Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Prickle2'

341996

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

041793-MU

Accession Numbers

Essential gene?

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

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92347889-92683136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92399323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 185 (I185V)

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: I185V

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: I185V

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: I129V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: I129V

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: I129V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: I129V

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: I129V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: I129V

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

0.1053

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly 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
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'- GAAGCCATCACTCTGTGTGGTC -3'
(R):5'- ACTTCCCTGGAGCAATGACG -3'

Sequencing Primer
(F):5'- GAAACCACCTTCTCAGTGTGG -3'
(R):5'- AGCAATGACGCCTCCTCTGTG -3'

Posted On

2015-09-24