Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Prickle2'

45458

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

038747-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R0555 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

92347889-92683136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92435546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 74 (F74L)

Ref Sequence

ENSEMBL: ENSMUSP00000032093 (fasta)

Gene Model

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

AlphaFold

Q80Y24

Predicted Effect

probably benign
Transcript: ENSMUST00000032093
AA Change: F74L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: F74L

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

probably benign
Transcript: ENSMUST00000113445
AA Change: F18L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: F18L

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

probably benign
Transcript: ENSMUST00000113446
AA Change: F18L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: F18L

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

probably benign
Transcript: ENSMUST00000113447
AA Change: F18L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: F18L

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

0.0965

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,661,516 (GRCm39)	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,670 (GRCm39)		probably benign	Het
Asap1	A	G	15: 63,966,213 (GRCm39)	L941P	probably damaging	Het
Aurka	G	A	2: 172,209,067 (GRCm39)	R23C	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381 (GRCm39)	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,293,503 (GRCm39)	A418T	possibly damaging	Het
Cplx3	T	C	9: 57,521,384 (GRCm39)	T193A	probably benign	Het
Cpxm2	A	T	7: 131,645,772 (GRCm39)	Y715*	probably null	Het
Csmd1	T	C	8: 16,235,287 (GRCm39)	M1179V	probably benign	Het
Ddx21	A	T	10: 62,423,307 (GRCm39)	F632I	probably damaging	Het
Dnai1	C	A	4: 41,625,335 (GRCm39)	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,225,191 (GRCm39)	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,044,862 (GRCm39)		probably null	Het
Dync1li2	A	T	8: 105,147,297 (GRCm39)	S466T	probably benign	Het
Ears2	T	C	7: 121,647,667 (GRCm39)	T206A	probably benign	Het
Elmod1	A	T	9: 53,838,876 (GRCm39)		probably benign	Het
Eps8l3	C	A	3: 107,799,661 (GRCm39)	D590E	probably benign	Het
Etfdh	A	T	3: 79,513,112 (GRCm39)	H370Q	probably benign	Het
Fam83g	C	A	11: 61,598,489 (GRCm39)	A792E	probably benign	Het
Ffar3	G	T	7: 30,554,962 (GRCm39)	Y119*	probably null	Het
Fosb	G	T	7: 19,041,138 (GRCm39)	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,401,175 (GRCm39)	L3F	probably damaging	Het
Foxo4	A	G	X: 100,298,784 (GRCm39)	K65E	probably damaging	Het
Frem2	A	G	3: 53,424,281 (GRCm39)	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,498,149 (GRCm39)	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927 (GRCm39)	G429C	probably damaging	Het
Gimap1	T	C	6: 48,718,363 (GRCm39)		probably benign	Het
Gnas	A	G	2: 174,140,304 (GRCm39)	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,789,740 (GRCm39)	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781 (GRCm39)		probably benign	Het
H2-M10.5	G	A	17: 37,085,620 (GRCm39)	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,225,222 (GRCm39)	Q412H	probably benign	Het
Hecw1	G	T	13: 14,411,526 (GRCm39)	T1058N	probably damaging	Het
Heph	A	T	X: 95,601,690 (GRCm39)	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,034,514 (GRCm39)	E53A	possibly damaging	Het
Insrr	T	G	3: 87,721,744 (GRCm39)		probably benign	Het
Ipo11	A	T	13: 107,028,969 (GRCm39)	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,276,217 (GRCm39)	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,061,568 (GRCm39)	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,758,868 (GRCm39)	S1027C	probably damaging	Het
Kprp	G	C	3: 92,731,664 (GRCm39)	P462R	unknown	Het
Lrit3	A	T	3: 129,584,945 (GRCm39)	V271D	probably damaging	Het
Map4	T	A	9: 109,808,171 (GRCm39)		probably benign	Het
Mark4	A	C	7: 19,182,598 (GRCm39)		probably benign	Het
Mfsd14b	A	G	13: 65,226,259 (GRCm39)	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,208,227 (GRCm39)	I162N	possibly damaging	Het
Mrpl43	A	T	19: 44,994,391 (GRCm39)		probably benign	Het
Mrpl47	A	G	3: 32,790,842 (GRCm39)	F16S	probably benign	Het
Myh2	G	T	11: 67,069,793 (GRCm39)	G380C	probably damaging	Het
Myo15a	T	C	11: 60,412,464 (GRCm39)	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,467,148 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,390 (GRCm39)	V111A	probably damaging	Het
Nol4l	T	C	2: 153,259,604 (GRCm39)		probably null	Het
Nphp3	C	A	9: 103,900,633 (GRCm39)	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,183,118 (GRCm39)		probably null	Het
Or14c39	A	G	7: 86,344,516 (GRCm39)	N284S	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or52ab7	T	C	7: 102,978,170 (GRCm39)	V159A	probably benign	Het
Or6c2	T	C	10: 129,362,765 (GRCm39)	I223T	possibly damaging	Het
Pex1	A	G	5: 3,656,130 (GRCm39)	E319G	possibly damaging	Het
Pgap6	T	C	17: 26,336,088 (GRCm39)	L130S	probably benign	Het
Phtf1	C	A	3: 103,911,785 (GRCm39)	T709K	probably damaging	Het
Plek2	A	T	12: 78,938,946 (GRCm39)	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,191,926 (GRCm39)	C421*	probably null	Het
Polk	A	C	13: 96,620,687 (GRCm39)	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,328,381 (GRCm39)	S471P	probably damaging	Het
Prl7d1	A	T	13: 27,896,038 (GRCm39)	V113D	probably benign	Het
Prr14	C	T	7: 127,071,267 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ret	A	G	6: 118,155,571 (GRCm39)	V375A	probably damaging	Het
Rora	T	C	9: 69,269,028 (GRCm39)	F41S	probably damaging	Het
Sall1	T	C	8: 89,758,386 (GRCm39)	T573A	probably benign	Het
Shb	A	G	4: 45,458,321 (GRCm39)	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,569,391 (GRCm39)		probably null	Het
Sltm	T	C	9: 70,493,363 (GRCm39)	F769L	probably damaging	Het
Snx9	T	A	17: 5,968,688 (GRCm39)	M328K	probably damaging	Het
Stk25	G	T	1: 93,552,313 (GRCm39)	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858 (GRCm39)	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,016,169 (GRCm39)	A195T	probably damaging	Het
Tmem217b	A	T	17: 29,738,545 (GRCm39)	F74I	probably benign	Het
Trcg1	C	T	9: 57,149,616 (GRCm39)	T396M	probably damaging	Het
Trim30b	A	G	7: 104,006,505 (GRCm39)	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,209,511 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,727,439 (GRCm39)	H827R	probably damaging	Het
Tut7	A	G	13: 59,948,131 (GRCm39)	V328A	probably benign	Het
Urgcp	T	C	11: 5,667,477 (GRCm39)	E287G	probably damaging	Het
Usp2	G	T	9: 44,004,081 (GRCm39)	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,204,512 (GRCm39)	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,442 (GRCm39)	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,577,952 (GRCm39)	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,129,283 (GRCm39)	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,670,818 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,807,194 (GRCm39)	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,653,028 (GRCm39)		probably benign	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
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
R6362:Prickle2	UTSW	6	92,435,596 (GRCm39)	missense	possibly damaging	0.77
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'- GCAGAGCCACCTTTCCCTTCTAAG -3'
(R):5'- GTTAGCACACTCACCTGGTAGTTCC -3'

Sequencing Primer
(F):5'- CCTTCTAAGCTGGGGTATGGAAAC -3'
(R):5'- AGGAGCACATGGTAACAGTG -3'

Posted On

2013-06-11