Mutagenetix > Incidental Mutation

Incidental Mutation 'R3615:Plekhd1'

268443

Institutional Source

Beutler Lab

Gene Symbol

Plekhd1

Ensembl Gene

ENSMUSG00000066438

Gene Name

pleckstrin homology domain containing, family D (with coiled-coil domains) member 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80692591-80724214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80717270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 202 (E202G)

Ref Sequence

ENSEMBL: ENSMUSP00000119711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140770]

AlphaFold

B2RPU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000140770
AA Change: E202G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: E202G

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
PH	29	138	9.19e-13	SMART
coiled coil region	146	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153762

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864 (GRCm38)	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294 (GRCm38)	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782 (GRCm38)	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465 (GRCm38)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565 (GRCm38)	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887 (GRCm38)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550 (GRCm38)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm38)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035 (GRCm38)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148 (GRCm38)	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370 (GRCm38)	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063 (GRCm38)	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095 (GRCm38)	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447 (GRCm38)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815 (GRCm38)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760 (GRCm38)	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172 (GRCm38)	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451 (GRCm38)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957 (GRCm38)	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688 (GRCm38)	A46S	unknown	Het
Gm597	T	C	1: 28,776,575 (GRCm38)	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571 (GRCm38)	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742 (GRCm38)		probably benign	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Krt25	A	C	11: 99,317,298 (GRCm38)	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287 (GRCm38)	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150 (GRCm38)	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914 (GRCm38)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476 (GRCm38)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575 (GRCm38)	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409 (GRCm38)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232 (GRCm38)	S57F	probably damaging	Het
Pla2g2e	G	A	4: 138,880,374 (GRCm38)	V22I	probably benign	Het
Prss21	A	G	17: 23,872,831 (GRCm38)	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846 (GRCm38)	E65G	probably benign	Het
Psap	A	G	10: 60,294,603 (GRCm38)	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883 (GRCm38)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm38)	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523 (GRCm38)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705 (GRCm38)	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570 (GRCm38)	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451 (GRCm38)	S10G	possibly damaging	Het
Tas2r102	C	T	6: 132,762,818 (GRCm38)	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428 (GRCm38)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313 (GRCm38)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579 (GRCm38)	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570 (GRCm38)	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838 (GRCm38)	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Vash2	T	C	1: 190,970,419 (GRCm38)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866 (GRCm38)	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939 (GRCm38)	T420A	probably benign	Het

Other mutations in Plekhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02882:Plekhd1	APN	12	80,719,007 (GRCm38)	critical splice donor site	probably null
R0377:Plekhd1	UTSW	12	80,706,436 (GRCm38)	splice site	probably benign
R0462:Plekhd1	UTSW	12	80,721,578 (GRCm38)	missense	probably damaging	1.00
R0626:Plekhd1	UTSW	12	80,717,301 (GRCm38)	missense	probably damaging	1.00
R1125:Plekhd1	UTSW	12	80,707,224 (GRCm38)	missense	possibly damaging	0.83
R1344:Plekhd1	UTSW	12	80,692,885 (GRCm38)	missense	probably benign
R1418:Plekhd1	UTSW	12	80,692,885 (GRCm38)	missense	probably benign
R1694:Plekhd1	UTSW	12	80,722,321 (GRCm38)	missense	possibly damaging	0.90
R2070:Plekhd1	UTSW	12	80,692,907 (GRCm38)	nonsense	probably null
R2073:Plekhd1	UTSW	12	80,721,292 (GRCm38)	missense	probably benign	0.19
R2231:Plekhd1	UTSW	12	80,721,951 (GRCm38)	missense	possibly damaging	0.74
R2326:Plekhd1	UTSW	12	80,722,099 (GRCm38)	splice site	probably null
R3616:Plekhd1	UTSW	12	80,717,270 (GRCm38)	missense	probably damaging	1.00
R4899:Plekhd1	UTSW	12	80,722,327 (GRCm38)	missense	probably damaging	1.00
R4955:Plekhd1	UTSW	12	80,722,021 (GRCm38)	missense	possibly damaging	0.54
R5028:Plekhd1	UTSW	12	80,692,949 (GRCm38)	missense	probably damaging	1.00
R5446:Plekhd1	UTSW	12	80,720,636 (GRCm38)	missense	probably benign	0.00
R5615:Plekhd1	UTSW	12	80,720,590 (GRCm38)	missense	probably damaging	1.00
R5648:Plekhd1	UTSW	12	80,720,588 (GRCm38)	missense	probably damaging	1.00
R5766:Plekhd1	UTSW	12	80,722,366 (GRCm38)	missense	probably benign
R6534:Plekhd1	UTSW	12	80,707,257 (GRCm38)	missense	probably damaging	0.99
R7003:Plekhd1	UTSW	12	80,721,960 (GRCm38)	missense	possibly damaging	0.92
R7615:Plekhd1	UTSW	12	80,722,445 (GRCm38)	missense	probably benign	0.02
R7656:Plekhd1	UTSW	12	80,722,160 (GRCm38)	splice site	probably null
R8348:Plekhd1	UTSW	12	80,706,375 (GRCm38)	missense	probably damaging	0.97
R8448:Plekhd1	UTSW	12	80,706,375 (GRCm38)	missense	probably damaging	0.97
R8750:Plekhd1	UTSW	12	80,706,087 (GRCm38)	missense	probably damaging	1.00
R8883:Plekhd1	UTSW	12	80,720,594 (GRCm38)	missense	probably benign	0.13
R9220:Plekhd1	UTSW	12	80,721,952 (GRCm38)	missense	possibly damaging	0.95
R9235:Plekhd1	UTSW	12	80,722,017 (GRCm38)	missense	possibly damaging	0.69
R9553:Plekhd1	UTSW	12	80,707,203 (GRCm38)	missense	probably benign	0.09
R9604:Plekhd1	UTSW	12	80,692,957 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGGACTCTTCAGTTCTCATAG -3'
(R):5'- ACTTAGTTGCCTCTCCCAGG -3'

Sequencing Primer
(F):5'- GGACTCTTCAGTTCTCATAGTTTGGC -3'
(R):5'- TCTCAGGGCCAGGGCATC -3'

Posted On

2015-02-19