
Fbxw26	T	C	9: 109,547,057 (GRCm39)	Y456C	probably benign	Het
Foxred2	T	C	15: 77,839,820 (GRCm39)	T157A	probably benign	Het
Fscb	A	T	12: 64,520,578 (GRCm39)	I296K	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,424 (GRCm39)		noncoding transcript	Het
Golgb1	A	G	16: 36,751,926 (GRCm39)	E3120G	probably damaging	Het
Ift140	A	G	17: 25,313,676 (GRCm39)	D1369G	probably benign	Het
Kcnk13	T	C	12: 100,027,921 (GRCm39)	V332A	probably benign	Het
Lama3	T	A	18: 12,664,983 (GRCm39)	D661E	probably null	Het
Lum	A	T	10: 97,404,834 (GRCm39)	D243V	probably damaging	Het
Mgat4c	A	G	10: 102,220,975 (GRCm39)	T86A	possibly damaging	Het
Mpdz	A	T	4: 81,210,728 (GRCm39)	V1706D	possibly damaging	Het
Myrfl	T	C	10: 116,658,592 (GRCm39)	Q455R	probably benign	Het
Or6k2	T	C	1: 173,986,423 (GRCm39)	F28S	probably damaging	Het
Or8c20	T	A	9: 38,261,101 (GRCm39)	S241T	possibly damaging	Het
Papolg	G	A	11: 23,817,235 (GRCm39)	T654I	probably benign	Het
Pappa2	G	A	1: 158,592,674 (GRCm39)		probably benign	Het
Prrc2a	A	G	17: 35,372,080 (GRCm39)	V1773A	probably benign	Het
Psmb8	G	T	17: 34,419,703 (GRCm39)	V186L	probably damaging	Het
Rin3	T	C	12: 102,339,862 (GRCm39)	V604A	probably damaging	Het
Rtn1	T	C	12: 72,355,190 (GRCm39)	D252G	probably benign	Het
Sdk1	C	T	5: 141,598,970 (GRCm39)	H212Y	probably benign	Het
Slc5a5	G	T	8: 71,342,032 (GRCm39)	Y307*	probably null	Het
Slc9a9	T	A	9: 95,005,090 (GRCm39)	L499Q	probably benign	Het
Snx8	C	A	5: 140,337,934 (GRCm39)	G237V	probably benign	Het
Spata18	T	A	5: 73,836,688 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,536,808 (GRCm39)	E417G	possibly damaging	Het
Ubr5	T	C	15: 38,009,875 (GRCm39)	D1034G	possibly damaging	Het
Upf2	A	G	2: 6,045,024 (GRCm39)		probably null	Het
Xrcc6	A	G	15: 81,909,862 (GRCm39)	K89R	possibly damaging	Het
Yeats2	T	C	16: 19,980,782 (GRCm39)	V237A	probably damaging	Het
Zdhhc6	A	G	19: 55,298,324 (GRCm39)	W178R	probably benign	Het
Zfp280b	C	A	10: 75,875,497 (GRCm39)	Q459K	probably damaging	Het
Zfp811	C	A	17: 33,016,794 (GRCm39)	K414N	probably damaging	Het

Other mutations in Plekhh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Plekhh2	APN	17	84,829,203 (GRCm39)	missense	probably benign	0.00
IGL00514:Plekhh2	APN	17	84,903,734 (GRCm39)	critical splice donor site	probably null
IGL00773:Plekhh2	APN	17	84,914,296 (GRCm39)	missense	probably benign	0.01
IGL00985:Plekhh2	APN	17	84,871,356 (GRCm39)	missense	probably benign	0.00
IGL01116:Plekhh2	APN	17	84,914,356 (GRCm39)	missense	possibly damaging	0.94
IGL01419:Plekhh2	APN	17	84,890,980 (GRCm39)	splice site	probably benign
IGL01932:Plekhh2	APN	17	84,884,689 (GRCm39)	missense	probably benign	0.00
IGL02097:Plekhh2	APN	17	84,906,608 (GRCm39)	missense	possibly damaging	0.69
IGL02157:Plekhh2	APN	17	84,874,370 (GRCm39)	splice site	probably benign
IGL02163:Plekhh2	APN	17	84,898,223 (GRCm39)	missense	probably benign	0.45
IGL02237:Plekhh2	APN	17	84,883,213 (GRCm39)	missense	probably benign	0.00
IGL02322:Plekhh2	APN	17	84,896,894 (GRCm39)	nonsense	probably null
IGL02422:Plekhh2	APN	17	84,871,237 (GRCm39)	splice site	probably benign
IGL02483:Plekhh2	APN	17	84,903,688 (GRCm39)	missense	possibly damaging	0.81
IGL02493:Plekhh2	APN	17	84,914,391 (GRCm39)	critical splice donor site	probably null
IGL03007:Plekhh2	APN	17	84,882,388 (GRCm39)	missense	possibly damaging	0.65
R0003:Plekhh2	UTSW	17	84,864,820 (GRCm39)	missense	probably damaging	1.00
R0005:Plekhh2	UTSW	17	84,893,861 (GRCm39)	missense	probably benign	0.16
R0099:Plekhh2	UTSW	17	84,899,100 (GRCm39)	nonsense	probably null
R0331:Plekhh2	UTSW	17	84,893,794 (GRCm39)	missense	possibly damaging	0.81
R0883:Plekhh2	UTSW	17	84,925,459 (GRCm39)	missense	probably benign	0.11
R1051:Plekhh2	UTSW	17	84,829,255 (GRCm39)	critical splice donor site	probably null
R1084:Plekhh2	UTSW	17	84,878,554 (GRCm39)	missense	probably damaging	0.99
R1351:Plekhh2	UTSW	17	84,884,574 (GRCm39)	splice site	probably benign
R1459:Plekhh2	UTSW	17	84,918,203 (GRCm39)	nonsense	probably null
R1469:Plekhh2	UTSW	17	84,883,199 (GRCm39)	missense	probably benign	0.03
R1469:Plekhh2	UTSW	17	84,883,199 (GRCm39)	missense	probably benign	0.03
R1510:Plekhh2	UTSW	17	84,867,004 (GRCm39)	splice site	probably null
R1699:Plekhh2	UTSW	17	84,884,612 (GRCm39)	nonsense	probably null
R1738:Plekhh2	UTSW	17	84,874,125 (GRCm39)	missense	possibly damaging	0.67
R1773:Plekhh2	UTSW	17	84,906,693 (GRCm39)	missense	probably damaging	1.00
R1796:Plekhh2	UTSW	17	84,906,561 (GRCm39)	critical splice acceptor site	probably null
R1823:Plekhh2	UTSW	17	84,882,617 (GRCm39)	missense	probably damaging	1.00
R1998:Plekhh2	UTSW	17	84,914,305 (GRCm39)	missense	possibly damaging	0.58
R2437:Plekhh2	UTSW	17	84,893,907 (GRCm39)	splice site	probably null
R2847:Plekhh2	UTSW	17	84,905,394 (GRCm39)	missense	probably damaging	1.00
R4088:Plekhh2	UTSW	17	84,925,427 (GRCm39)	missense	probably benign	0.10
R4227:Plekhh2	UTSW	17	84,874,223 (GRCm39)	missense	probably benign	0.00
R4249:Plekhh2	UTSW	17	84,893,765 (GRCm39)	missense	possibly damaging	0.93
R4347:Plekhh2	UTSW	17	84,927,130 (GRCm39)	missense	probably benign	0.12
R4562:Plekhh2	UTSW	17	84,873,525 (GRCm39)	missense	probably benign	0.00
R4649:Plekhh2	UTSW	17	84,882,691 (GRCm39)	missense	probably damaging	1.00
R4737:Plekhh2	UTSW	17	84,871,387 (GRCm39)	missense	probably benign
R4743:Plekhh2	UTSW	17	84,878,548 (GRCm39)	missense	probably damaging	1.00
R4858:Plekhh2	UTSW	17	84,908,125 (GRCm39)	missense	probably damaging	1.00
R5036:Plekhh2	UTSW	17	84,879,189 (GRCm39)	missense	probably damaging	0.99
R5260:Plekhh2	UTSW	17	84,884,593 (GRCm39)	missense	probably damaging	0.99
R5385:Plekhh2	UTSW	17	84,864,894 (GRCm39)	missense	probably benign	0.00
R5409:Plekhh2	UTSW	17	84,893,906 (GRCm39)	critical splice donor site	probably null
R5510:Plekhh2	UTSW	17	84,874,275 (GRCm39)	missense	probably benign
R5557:Plekhh2	UTSW	17	84,867,580 (GRCm39)	missense	probably benign	0.10
R5684:Plekhh2	UTSW	17	84,905,346 (GRCm39)	missense	probably damaging	1.00
R5685:Plekhh2	UTSW	17	84,877,310 (GRCm39)	missense	probably damaging	1.00
R5724:Plekhh2	UTSW	17	84,874,233 (GRCm39)	missense	probably benign	0.00
R5742:Plekhh2	UTSW	17	84,905,408 (GRCm39)	missense	probably damaging	1.00
R5817:Plekhh2	UTSW	17	84,879,154 (GRCm39)	missense	possibly damaging	0.86
R6218:Plekhh2	UTSW	17	84,898,992 (GRCm39)	missense	probably benign	0.03
R6334:Plekhh2	UTSW	17	84,874,294 (GRCm39)	missense	probably benign
R6345:Plekhh2	UTSW	17	84,883,215 (GRCm39)	missense	probably benign	0.01
R6617:Plekhh2	UTSW	17	84,873,715 (GRCm39)	missense	possibly damaging	0.65
R6755:Plekhh2	UTSW	17	84,899,013 (GRCm39)	missense	probably damaging	1.00
R6864:Plekhh2	UTSW	17	84,925,427 (GRCm39)	missense	probably benign	0.10
R7171:Plekhh2	UTSW	17	84,829,216 (GRCm39)	missense	probably damaging	0.96
R7413:Plekhh2	UTSW	17	84,873,724 (GRCm39)	missense	probably benign	0.03
R7585:Plekhh2	UTSW	17	84,884,608 (GRCm39)	missense	probably benign	0.11
R7640:Plekhh2	UTSW	17	84,918,204 (GRCm39)	missense	possibly damaging	0.50
R7733:Plekhh2	UTSW	17	84,890,952 (GRCm39)	nonsense	probably null
R7877:Plekhh2	UTSW	17	84,882,434 (GRCm39)	missense	probably benign
R8085:Plekhh2	UTSW	17	84,905,384 (GRCm39)	missense	probably damaging	0.98
R8206:Plekhh2	UTSW	17	84,898,277 (GRCm39)	missense	possibly damaging	0.47
R8296:Plekhh2	UTSW	17	84,908,113 (GRCm39)	missense	probably damaging	0.98
R8344:Plekhh2	UTSW	17	84,879,189 (GRCm39)	missense	possibly damaging	0.64
R8438:Plekhh2	UTSW	17	84,877,379 (GRCm39)	missense	probably benign
R8487:Plekhh2	UTSW	17	84,864,909 (GRCm39)	missense	possibly damaging	0.55
R8708:Plekhh2	UTSW	17	84,882,421 (GRCm39)	missense	probably benign	0.00
R8830:Plekhh2	UTSW	17	84,829,231 (GRCm39)	missense	probably damaging	1.00
R8847:Plekhh2	UTSW	17	84,878,479 (GRCm39)	missense	probably benign	0.00
R8918:Plekhh2	UTSW	17	84,906,621 (GRCm39)	missense	possibly damaging	0.80
R9047:Plekhh2	UTSW	17	84,898,190 (GRCm39)	missense	probably damaging	0.99
R9404:Plekhh2	UTSW	17	84,878,468 (GRCm39)	critical splice acceptor site	probably null
R9428:Plekhh2	UTSW	17	84,873,841 (GRCm39)	missense	probably benign
R9516:Plekhh2	UTSW	17	84,918,240 (GRCm39)	missense	probably benign	0.00
R9559:Plekhh2	UTSW	17	84,899,017 (GRCm39)	missense	probably damaging	1.00
R9589:Plekhh2	UTSW	17	84,854,918 (GRCm39)	missense	possibly damaging	0.90
R9641:Plekhh2	UTSW	17	84,874,130 (GRCm39)	missense	probably damaging	1.00
R9659:Plekhh2	UTSW	17	84,854,892 (GRCm39)	missense	possibly damaging	0.95
R9788:Plekhh2	UTSW	17	84,854,892 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-11-05