Mutagenetix > Incidental Mutations

Incidental Mutation 'R7405:Prickle2'

574501

Institutional Source

Beutler Lab

Gene Symbol

Prickle2

Ensembl Gene

ENSMUSG00000030020

Gene Name

prickle planar cell polarity protein 2

Synonyms

6230400G14Rik, mpk2, 6720451F06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92370908-92706155 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92458543 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 82 (S82P)

Ref Sequence

ENSEMBL: ENSMUSP00000032093 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032093
AA Change: S82P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: S82P

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 damaging
Transcript: ENSMUST00000113445
AA Change: S26P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: S26P

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 damaging
Transcript: ENSMUST00000113446
AA Change: S26P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: S26P

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 damaging
Transcript: ENSMUST00000113447
AA Change: S26P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: S26P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,001,817	V383L	probably damaging	Het
1700012P22Rik	T	C	4: 144,419,753	N110S	probably damaging	Het
2410141K09Rik	T	C	13: 66,431,059	Q455R	unknown	Het
4930507D05Rik	C	A	10: 62,449,784	H96N	unknown	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
5730480H06Rik	T	C	5: 48,388,116	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,287,619	Y472H	probably damaging	Het
Adam39	A	T	8: 40,824,622	I17L	probably benign	Het
Aire	T	C	10: 78,034,613	H458R	probably benign	Het
Ap3d1	T	C	10: 80,741,900	D31G	probably benign	Het
Atad2b	T	A	12: 4,943,232	H250Q	probably benign	Het
Borcs5	C	A	6: 134,685,982	T74N	probably benign	Het
Btbd16	C	T	7: 130,805,856	T292I	probably benign	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ctr9	T	C	7: 111,043,714	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,481,815	S153G	probably benign	Het
Ddo	T	C	10: 40,647,997	C328R	possibly damaging	Het
Ddr1	A	G	17: 35,690,100	V251A	probably damaging	Het
Dis3l	A	G	9: 64,314,704	F475L	probably damaging	Het
Dkk4	G	A	8: 22,625,843	V99M	probably benign	Het
Dync1h1	C	T	12: 110,634,220	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,153,516		probably null	Het
Fbxo7	T	A	10: 86,044,581	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,607,068	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,415,881	A33V	probably damaging	Het
Gabra1	T	C	11: 42,155,023	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm884	A	T	11: 103,615,161	Y1994N	probably benign	Het
Golga3	A	T	5: 110,208,446	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,380,444	I563T	probably benign	Het
Gsx1	T	C	5: 147,189,133	S82P	possibly damaging	Het
Heg1	A	G	16: 33,763,449	K34E	possibly damaging	Het
Kank1	T	A	19: 25,410,319	L452*	probably null	Het
Lce1k	A	T	3: 92,806,874	M1K	probably null	Het
Lcmt2	A	G	2: 121,139,387	I185T	probably benign	Het
Lrp1	T	C	10: 127,581,751	D1046G	possibly damaging	Het
Mast3	A	T	8: 70,786,171	D496E	probably damaging	Het
Mst1r	C	T	9: 107,915,122	S925F	possibly damaging	Het
Mterf2	C	T	10: 85,120,496	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,311,874	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,507,194	W778R	probably damaging	Het
Nbea	A	G	3: 55,805,266	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,683,216	N30S	probably benign	Het
Nphs1	T	C	7: 30,462,828	V299A	possibly damaging	Het
Nup107	T	C	10: 117,770,415	D474G	probably benign	Het
Olfr1118	A	C	2: 87,308,995	I89L	probably benign	Het
Olfr1490	T	C	19: 13,654,882	V151A	probably benign	Het
Olfr225	T	A	11: 59,614,073	F370I	possibly damaging	Het
Olfr8	T	C	10: 78,955,697	V164A	probably benign	Het
Pgap2	T	C	7: 102,231,388	V41A	probably benign	Het
Plekhh1	C	T	12: 79,055,047	T297I	probably benign	Het
Plxna4	A	T	6: 32,196,319	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,684,179	D653G	probably benign	Het
Ppp2r2c	T	C	5: 36,947,142	F289L	possibly damaging	Het
Ptger2	T	A	14: 44,989,074	V37D	probably damaging	Het
Rasa2	G	A	9: 96,566,027	P526S	probably benign	Het
Rbm47	A	T	5: 66,026,495	I255N	probably damaging	Het
Sez6	A	T	11: 77,962,891	T296S	probably benign	Het
Slc2a9	T	A	5: 38,391,824	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,839,146	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,297,133	S2T	probably benign	Het
Slc9a4	C	T	1: 40,600,926	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Suco	A	G	1: 161,828,214	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,925,227	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,442,127	S2129P	probably benign	Het
Trim34b	T	A	7: 104,336,483	S442T	probably damaging	Het
Ttn	A	T	2: 76,743,346	Y25734*	probably null	Het
Uchl5	C	T	1: 143,800,014	Q276*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Yeats2	T	A	16: 20,222,913	D1184E	probably damaging	Het
Zfat	G	A	15: 68,184,485	R241W	probably damaging	Het
Zfp646	T	A	7: 127,878,796	Y48*	probably null	Het

Other mutations in Prickle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02962:Prickle2	APN	6	92376422	missense	probably benign	0.00
R0028:Prickle2	UTSW	6	92422342	missense	probably benign	0.12
R0122:Prickle2	UTSW	6	92411345	nonsense	probably null
R0555:Prickle2	UTSW	6	92458565	missense	probably benign	0.02
R0940:Prickle2	UTSW	6	92411003	missense	probably benign	0.02
R1394:Prickle2	UTSW	6	92376382	missense	possibly damaging	0.87
R1470:Prickle2	UTSW	6	92458602	missense	probably damaging	0.96
R1470:Prickle2	UTSW	6	92458602	missense	probably damaging	0.96
R1599:Prickle2	UTSW	6	92410874	missense	probably benign
R1745:Prickle2	UTSW	6	92376593	missense	probably damaging	1.00
R1801:Prickle2	UTSW	6	92416904	missense	probably damaging	0.98
R1985:Prickle2	UTSW	6	92411452	missense	probably damaging	1.00
R2085:Prickle2	UTSW	6	92376364	missense	probably damaging	0.96
R2147:Prickle2	UTSW	6	92425671	missense	probably damaging	0.99
R2148:Prickle2	UTSW	6	92425671	missense	probably damaging	0.99
R2571:Prickle2	UTSW	6	92705400	missense	probably benign	0.09
R3547:Prickle2	UTSW	6	92411137	missense	probably damaging	1.00
R4356:Prickle2	UTSW	6	92411509	missense	probably damaging	1.00
R4569:Prickle2	UTSW	6	92422342	missense	probably benign	0.12
R4896:Prickle2	UTSW	6	92416755	missense	probably benign	0.26
R5004:Prickle2	UTSW	6	92416755	missense	probably benign	0.26
R5045:Prickle2	UTSW	6	92376394	missense	probably damaging	0.96
R5219:Prickle2	UTSW	6	92376530	missense	probably benign
R5247:Prickle2	UTSW	6	92375969	missense	probably damaging	1.00
R5280:Prickle2	UTSW	6	92376210	missense	probably damaging	1.00
R5334:Prickle2	UTSW	6	92425684	missense	probably damaging	1.00
R5780:Prickle2	UTSW	6	92458612	missense	probably benign	0.06
R5960:Prickle2	UTSW	6	92376305	missense	probably benign	0.08
R6084:Prickle2	UTSW	6	92416848	nonsense	probably null
R6362:Prickle2	UTSW	6	92458615	missense	possibly damaging	0.77
R6368:Prickle2	UTSW	6	92420237	missense	probably damaging	1.00
R6852:Prickle2	UTSW	6	92376544	missense	probably benign
R7041:Prickle2	UTSW	6	92376305	missense	probably benign	0.08
R7203:Prickle2	UTSW	6	92410978	missense	possibly damaging	0.61
R7352:Prickle2	UTSW	6	92410890	missense	probably benign	0.00
R7510:Prickle2	UTSW	6	92376470	missense	possibly damaging	0.58
R7562:Prickle2	UTSW	6	92375948	makesense	probably null
R7578:Prickle2	UTSW	6	92411290	missense	probably benign	0.32
R7614:Prickle2	UTSW	6	92425650	missense	possibly damaging	0.46
R7732:Prickle2	UTSW	6	92411224	missense	probably damaging	1.00
X0020:Prickle2	UTSW	6	92416853	missense	probably damaging	0.98
X0026:Prickle2	UTSW	6	92411426	nonsense	probably null
X0066:Prickle2	UTSW	6	92376433	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATTGCCACACAACCCTGAGTC -3'
(R):5'- TTGGAATCCAGGACGGTGAC -3'

Sequencing Primer
(F):5'- TGAGTCAGCAGAGCCACCTTTC -3'
(R):5'- TCTAGGAAGATCTGCCTGC -3'

Posted On

2019-09-13