Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Prickle2'

512506

Institutional Source

Beutler Lab

Gene Symbol

Prickle2

Ensembl Gene

ENSMUSG00000030020

Gene Name

prickle planar cell polarity protein 2

Synonyms

mpk2, 6230400G14Rik, Pk2, 6720451F06Rik

MMRRC Submission

044512-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92347889-92683136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 92435596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 2 (V2L)

Ref Sequence

ENSEMBL: ENSMUSP00000109074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032093] [ENSMUST00000113445] [ENSMUST00000113446] [ENSMUST00000113447]

AlphaFold

Q80Y24

Predicted Effect

probably benign
Transcript: ENSMUST00000032093
AA Change: V58L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: V58L

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:PET	76	176	1.2e-45	PFAM
LIM	185	242	3.05e-10	SMART
LIM	250	302	5.43e-16	SMART
LIM	310	365	2.92e-7	SMART
low complexity region	465	477	N/A	INTRINSIC
low complexity region	534	546	N/A	INTRINSIC
low complexity region	725	753	N/A	INTRINSIC
low complexity region	832	841	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113445
AA Change: V2L

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: V2L

Domain	Start	End	E-Value	Type
Pfam:PET	17	122	8.9e-47	PFAM
LIM	129	186	3.05e-10	SMART
LIM	194	246	5.43e-16	SMART
LIM	254	309	2.92e-7	SMART
low complexity region	409	421	N/A	INTRINSIC
low complexity region	478	490	N/A	INTRINSIC
low complexity region	669	697	N/A	INTRINSIC
low complexity region	776	785	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113446
AA Change: V2L

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: V2L

Domain	Start	End	E-Value	Type
Pfam:PET	17	122	8.9e-47	PFAM
LIM	129	186	3.05e-10	SMART
LIM	194	246	5.43e-16	SMART
LIM	254	309	2.92e-7	SMART
low complexity region	409	421	N/A	INTRINSIC
low complexity region	478	490	N/A	INTRINSIC
low complexity region	669	697	N/A	INTRINSIC
low complexity region	776	785	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113447
AA Change: V2L

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: V2L

Domain	Start	End	E-Value	Type
Pfam:PET	17	122	8.9e-47	PFAM
LIM	129	186	3.05e-10	SMART
LIM	194	246	5.43e-16	SMART
LIM	254	309	2.92e-7	SMART
low complexity region	409	421	N/A	INTRINSIC
low complexity region	478	490	N/A	INTRINSIC
low complexity region	669	697	N/A	INTRINSIC
low complexity region	776	785	N/A	INTRINSIC

Meta Mutation Damage Score

0.0827

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive or PTZ-induced seizures. Mice heterozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh5a1	T	G	13: 25,102,533 (GRCm39)	D310A	probably benign	Het
Als2cl	T	A	9: 110,724,514 (GRCm39)		probably null	Het
Amacr	C	A	15: 10,984,891 (GRCm39)	R170S	probably damaging	Het
Brwd1	C	T	16: 95,803,507 (GRCm39)	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,330,533 (GRCm39)		probably null	Het
Cd3d	G	A	9: 44,897,589 (GRCm39)	D157N	probably damaging	Het
Cep131	T	C	11: 119,955,516 (GRCm39)	D1043G	probably damaging	Het
Cimip1	T	G	2: 173,369,967 (GRCm39)		probably null	Het
Cit	A	G	5: 116,024,735 (GRCm39)	D326G	probably benign	Het
Col16a1	G	C	4: 129,959,983 (GRCm39)	G370R	unknown	Het
Col6a3	T	A	1: 90,738,285 (GRCm39)	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,347,549 (GRCm39)	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Daxx	G	A	17: 34,130,338 (GRCm39)	V118I	probably damaging	Het
Dennd5a	G	T	7: 109,533,472 (GRCm39)	C75*	probably null	Het
Diaph3	A	G	14: 87,009,566 (GRCm39)	L1071P	probably damaging	Het
Disp3	A	G	4: 148,338,765 (GRCm39)	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,473,024 (GRCm39)	V141A	probably benign	Het
Dsc2	A	T	18: 20,168,520 (GRCm39)	Y45*	probably null	Het
Dspp	A	G	5: 104,323,900 (GRCm39)	I348V	probably benign	Het
Epb42	C	A	2: 120,856,260 (GRCm39)	C428F	possibly damaging	Het
Fam227a	G	T	15: 79,527,551 (GRCm39)	P100Q	possibly damaging	Het
Fer1l4	C	T	2: 155,890,170 (GRCm39)	V252I	probably benign	Het
Fhod1	C	A	8: 106,058,273 (GRCm39)		probably null	Het
Fhod3	G	T	18: 24,887,312 (GRCm39)	A68S	probably benign	Het
Gatm	T	C	2: 122,428,677 (GRCm39)	D328G	probably benign	Het
Gm6401	G	T	14: 41,789,727 (GRCm39)	H44N	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,216,937 (GRCm39)	A380V	probably damaging	Het
Herc1	G	T	9: 66,379,190 (GRCm39)	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Jag2	T	A	12: 112,883,742 (GRCm39)	K246N	probably damaging	Het
Klhl32	T	C	4: 24,629,195 (GRCm39)	D524G	probably null	Het
Lax1	A	G	1: 133,608,334 (GRCm39)	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,764,725 (GRCm39)	K217E	probably benign	Het
Lgr5	A	G	10: 115,314,430 (GRCm39)	L169P	probably damaging	Het
Lrrc37	G	C	11: 103,511,478 (GRCm39)	N163K	unknown	Het
Mad1l1	A	T	5: 140,300,810 (GRCm39)	S29T	possibly damaging	Het
Man1a	T	C	10: 53,950,891 (GRCm39)	H77R	probably benign	Het
Met	C	T	6: 17,558,732 (GRCm39)	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,605 (GRCm39)	I250N	probably damaging	Het
Myod1	A	G	7: 46,026,305 (GRCm39)	H70R	possibly damaging	Het
Neb	T	C	2: 52,102,704 (GRCm39)	N4280S	probably benign	Het
Nudt6	T	C	3: 37,473,638 (GRCm39)	T28A	possibly damaging	Het
Nup85	A	G	11: 115,474,560 (GRCm39)	E628G	probably damaging	Het
Oaz3	A	T	3: 94,342,295 (GRCm39)	D120E	probably damaging	Het
Or2y3	A	T	17: 38,393,620 (GRCm39)	M83K	probably damaging	Het
Or5b102	A	T	19: 13,040,709 (GRCm39)		probably benign	Het
Or5be3	C	T	2: 86,863,633 (GRCm39)	A311T	probably benign	Het
Or5m8	C	A	2: 85,822,285 (GRCm39)	N41K	probably damaging	Het
Or6c1b	A	C	10: 129,272,812 (GRCm39)	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,108,929 (GRCm39)	K404*	probably null	Het
Pcdhga2	A	G	18: 37,803,958 (GRCm39)	N601D	probably damaging	Het
Pld2	T	C	11: 70,445,501 (GRCm39)	Y638H	probably damaging	Het
Pramel27	A	G	4: 143,579,435 (GRCm39)	Y340C	probably damaging	Het
Psmd6	G	A	14: 14,116,949 (GRCm38)	R125C	probably benign	Het
Rnaset2b	G	A	17: 7,259,093 (GRCm39)	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416 (GRCm39)	D574V	probably benign	Het
Scn8a	T	A	15: 100,837,996 (GRCm39)		probably null	Het
Sec11a	T	C	7: 80,572,879 (GRCm39)	E134G	probably benign	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,051,120 (GRCm39)		probably null	Het
Slc43a1	T	C	2: 84,690,128 (GRCm39)	L435P	probably damaging	Het
Spn	G	A	7: 126,735,895 (GRCm39)	P204L	possibly damaging	Het
Srr	T	A	11: 74,801,028 (GRCm39)	Q173L	probably damaging	Het
Star	C	G	8: 26,301,835 (GRCm39)	T222S	probably benign	Het
Timm22	T	A	11: 76,301,953 (GRCm39)	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,678,458 (GRCm39)	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,632,835 (GRCm39)	M1I	probably null	Het
Tmtc2	A	T	10: 105,205,831 (GRCm39)	I488N	probably damaging	Het
Tnxb	A	T	17: 34,913,362 (GRCm39)	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,296,867 (GRCm39)	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,132,323 (GRCm39)	V253E	possibly damaging	Het
Usf3	A	G	16: 44,038,940 (GRCm39)	D1140G	probably benign	Het
Usp10	T	C	8: 120,668,055 (GRCm39)	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,552,721 (GRCm39)	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,400,382 (GRCm39)	F222L	probably damaging	Het
Zfp654	G	A	16: 64,606,457 (GRCm39)	Q582*	probably null	Het
Zfp791	C	T	8: 85,846,279 (GRCm39)		probably benign	Het
Zfp879	T	A	11: 50,729,302 (GRCm39)	D32V	probably damaging	Het

Other mutations in Prickle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02962:Prickle2	APN	6	92,353,403 (GRCm39)	missense	probably benign	0.00
R0028:Prickle2	UTSW	6	92,399,323 (GRCm39)	missense	probably benign	0.12
R0122:Prickle2	UTSW	6	92,388,326 (GRCm39)	nonsense	probably null
R0555:Prickle2	UTSW	6	92,435,546 (GRCm39)	missense	probably benign	0.02
R0940:Prickle2	UTSW	6	92,387,984 (GRCm39)	missense	probably benign	0.02
R1394:Prickle2	UTSW	6	92,353,363 (GRCm39)	missense	possibly damaging	0.87
R1470:Prickle2	UTSW	6	92,435,583 (GRCm39)	missense	probably damaging	0.96
R1470:Prickle2	UTSW	6	92,435,583 (GRCm39)	missense	probably damaging	0.96
R1599:Prickle2	UTSW	6	92,387,855 (GRCm39)	missense	probably benign
R1745:Prickle2	UTSW	6	92,353,574 (GRCm39)	missense	probably damaging	1.00
R1801:Prickle2	UTSW	6	92,393,885 (GRCm39)	missense	probably damaging	0.98
R1985:Prickle2	UTSW	6	92,388,433 (GRCm39)	missense	probably damaging	1.00
R2085:Prickle2	UTSW	6	92,353,345 (GRCm39)	missense	probably damaging	0.96
R2147:Prickle2	UTSW	6	92,402,652 (GRCm39)	missense	probably damaging	0.99
R2148:Prickle2	UTSW	6	92,402,652 (GRCm39)	missense	probably damaging	0.99
R2571:Prickle2	UTSW	6	92,682,381 (GRCm39)	missense	probably benign	0.09
R3547:Prickle2	UTSW	6	92,388,118 (GRCm39)	missense	probably damaging	1.00
R4356:Prickle2	UTSW	6	92,388,490 (GRCm39)	missense	probably damaging	1.00
R4569:Prickle2	UTSW	6	92,399,323 (GRCm39)	missense	probably benign	0.12
R4896:Prickle2	UTSW	6	92,393,736 (GRCm39)	missense	probably benign	0.26
R5004:Prickle2	UTSW	6	92,393,736 (GRCm39)	missense	probably benign	0.26
R5045:Prickle2	UTSW	6	92,353,375 (GRCm39)	missense	probably damaging	0.96
R5219:Prickle2	UTSW	6	92,353,511 (GRCm39)	missense	probably benign
R5247:Prickle2	UTSW	6	92,352,950 (GRCm39)	missense	probably damaging	1.00
R5280:Prickle2	UTSW	6	92,353,191 (GRCm39)	missense	probably damaging	1.00
R5334:Prickle2	UTSW	6	92,402,665 (GRCm39)	missense	probably damaging	1.00
R5780:Prickle2	UTSW	6	92,435,593 (GRCm39)	missense	probably benign	0.06
R5960:Prickle2	UTSW	6	92,353,286 (GRCm39)	missense	probably benign	0.08
R6084:Prickle2	UTSW	6	92,393,829 (GRCm39)	nonsense	probably null
R6368:Prickle2	UTSW	6	92,397,218 (GRCm39)	missense	probably damaging	1.00
R6852:Prickle2	UTSW	6	92,353,525 (GRCm39)	missense	probably benign
R7041:Prickle2	UTSW	6	92,353,286 (GRCm39)	missense	probably benign	0.08
R7203:Prickle2	UTSW	6	92,387,959 (GRCm39)	missense	possibly damaging	0.61
R7352:Prickle2	UTSW	6	92,387,871 (GRCm39)	missense	probably benign	0.00
R7405:Prickle2	UTSW	6	92,435,524 (GRCm39)	missense	probably damaging	0.96
R7510:Prickle2	UTSW	6	92,353,451 (GRCm39)	missense	possibly damaging	0.58
R7562:Prickle2	UTSW	6	92,352,929 (GRCm39)	makesense	probably null
R7578:Prickle2	UTSW	6	92,388,271 (GRCm39)	missense	probably benign	0.32
R7614:Prickle2	UTSW	6	92,402,631 (GRCm39)	missense	possibly damaging	0.46
R7732:Prickle2	UTSW	6	92,388,205 (GRCm39)	missense	probably damaging	1.00
R7948:Prickle2	UTSW	6	92,393,903 (GRCm39)	missense	possibly damaging	0.84
R7984:Prickle2	UTSW	6	92,387,855 (GRCm39)	missense	probably benign
R8350:Prickle2	UTSW	6	92,353,483 (GRCm39)	missense	probably benign
R8404:Prickle2	UTSW	6	92,397,302 (GRCm39)	missense	probably damaging	0.96
R8988:Prickle2	UTSW	6	92,435,620 (GRCm39)	missense	possibly damaging	0.92
R9184:Prickle2	UTSW	6	92,388,505 (GRCm39)	missense	possibly damaging	0.46
R9348:Prickle2	UTSW	6	92,397,243 (GRCm39)	missense	probably benign	0.00
R9532:Prickle2	UTSW	6	92,683,096 (GRCm39)	missense	probably benign	0.00
R9755:Prickle2	UTSW	6	92,399,319 (GRCm39)	missense	probably damaging	1.00
X0020:Prickle2	UTSW	6	92,393,834 (GRCm39)	missense	probably damaging	0.98
X0026:Prickle2	UTSW	6	92,388,407 (GRCm39)	nonsense	probably null
X0066:Prickle2	UTSW	6	92,353,414 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTAAAGACACGGGAAGACTCC -3'
(R):5'- CCTAAGTGGCTTCCATATGGC -3'

Sequencing Primer
(F):5'- ACTCCGGGCAGATGGCTAC -3'
(R):5'- ACTGGCAAGTAGCCTCTT -3'

Posted On

2018-04-27