Mutagenetix > Incidental Mutation

Incidental Mutation 'R6620:Plekha5'

528128

Institutional Source

Beutler Lab

Gene Symbol

Plekha5

Ensembl Gene

ENSMUSG00000030231

Gene Name

pleckstrin homology domain containing, family A member 5

Synonyms

2810431N21Rik, PEPP2

MMRRC Submission

044743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R6620 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140369780-140542836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140518601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 296 (R296Q)

Ref Sequence

ENSEMBL: ENSMUSP00000144973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000203517] [ENSMUST00000204080] [ENSMUST00000205026] [ENSMUST00000213444] [ENSMUST00000204145]

AlphaFold

E9Q6H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087622
AA Change: R820Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: R820Q

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

possibly damaging
Transcript: ENSMUST00000203012
AA Change: R341Q

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: R341Q

Domain	Start	End	E-Value	Type
Blast:PH	210	250	2e-8	BLAST
coiled coil region	268	302	N/A	INTRINSIC
low complexity region	417	437	N/A	INTRINSIC
low complexity region	445	459	N/A	INTRINSIC
low complexity region	727	745	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203315

Predicted Effect

probably benign
Transcript: ENSMUST00000203483

SMART Domains

Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231

Domain	Start	End	E-Value	Type
low complexity region	261	279	N/A	INTRINSIC
low complexity region	298	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203517
AA Change: R775Q

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: R775Q

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

unknown
Transcript: ENSMUST00000203955
AA Change: R667Q

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204080
AA Change: R351Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: R351Q

Domain	Start	End	E-Value	Type
Blast:PH	220	260	1e-8	BLAST
coiled coil region	278	312	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205026
AA Change: R296Q

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

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: R296Q

Domain	Start	End	E-Value	Type
Blast:PH	165	205	1e-8	BLAST
coiled coil region	223	257	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213444
AA Change: R147Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000204145

SMART Domains

Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205255

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	T	3: 36,120,294 (GRCm39)	A13S	possibly damaging	Het
Ahnak	G	A	19: 8,992,674 (GRCm39)	E4653K	possibly damaging	Het
Apc2	C	T	10: 80,149,401 (GRCm39)	P1485L	probably damaging	Het
Atp9b	A	T	18: 80,851,902 (GRCm39)	L397*	probably null	Het
Ces1e	C	A	8: 93,950,546 (GRCm39)	K79N	probably damaging	Het
Col12a1	A	C	9: 79,527,331 (GRCm39)	I2666M	probably damaging	Het
Dock10	T	A	1: 80,570,355 (GRCm39)	N361I	probably benign	Het
Dock3	C	A	9: 106,815,125 (GRCm39)	M1247I	probably benign	Het
Evi5l	C	A	8: 4,256,674 (GRCm39)	A720E	possibly damaging	Het
F5	T	C	1: 164,014,375 (GRCm39)	F549L	probably damaging	Het
Gpx2	T	C	12: 76,839,674 (GRCm39)	N108S	possibly damaging	Het
Ifnar1	T	C	16: 91,293,155 (GRCm39)		probably null	Het
Kcnj16	T	C	11: 110,915,473 (GRCm39)	V45A	probably damaging	Het
Kng1	T	C	16: 22,900,232 (GRCm39)	L402P	possibly damaging	Het
Lct	C	A	1: 128,222,809 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,112,888 (GRCm39)	K106N	probably benign	Het
Map3k13	A	T	16: 21,711,061 (GRCm39)	I115F	possibly damaging	Het
Mapre2	T	C	18: 23,991,002 (GRCm39)	V123A	probably benign	Het
Mtfr1l	A	G	4: 134,256,394 (GRCm39)		probably null	Het
Or10g6	T	A	9: 39,934,225 (GRCm39)	C179S	probably damaging	Het
Or4c99	A	G	2: 88,356,743 (GRCm39)	Y272C	probably damaging	Het
Pbxip1	G	A	3: 89,355,133 (GRCm39)	V551I	probably benign	Het
Pcdha8	T	C	18: 37,125,581 (GRCm39)	I21T	probably benign	Het
Psme2	A	C	14: 55,825,928 (GRCm39)	D126E	probably damaging	Het
Psmg2	T	C	18: 67,774,807 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,291,629 (GRCm39)		probably null	Het
Sdr39u1	C	T	14: 56,135,172 (GRCm39)	R257H	probably damaging	Het
Sorbs2	G	T	8: 46,249,213 (GRCm39)	R802S	probably damaging	Het
Spata31	A	G	13: 65,067,571 (GRCm39)	N78D	possibly damaging	Het
Spatc1l	A	G	10: 76,405,756 (GRCm39)	D320G	probably damaging	Het
Ttc8	T	C	12: 98,923,579 (GRCm39)	Y212H	possibly damaging	Het
Vmn2r112	G	A	17: 22,822,082 (GRCm39)	M253I	probably benign	Het
Zbed5	A	G	5: 129,932,130 (GRCm39)	E693G	possibly damaging	Het
Zfp808	T	A	13: 62,320,638 (GRCm39)	N622K	probably benign	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
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
R9024:Plekha5	UTSW	6	140,370,176 (GRCm39)	missense	probably benign	0.10
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'- TTCAATCTTCAGCACTGCCAAAG -3'
(R):5'- TCACTGAAGACACTCCACTGTG -3'

Sequencing Primer
(F):5'- GGCATCCAATCTCATGACAGATGG -3'
(R):5'- TGTATCCGCAGAGGCCAACAG -3'

Posted On

2018-07-24