Mutagenetix > Incidental Mutation

Incidental Mutation 'R5742:Plekhh2'

445640

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

043352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84819323-84929566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84905408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1101 (S1101T)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

probably damaging
Transcript: ENSMUST00000047206
AA Change: S1101T

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

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: S1101T

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,056,379 (GRCm39)	A794T	possibly damaging	Het
Abca9	T	G	11: 110,051,243 (GRCm39)	E151A	probably damaging	Het
Abcb5	A	G	12: 118,881,992 (GRCm39)	V579A	probably damaging	Het
Apob	T	A	12: 8,057,191 (GRCm39)	L1858Q	probably damaging	Het
Cerk	C	T	15: 86,025,773 (GRCm39)	E223K	probably damaging	Het
Cntnap2	T	A	6: 45,897,860 (GRCm39)	Y179*	probably null	Het
Ddx60	A	T	8: 62,401,955 (GRCm39)	Y277F	probably benign	Het
Dlgap1	T	G	17: 71,025,194 (GRCm39)	V538G	probably benign	Het
Duox2	A	G	2: 122,115,402 (GRCm39)	I1050T	probably benign	Het
Dusp10	A	G	1: 183,769,853 (GRCm39)		probably null	Het
Dync2h1	T	A	9: 7,165,762 (GRCm39)	I500F	possibly damaging	Het
Erich3	T	A	3: 154,438,960 (GRCm39)	C398S	probably damaging	Het
Fez1	G	A	9: 36,761,743 (GRCm39)		probably null	Het
Fkbp3	A	C	12: 65,116,812 (GRCm39)	H41Q	probably benign	Het
Fras1	C	G	5: 96,916,240 (GRCm39)	Q3425E	possibly damaging	Het
Fuca1	T	C	4: 135,650,286 (GRCm39)	V119A	probably damaging	Het
Grhl2	A	G	15: 37,328,616 (GRCm39)	K414R	probably damaging	Het
Heatr5a	A	T	12: 52,002,335 (GRCm39)	C200*	probably null	Het
Hmgcs2	A	G	3: 98,204,832 (GRCm39)	N330S	probably benign	Het
Hspd1	A	G	1: 55,123,766 (GRCm39)	V118A	probably benign	Het
Jmjd1c	A	G	10: 67,056,112 (GRCm39)	T511A	probably benign	Het
Kat6b	T	C	14: 21,718,503 (GRCm39)	S1061P	probably damaging	Het
Kcnh6	T	C	11: 105,899,968 (GRCm39)	V79A	probably benign	Het
Kel	C	T	6: 41,675,961 (GRCm39)	G243E	probably damaging	Het
Klc4	C	T	17: 46,953,197 (GRCm39)	R111Q	probably damaging	Het
Lrp1	T	C	10: 127,384,216 (GRCm39)	D3641G	probably damaging	Het
Map2k1	A	T	9: 64,101,053 (GRCm39)	D208E	probably damaging	Het
Masp1	T	A	16: 23,273,675 (GRCm39)	M588L	probably benign	Het
Mgl2	T	A	11: 70,027,510 (GRCm39)	N239K	probably benign	Het
Mki67	G	A	7: 135,306,102 (GRCm39)	T625M	probably benign	Het
Ndufb5	T	C	3: 32,801,930 (GRCm39)	Y112H	probably damaging	Het
Npr3	A	G	15: 11,883,494 (GRCm39)	S312P	probably damaging	Het
Nuf2	A	T	1: 169,344,191 (GRCm39)	I125N	probably damaging	Het
Obox1	G	A	7: 15,289,430 (GRCm39)	G73D	possibly damaging	Het
Odad4	G	A	11: 100,436,699 (GRCm39)	G25R	possibly damaging	Het
Or51a43	G	T	7: 103,717,412 (GRCm39)	H275Q	probably damaging	Het
Or8g19	T	A	9: 39,055,974 (GRCm39)	F193I	probably benign	Het
Pcdhb15	T	C	18: 37,607,820 (GRCm39)	S351P	probably damaging	Het
Phc2	G	T	4: 128,639,661 (GRCm39)	R121L	probably damaging	Het
Pla2g2a	A	G	4: 138,560,653 (GRCm39)	K87E	probably benign	Het
Ppp4r1	T	C	17: 66,144,741 (GRCm39)	I786T	probably damaging	Het
Prxl2a	T	C	14: 40,724,460 (GRCm39)	E57G	possibly damaging	Het
Ros1	A	T	10: 52,018,234 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,927,023 (GRCm39)	V863E	probably benign	Het
Trnt1	T	A	6: 106,755,878 (GRCm39)	L311*	probably null	Het
Vmn1r47	T	A	6: 89,999,500 (GRCm39)	L211M	probably damaging	Het
Zfp12	A	G	5: 143,230,945 (GRCm39)	E424G	probably damaging	Het
Zranb2	T	A	3: 157,246,340 (GRCm39)	Y17*	probably null	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
IGL01394:Plekhh2	APN	17	84,864,858 (GRCm39)	missense	probably benign	0.24
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTCATGAGGATGTCTGAGTCTG -3'
(R):5'- GGAAGCATTCTCCGATTTGTAC -3'

Sequencing Primer
(F):5'- TGCAAAATTAAAGAAACTGGAGTCC -3'
(R):5'- GCATTCTCCGATTTGTACAATAATGC -3'

Posted On

2016-11-21