Mutagenetix > Incidental Mutation

Incidental Mutation 'R5036:Plekhh2'

389553

Institutional Source

Beutler Lab

Gene Symbol

Plekhh2

Ensembl Gene

ENSMUSG00000040852

Gene Name

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

Synonyms

MMRRC Submission

042627-MU

Accession Numbers

Essential gene?

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

Stock #

R5036 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

84511895-84622142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84571761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 638 (S638P)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

probably damaging
Transcript: ENSMUST00000047206
AA Change: S638P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: S638P

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

Meta Mutation Damage Score

0.0798

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,626,154 (GRCm38)	G427D	possibly damaging	Het
Agbl5	G	A	5: 30,903,059 (GRCm38)	R141Q	probably damaging	Het
C4b	T	A	17: 34,740,445 (GRCm38)		probably null	Het
Cabyr	A	T	18: 12,751,246 (GRCm38)	E263D	probably damaging	Het
Car1	A	T	3: 14,776,239 (GRCm38)	D45E	possibly damaging	Het
Col25a1	T	C	3: 130,583,329 (GRCm38)		probably null	Het
Dnah6	G	T	6: 73,044,691 (GRCm38)	S3549R	probably benign	Het
Dync1h1	A	T	12: 110,630,535 (GRCm38)	I1639F	probably damaging	Het
Fhad1	A	T	4: 141,920,741 (GRCm38)	D271E	probably benign	Het
Gle1	T	C	2: 29,936,211 (GRCm38)	S101P	probably benign	Het
Gm4781	C	A	10: 100,396,989 (GRCm38)		noncoding transcript	Het
Gpatch3	A	G	4: 133,578,150 (GRCm38)	Y232C	probably damaging	Het
Gtf2ird2	A	G	5: 134,217,507 (GRCm38)	N869S	probably damaging	Het
Ifi204	G	A	1: 173,752,745 (GRCm38)	P400S	possibly damaging	Het
Ighv2-2	T	C	12: 113,588,472 (GRCm38)	T49A	possibly damaging	Het
Itsn1	T	A	16: 91,782,235 (GRCm38)		probably benign	Het
Mib2	A	T	4: 155,656,288 (GRCm38)	N626K	probably damaging	Het
Nf1	C	A	11: 79,446,864 (GRCm38)	Q1098K	probably damaging	Het
Odc1	C	A	12: 17,548,019 (GRCm38)	Q116K	probably damaging	Het
Otof	C	T	5: 30,384,439 (GRCm38)	E761K	possibly damaging	Het
Palld	A	T	8: 61,550,162 (GRCm38)	V301D	probably damaging	Het
Pask	A	T	1: 93,322,079 (GRCm38)	L533*	probably null	Het
Scaf8	T	A	17: 3,164,262 (GRCm38)		probably benign	Het
Sdccag8	G	T	1: 177,011,975 (GRCm38)	R695L	probably damaging	Het
Serpina1c	A	G	12: 103,898,826 (GRCm38)	I187T	probably damaging	Het
Slitrk5	G	T	14: 111,680,884 (GRCm38)	G647W	possibly damaging	Het
Sycp1	T	A	3: 102,820,600 (GRCm38)	K899M	probably damaging	Het
Taok1	G	A	11: 77,549,331 (GRCm38)	R617C	probably benign	Het
Tbc1d32	A	C	10: 56,195,404 (GRCm38)	Y341*	probably null	Het
Tenm4	A	G	7: 96,694,790 (GRCm38)	N267D	probably damaging	Het
Tenm4	T	C	7: 96,852,561 (GRCm38)	V1287A	probably damaging	Het
Tsga10	A	T	1: 37,783,968 (GRCm38)	V488E	possibly damaging	Het
Ttc39c	G	T	18: 12,687,081 (GRCm38)		probably null	Het
Uck1	A	T	2: 32,258,466 (GRCm38)		probably benign	Het
Vmn2r98	A	G	17: 19,066,157 (GRCm38)	I306V	probably benign	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
IGL02483:Plekhh2	APN	17	84,596,260 (GRCm38)	missense	possibly damaging	0.81
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
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

Predicted Primers

PCR Primer
(F):5'- GTTCTGTAAAGCATTGCCTGTG -3'
(R):5'- CTAGGCTCATGTCCATTACGG -3'

Sequencing Primer
(F):5'- CTGTAAAGCATTGCCTGTGTAAAGAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2016-06-06