Mutagenetix > Incidental Mutation

Incidental Mutation 'R9024:Plekha5'

686421

Institutional Source

Beutler Lab

Gene Symbol

Plekha5

Ensembl Gene

ENSMUSG00000030231

Gene Name

pleckstrin homology domain containing, family A member 5

Synonyms

2810431N21Rik, PEPP2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R9024 (G1)

Quality Score

114.019

Status

Not validated

Chromosome

Chromosomal Location

140369780-140542836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140370176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 56 (S56G)

Ref Sequence

ENSEMBL: ENSMUSP00000084904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203517] [ENSMUST00000204145]

AlphaFold

E9Q6H8

Predicted Effect

probably benign
Transcript: ENSMUST00000087622
AA Change: S56G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: S56G

Domain	Start	End	E-Value	Type
WW	12	44	1.51e-3	SMART
WW	58	90	2.17e-4	SMART
PH	171	271	1.85e-17	SMART
Blast:PH	592	715	7e-39	BLAST
coiled coil region	747	781	N/A	INTRINSIC
low complexity region	896	916	N/A	INTRINSIC
low complexity region	924	938	N/A	INTRINSIC
low complexity region	1206	1224	N/A	INTRINSIC
low complexity region	1243	1258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203517
AA Change: S56G

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: S56G

Domain	Start	End	E-Value	Type
WW	12	44	9e-6	SMART
WW	58	90	1.3e-6	SMART
PH	171	271	8.6e-20	SMART
Blast:PH	586	697	3e-15	BLAST
coiled coil region	702	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204145
AA Change: S56G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
AA Change: S56G

Domain	Start	End	E-Value	Type
WW	12	44	9e-6	SMART
WW	58	90	1.3e-6	SMART
Blast:PH	114	151	6e-14	BLAST
PDB:2DKP\|A	163	196	1e-5	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	A	3: 137,891,923 (GRCm39)	A16S	unknown	Het
Aldh3b1	T	A	19: 3,968,155 (GRCm39)	I335F	probably damaging	Het
Asph	A	T	4: 9,475,025 (GRCm39)	Y650N	probably damaging	Het
Atr	T	C	9: 95,789,416 (GRCm39)	V1524A	possibly damaging	Het
Ccin	A	G	4: 43,983,562 (GRCm39)		probably benign	Het
Cdk15	A	T	1: 59,326,957 (GRCm39)	I213F	probably damaging	Het
Chfr	G	T	5: 110,306,698 (GRCm39)	S481I	probably benign	Het
Coro2a	T	C	4: 46,542,323 (GRCm39)	D350G	probably benign	Het
Ctps1	C	A	4: 120,406,707 (GRCm39)	E350*	probably null	Het
Dctn4	G	A	18: 60,678,894 (GRCm39)		probably null	Het
Epha4	C	A	1: 77,365,169 (GRCm39)	R610L	possibly damaging	Het
Esp4	A	T	17: 40,911,102 (GRCm39)	M1L	unknown	Het
Fads3	T	C	19: 10,033,839 (GRCm39)	V408A	probably damaging	Het
Gm19402	T	A	10: 77,525,805 (GRCm39)	K263*	probably null	Het
Gm26657	G	T	4: 56,740,769 (GRCm39)		probably benign	Het
Hsdl1	A	G	8: 120,290,839 (GRCm39)	V311A	probably benign	Het
Hsp90b1	A	G	10: 86,541,174 (GRCm39)	F16L	possibly damaging	Het
Icmt	T	C	4: 152,385,161 (GRCm39)	C208R	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ipo7	T	A	7: 109,643,943 (GRCm39)		probably null	Het
Kif21a	T	A	15: 90,821,399 (GRCm39)	K1465*	probably null	Het
Klhl9	A	T	4: 88,639,999 (GRCm39)	F81I	probably damaging	Het
Kynu	A	G	2: 43,490,807 (GRCm39)	H170R	possibly damaging	Het
Mmp12	A	G	9: 7,355,444 (GRCm39)	Y397C	probably damaging	Het
Mpped2	T	C	2: 106,614,043 (GRCm39)	F126L	probably benign	Het
Muc2	C	T	7: 141,287,936 (GRCm39)	P236S	probably damaging	Het
Myo10	A	G	15: 25,793,295 (GRCm39)	T1291A	possibly damaging	Het
Myom2	T	C	8: 15,113,936 (GRCm39)	L28P	probably damaging	Het
Nfatc2	T	C	2: 168,328,648 (GRCm39)	*924W	probably null	Het
Nrip1	G	T	16: 76,088,388 (GRCm39)	Y1056*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Oxr1	A	G	15: 41,694,518 (GRCm39)	Y20C	probably damaging	Het
P2ry2	T	C	7: 100,647,229 (GRCm39)	T359A	probably damaging	Het
Paxbp1	G	A	16: 90,840,963 (GRCm39)	R94C	possibly damaging	Het
Pbrm1	A	G	14: 30,783,623 (GRCm39)	Y569C	probably damaging	Het
Pkhd1	T	C	1: 20,592,975 (GRCm39)	T1713A	probably benign	Het
Plekhg5	T	C	4: 152,197,118 (GRCm39)	I801T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pogz	A	T	3: 94,785,543 (GRCm39)	N833Y	probably damaging	Het
Polk	G	T	13: 96,623,340 (GRCm39)	H501N	probably benign	Het
Ptprd	T	C	4: 75,874,567 (GRCm39)	N1043S	probably damaging	Het
Rad18	A	T	6: 112,626,562 (GRCm39)	C448S	probably benign	Het
Rhof	T	A	5: 123,269,963 (GRCm39)	K65*	probably null	Het
Rpa2	T	C	4: 132,499,153 (GRCm39)	V74A	probably damaging	Het
Smarcc1	T	C	9: 110,015,001 (GRCm39)	M522T	probably damaging	Het
Snai2	T	C	16: 14,524,769 (GRCm39)	S92P	probably benign	Het
Srrt	C	A	5: 137,301,291 (GRCm39)	R45L	unknown	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tubd1	T	G	11: 86,445,991 (GRCm39)	H210Q	possibly damaging	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Vmn2r63	T	G	7: 42,577,874 (GRCm39)	R221S	probably benign	Het
Vps13b	A	G	15: 35,923,470 (GRCm39)	I3782V	probably damaging	Het
Zfp184	T	A	13: 22,143,128 (GRCm39)	I278N	probably damaging	Het

Other mutations in Plekha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Plekha5	APN	6	140,515,822 (GRCm39)	splice site	probably benign
IGL00908:Plekha5	APN	6	140,496,656 (GRCm39)	missense	probably damaging	1.00
IGL01346:Plekha5	APN	6	140,480,292 (GRCm39)	splice site	probably benign
IGL01380:Plekha5	APN	6	140,516,042 (GRCm39)	splice site	probably benign
IGL01406:Plekha5	APN	6	140,518,676 (GRCm39)	missense	probably damaging	0.99
IGL01408:Plekha5	APN	6	140,516,042 (GRCm39)	splice site	probably benign
IGL01688:Plekha5	APN	6	140,515,115 (GRCm39)	missense	probably damaging	0.98
IGL01719:Plekha5	APN	6	140,515,855 (GRCm39)	missense	probably damaging	1.00
IGL01926:Plekha5	APN	6	140,471,642 (GRCm39)	missense	probably benign	0.12
IGL01936:Plekha5	APN	6	140,470,621 (GRCm39)	missense	probably damaging	1.00
IGL02326:Plekha5	APN	6	140,529,576 (GRCm39)	nonsense	probably null
IGL02544:Plekha5	APN	6	140,535,454 (GRCm39)	missense	possibly damaging	0.78
IGL02573:Plekha5	APN	6	140,527,742 (GRCm39)	missense	probably damaging	1.00
IGL02704:Plekha5	APN	6	140,489,592 (GRCm39)	missense	probably damaging	1.00
IGL02959:Plekha5	APN	6	140,489,904 (GRCm39)	missense	probably damaging	1.00
Doubletime	UTSW	6	140,471,655 (GRCm39)	nonsense	probably null
R0067:Plekha5	UTSW	6	140,470,629 (GRCm39)	missense	probably damaging	1.00
R0067:Plekha5	UTSW	6	140,470,629 (GRCm39)	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140,474,323 (GRCm39)	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140,474,323 (GRCm39)	missense	probably damaging	1.00
R0105:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0107:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0359:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0360:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0362:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0363:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0364:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0365:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0833:Plekha5	UTSW	6	140,535,360 (GRCm39)	splice site	probably benign
R0835:Plekha5	UTSW	6	140,514,576 (GRCm39)	nonsense	probably null
R0836:Plekha5	UTSW	6	140,535,360 (GRCm39)	splice site	probably benign
R0944:Plekha5	UTSW	6	140,515,922 (GRCm39)	splice site	probably benign
R2015:Plekha5	UTSW	6	140,480,290 (GRCm39)	critical splice donor site	probably null
R2043:Plekha5	UTSW	6	140,498,530 (GRCm39)	splice site	probably benign
R2086:Plekha5	UTSW	6	140,516,044 (GRCm39)	splice site	probably null
R2102:Plekha5	UTSW	6	140,518,603 (GRCm39)	missense	probably damaging	1.00
R2109:Plekha5	UTSW	6	140,369,942 (GRCm39)	missense	possibly damaging	0.56
R2135:Plekha5	UTSW	6	140,526,225 (GRCm39)	missense	possibly damaging	0.66
R2150:Plekha5	UTSW	6	140,516,129 (GRCm39)	missense	probably damaging	1.00
R2211:Plekha5	UTSW	6	140,471,587 (GRCm39)	missense	possibly damaging	0.56
R2414:Plekha5	UTSW	6	140,496,582 (GRCm39)	missense	probably damaging	1.00
R2915:Plekha5	UTSW	6	140,534,925 (GRCm39)	missense	probably damaging	0.96
R3120:Plekha5	UTSW	6	140,537,367 (GRCm39)	missense	probably benign	0.00
R3924:Plekha5	UTSW	6	140,516,105 (GRCm39)	missense	possibly damaging	0.78
R4049:Plekha5	UTSW	6	140,529,597 (GRCm39)	missense	probably damaging	1.00
R4056:Plekha5	UTSW	6	140,534,958 (GRCm39)	missense	possibly damaging	0.46
R4077:Plekha5	UTSW	6	140,501,647 (GRCm39)	splice site	probably null
R4320:Plekha5	UTSW	6	140,489,543 (GRCm39)	missense	possibly damaging	0.68
R4343:Plekha5	UTSW	6	140,501,780 (GRCm39)	missense	probably damaging	0.99
R4359:Plekha5	UTSW	6	140,537,414 (GRCm39)	missense	probably benign	0.07
R4377:Plekha5	UTSW	6	140,525,191 (GRCm39)	missense	probably damaging	1.00
R4480:Plekha5	UTSW	6	140,472,205 (GRCm39)	missense	probably damaging	1.00
R4533:Plekha5	UTSW	6	140,516,057 (GRCm39)	missense	probably damaging	1.00
R4623:Plekha5	UTSW	6	140,496,912 (GRCm39)	missense	probably damaging	0.98
R4672:Plekha5	UTSW	6	140,470,655 (GRCm39)	missense	probably damaging	0.98
R4871:Plekha5	UTSW	6	140,471,636 (GRCm39)	missense	probably damaging	1.00
R4903:Plekha5	UTSW	6	140,532,093 (GRCm39)	missense	probably damaging	1.00
R5121:Plekha5	UTSW	6	140,525,200 (GRCm39)	missense	probably damaging	1.00
R5156:Plekha5	UTSW	6	140,372,254 (GRCm39)	missense	probably damaging	1.00
R5376:Plekha5	UTSW	6	140,496,870 (GRCm39)	missense	probably damaging	1.00
R5445:Plekha5	UTSW	6	140,498,459 (GRCm39)	nonsense	probably null
R5753:Plekha5	UTSW	6	140,482,730 (GRCm39)	critical splice acceptor site	probably null
R5836:Plekha5	UTSW	6	140,372,250 (GRCm39)	missense	probably damaging	1.00
R5972:Plekha5	UTSW	6	140,518,639 (GRCm39)	missense	possibly damaging	0.78
R6196:Plekha5	UTSW	6	140,525,179 (GRCm39)	missense	probably benign	0.28
R6254:Plekha5	UTSW	6	140,532,162 (GRCm39)	missense	probably damaging	1.00
R6501:Plekha5	UTSW	6	140,471,655 (GRCm39)	nonsense	probably null
R6620:Plekha5	UTSW	6	140,518,601 (GRCm39)	missense	probably damaging	1.00
R6663:Plekha5	UTSW	6	140,523,016 (GRCm39)	missense	probably damaging	1.00
R6823:Plekha5	UTSW	6	140,471,584 (GRCm39)	missense	probably benign	0.16
R6992:Plekha5	UTSW	6	140,489,634 (GRCm39)	missense	probably damaging	1.00
R7196:Plekha5	UTSW	6	140,489,648 (GRCm39)	missense	possibly damaging	0.83
R7487:Plekha5	UTSW	6	140,516,059 (GRCm39)	missense	probably benign	0.25
R7493:Plekha5	UTSW	6	140,526,161 (GRCm39)	missense	probably benign	0.02
R7557:Plekha5	UTSW	6	140,372,271 (GRCm39)	missense	probably damaging	0.96
R7743:Plekha5	UTSW	6	140,501,712 (GRCm39)	missense	probably damaging	1.00
R7792:Plekha5	UTSW	6	140,534,950 (GRCm39)	missense	possibly damaging	0.80
R7808:Plekha5	UTSW	6	140,529,640 (GRCm39)	missense	probably damaging	1.00
R7910:Plekha5	UTSW	6	140,472,184 (GRCm39)	missense	possibly damaging	0.89
R7944:Plekha5	UTSW	6	140,526,201 (GRCm39)	missense	possibly damaging	0.48
R7945:Plekha5	UTSW	6	140,526,201 (GRCm39)	missense	possibly damaging	0.48
R7992:Plekha5	UTSW	6	140,472,267 (GRCm39)	missense	probably damaging	1.00
R8979:Plekha5	UTSW	6	140,496,818 (GRCm39)	missense	probably damaging	1.00
R9135:Plekha5	UTSW	6	140,480,239 (GRCm39)	missense	probably damaging	1.00
R9215:Plekha5	UTSW	6	140,501,733 (GRCm39)	missense	possibly damaging	0.79
R9241:Plekha5	UTSW	6	140,525,204 (GRCm39)	critical splice donor site	probably null
R9447:Plekha5	UTSW	6	140,525,192 (GRCm39)	missense	probably damaging	1.00
R9625:Plekha5	UTSW	6	140,372,253 (GRCm39)	missense	probably benign	0.24
X0027:Plekha5	UTSW	6	140,370,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTTCATCAAGTGAGCGGGC -3'
(R):5'- TTCCTAAAGGGTGCTGGAGG -3'

Sequencing Primer
(F):5'- TCAAGTGAgcgggcgggggaggcgcc -3'
(R):5'- GTGCTGGAGGCGGAGAC -3'

Posted On

2021-10-11