Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Plekhh2'

196872

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

039804-MU

Accession Numbers

Essential gene?

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

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84511895-84622142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84599265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1176 (E1176G)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

probably damaging
Transcript: ENSMUST00000047206
AA Change: E1176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: E1176G

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

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,580,595 (GRCm38)	K334E	probably damaging	Het
Abca12	A	G	1: 71,288,596 (GRCm38)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,757,557 (GRCm38)	T79A	probably benign	Het
Adipoq	A	C	16: 23,155,238 (GRCm38)	Q26P	unknown	Het
Afg2a	T	C	3: 37,439,185 (GRCm38)	F515L	probably damaging	Het
Akap13	T	A	7: 75,683,451 (GRCm38)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,779,096 (GRCm38)	T133A	probably benign	Het
Anks3	T	C	16: 4,947,294 (GRCm38)	T418A	probably benign	Het
Ano3	A	C	2: 110,761,455 (GRCm38)	L37R	probably damaging	Het
Ano9	A	G	7: 141,108,378 (GRCm38)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 43,005,542 (GRCm38)		probably null	Het
Arl16	T	A	11: 120,465,763 (GRCm38)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,319,931 (GRCm38)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,041,765 (GRCm38)	R89Q	unknown	Het
Cd109	A	C	9: 78,703,724 (GRCm38)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,725,304 (GRCm38)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,510,573 (GRCm38)	V538I	probably benign	Het
Cep57	G	A	9: 13,816,068 (GRCm38)	A202V	probably damaging	Het
Chl1	T	C	6: 103,647,331 (GRCm38)		probably null	Het
Cmah	T	G	13: 24,417,299 (GRCm38)	F29L	probably benign	Het
Cracd	G	T	5: 76,867,205 (GRCm38)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,992,548 (GRCm38)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,470,722 (GRCm38)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 24,882,602 (GRCm38)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,599,902 (GRCm38)	T645S	probably benign	Het
Dhcr7	C	T	7: 143,847,458 (GRCm38)	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,752,363 (GRCm38)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,193,961 (GRCm38)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,432,887 (GRCm38)		probably null	Het
Dst	A	G	1: 34,291,899 (GRCm38)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,507,107 (GRCm38)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm38)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,446,584 (GRCm38)	G328V	probably damaging	Het
Eml5	T	C	12: 98,798,839 (GRCm38)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,128,229 (GRCm38)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,584,334 (GRCm38)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,637,383 (GRCm38)	D563V	probably damaging	Het
Gad2	A	G	2: 22,690,207 (GRCm38)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,153 (GRCm38)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,891,294 (GRCm38)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,821,259 (GRCm38)	Y223*	probably null	Het
H2-M10.6	A	G	17: 36,812,184 (GRCm38)	K3R	probably benign	Het
Hid1	A	G	11: 115,348,510 (GRCm38)	Y776H	probably damaging	Het
Hivep3	A	T	4: 120,098,837 (GRCm38)	K1450I	probably damaging	Het
Icam5	T	C	9: 21,033,525 (GRCm38)	L128P	possibly damaging	Het
Idnk	T	C	13: 58,157,712 (GRCm38)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,567,182 (GRCm38)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,418,409 (GRCm38)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,785,570 (GRCm38)		probably benign	Het
Lrrk2	A	G	15: 91,779,981 (GRCm38)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,471,160 (GRCm38)	A369V	probably benign	Het
Nek6	A	G	2: 38,582,419 (GRCm38)	M252V	probably benign	Het
Nfasc	T	A	1: 132,610,839 (GRCm38)	I443F	probably damaging	Het
Nme8	T	G	13: 19,697,036 (GRCm38)	M1L	probably damaging	Het
Npnt	T	A	3: 132,904,693 (GRCm38)	Q423L	possibly damaging	Het
Nup133	A	T	8: 123,930,983 (GRCm38)	C404*	probably null	Het
Or2b7	T	C	13: 21,555,812 (GRCm38)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,325,742 (GRCm38)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,944,859 (GRCm38)	V199A	possibly damaging	Het
Or56a4	T	C	7: 105,156,983 (GRCm38)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,241,659 (GRCm38)	M1V	probably null	Het
Or6c213	A	G	10: 129,738,443 (GRCm38)	L158S	probably damaging	Het
Otog	T	A	7: 46,288,159 (GRCm38)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,363,452 (GRCm38)	I127M	probably benign	Het
P4hb	C	A	11: 120,572,726 (GRCm38)	V28F	probably damaging	Het
Pbld2	C	T	10: 63,054,371 (GRCm38)	A186V	probably benign	Het
Pdzph1	G	T	17: 58,974,813 (GRCm38)	T158K	probably damaging	Het
Pgm1	T	A	5: 64,107,851 (GRCm38)		probably null	Het
Phip	A	T	9: 82,876,189 (GRCm38)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,192,271 (GRCm38)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,246,370 (GRCm38)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,244,721 (GRCm38)	S63P	probably benign	Het
Prlr	T	A	15: 10,325,318 (GRCm38)	Y192*	probably null	Het
Pten	T	A	19: 32,798,072 (GRCm38)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 180,281,194 (GRCm38)	L202P	probably benign	Het
Ripor2	T	A	13: 24,701,254 (GRCm38)	S491T	probably benign	Het
Robo1	A	T	16: 73,004,511 (GRCm38)	I1008F	probably benign	Het
Scg2	T	C	1: 79,435,635 (GRCm38)	N417S	probably benign	Het
Scn8a	A	G	15: 101,039,615 (GRCm38)	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,594,229 (GRCm38)	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,471,465 (GRCm38)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,208,818 (GRCm38)	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,075,352 (GRCm38)	G196D	probably damaging	Het
Tgm5	G	T	2: 121,077,650 (GRCm38)	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,826,501 (GRCm38)		probably null	Het
Tmem177	T	C	1: 119,910,576 (GRCm38)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,435,901 (GRCm38)	F34S	probably damaging	Het
Tsn	T	C	1: 118,305,239 (GRCm38)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,776 (GRCm38)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,469,073 (GRCm38)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,650,224 (GRCm38)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,791,757 (GRCm38)	S142P	probably damaging	Het
Wrn	A	T	8: 33,343,561 (GRCm38)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,072,891 (GRCm38)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,007,106 (GRCm38)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,711,530 (GRCm38)	M177K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACACTACCATTAGTCAGGCATTGCG -3'
(R):5'- GGAAAGGCTGCCACATCTTCATTTG -3'

Sequencing Primer
(F):5'- GCCCTGCTTCCCCAAGG -3'
(R):5'- cctttcacccactgagcc -3'

Posted On

2014-05-23