Mutagenetix > Incidental Mutation

Incidental Mutation 'R7003:Plekhd1'

544682

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

3830431G21Rik

MMRRC Submission

045108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80739375-80770990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80768734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 406 (C406R)

Ref Sequence

ENSEMBL: ENSMUSP00000119711 (fasta)

Gene Model

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

AlphaFold

B2RPU2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140770
AA Change: C406R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: C406R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,490 (GRCm39)	I275N	probably damaging	Het
Actr3b	A	C	5: 26,003,461 (GRCm39)	Y21S	probably damaging	Het
Adam6b	C	T	12: 113,453,662 (GRCm39)	Q160*	probably null	Het
Adgrv1	C	T	13: 81,670,223 (GRCm39)		probably null	Het
Akr1c6	A	G	13: 4,504,514 (GRCm39)	N300D	probably benign	Het
Alox8	T	C	11: 69,082,416 (GRCm39)	D170G	possibly damaging	Het
Amhr2	A	G	15: 102,354,768 (GRCm39)	N40S	probably benign	Het
Ap2a2	A	G	7: 141,209,109 (GRCm39)	N767S	probably benign	Het
Armc3	T	C	2: 19,274,839 (GRCm39)	I358T	probably damaging	Het
Atg2b	A	G	12: 105,620,508 (GRCm39)	S732P	probably benign	Het
Atp12a	A	G	14: 56,610,837 (GRCm39)	Y327C	possibly damaging	Het
Bcr	T	C	10: 74,897,393 (GRCm39)	V179A	probably benign	Het
Cep104	T	C	4: 154,078,018 (GRCm39)	L642P	probably benign	Het
Clspn	T	A	4: 126,486,513 (GRCm39)	S1302R	possibly damaging	Het
Cmip	T	C	8: 118,111,727 (GRCm39)	F153L	probably benign	Het
Cplane1	T	G	15: 8,258,246 (GRCm39)	L2164R	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,521 (GRCm39)	D97G	probably damaging	Het
Dok7	A	T	5: 35,236,899 (GRCm39)	T396S	probably benign	Het
Dsel	C	T	1: 111,788,025 (GRCm39)	V837I	probably benign	Het
Etl4	C	T	2: 20,810,695 (GRCm39)	T926I	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gpr155	A	G	2: 73,173,961 (GRCm39)	I816T	probably damaging	Het
Hpn	C	T	7: 30,810,367 (GRCm39)		probably benign	Het
Inpp5e	A	G	2: 26,287,877 (GRCm39)	S640P	probably benign	Het
Irs3	C	T	5: 137,643,539 (GRCm39)	V82I	probably benign	Het
Kif16b	A	C	2: 142,600,749 (GRCm39)	D461E	possibly damaging	Het
Krba1	A	G	6: 48,390,014 (GRCm39)	T592A	possibly damaging	Het
Lgsn	T	A	1: 31,243,024 (GRCm39)	S369T	possibly damaging	Het
Lrrc4b	C	T	7: 44,094,580 (GRCm39)	P83S	probably damaging	Het
Mplkipl1	A	G	19: 61,164,319 (GRCm39)	S39P	possibly damaging	Het
Neil3	T	C	8: 54,054,001 (GRCm39)	T343A	possibly damaging	Het
Nt5e	A	G	9: 88,246,805 (GRCm39)	Y347C	probably damaging	Het
Or1j1	A	G	2: 36,703,047 (GRCm39)	I19T	possibly damaging	Het
Or2d3b	A	T	7: 106,514,319 (GRCm39)	T305S	probably benign	Het
Or2f2	C	T	6: 42,767,399 (GRCm39)	T142I	probably benign	Het
Or8g26	A	T	9: 39,096,239 (GRCm39)	Y255F	probably benign	Het
P2rx5	T	C	11: 73,058,800 (GRCm39)		probably null	Het
Phtf2	A	G	5: 20,999,399 (GRCm39)	V248A	probably benign	Het
Plod3	T	A	5: 137,018,498 (GRCm39)	N245K	probably damaging	Het
Polr3c	G	T	3: 96,630,954 (GRCm39)	H155Q	possibly damaging	Het
Psap	T	A	10: 60,135,276 (GRCm39)	C317S	probably damaging	Het
Rif1	A	G	2: 51,967,001 (GRCm39)	I97V	probably benign	Het
Rnf123	T	A	9: 107,940,882 (GRCm39)		probably null	Het
Rnf19a	G	A	15: 36,254,650 (GRCm39)	R303*	probably null	Het
Sdk1	G	A	5: 142,082,489 (GRCm39)	V1036I	probably benign	Het
Shc3	T	A	13: 51,620,588 (GRCm39)	Y146F	probably benign	Het
Skint6	A	G	4: 112,963,109 (GRCm39)	Y441H	probably benign	Het
Slc7a12	T	C	3: 14,570,580 (GRCm39)	I173T	probably damaging	Het
Spesp1	A	T	9: 62,189,302 (GRCm39)	S15T	possibly damaging	Het
Tarm1	A	T	7: 3,545,939 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,693,479 (GRCm39)	Y1817C	probably damaging	Het
Ttc9c	A	T	19: 8,795,904 (GRCm39)	L45Q	probably damaging	Het
Ube3a	C	T	7: 58,926,188 (GRCm39)	T322I	probably damaging	Het
Vac14	T	A	8: 111,439,430 (GRCm39)	V669E	probably damaging	Het
Vmn1r225	A	G	17: 20,723,416 (GRCm39)	M286V	probably null	Het
Zfp658	A	G	7: 43,224,172 (GRCm39)	K816E	possibly damaging	Het
Zfp846	T	C	9: 20,499,188 (GRCm39)	M1T	probably null	Het

Other mutations in Plekhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02882:Plekhd1	APN	12	80,765,781 (GRCm39)	critical splice donor site	probably null
R0377:Plekhd1	UTSW	12	80,753,210 (GRCm39)	splice site	probably benign
R0462:Plekhd1	UTSW	12	80,768,352 (GRCm39)	missense	probably damaging	1.00
R0626:Plekhd1	UTSW	12	80,764,075 (GRCm39)	missense	probably damaging	1.00
R1125:Plekhd1	UTSW	12	80,753,998 (GRCm39)	missense	possibly damaging	0.83
R1344:Plekhd1	UTSW	12	80,739,659 (GRCm39)	missense	probably benign
R1418:Plekhd1	UTSW	12	80,739,659 (GRCm39)	missense	probably benign
R1694:Plekhd1	UTSW	12	80,769,095 (GRCm39)	missense	possibly damaging	0.90
R2070:Plekhd1	UTSW	12	80,739,681 (GRCm39)	nonsense	probably null
R2073:Plekhd1	UTSW	12	80,768,066 (GRCm39)	missense	probably benign	0.19
R2231:Plekhd1	UTSW	12	80,768,725 (GRCm39)	missense	possibly damaging	0.74
R2326:Plekhd1	UTSW	12	80,768,873 (GRCm39)	splice site	probably null
R3615:Plekhd1	UTSW	12	80,764,044 (GRCm39)	missense	probably damaging	1.00
R3616:Plekhd1	UTSW	12	80,764,044 (GRCm39)	missense	probably damaging	1.00
R4899:Plekhd1	UTSW	12	80,769,101 (GRCm39)	missense	probably damaging	1.00
R4955:Plekhd1	UTSW	12	80,768,795 (GRCm39)	missense	possibly damaging	0.54
R5028:Plekhd1	UTSW	12	80,739,723 (GRCm39)	missense	probably damaging	1.00
R5446:Plekhd1	UTSW	12	80,767,410 (GRCm39)	missense	probably benign	0.00
R5615:Plekhd1	UTSW	12	80,767,364 (GRCm39)	missense	probably damaging	1.00
R5648:Plekhd1	UTSW	12	80,767,362 (GRCm39)	missense	probably damaging	1.00
R5766:Plekhd1	UTSW	12	80,769,140 (GRCm39)	missense	probably benign
R6534:Plekhd1	UTSW	12	80,754,031 (GRCm39)	missense	probably damaging	0.99
R7615:Plekhd1	UTSW	12	80,769,219 (GRCm39)	missense	probably benign	0.02
R7656:Plekhd1	UTSW	12	80,768,934 (GRCm39)	splice site	probably null
R8348:Plekhd1	UTSW	12	80,753,149 (GRCm39)	missense	probably damaging	0.97
R8448:Plekhd1	UTSW	12	80,753,149 (GRCm39)	missense	probably damaging	0.97
R8750:Plekhd1	UTSW	12	80,752,861 (GRCm39)	missense	probably damaging	1.00
R8883:Plekhd1	UTSW	12	80,767,368 (GRCm39)	missense	probably benign	0.13
R9220:Plekhd1	UTSW	12	80,768,726 (GRCm39)	missense	possibly damaging	0.95
R9235:Plekhd1	UTSW	12	80,768,791 (GRCm39)	missense	possibly damaging	0.69
R9553:Plekhd1	UTSW	12	80,753,977 (GRCm39)	missense	probably benign	0.09
R9604:Plekhd1	UTSW	12	80,739,731 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCCTGGAGTTTTGTCCTC -3'
(R):5'- CTGGTTGAGCCACGTTCAAG -3'

Sequencing Primer
(F):5'- CTCTTCCTTTTAAAAAGCTCAGAGC -3'
(R):5'- GTTGAGCCACGTTCAAGGACATAC -3'

Posted On

2019-05-13