Mutagenetix > Incidental Mutation

Incidental Mutation 'R2148:Prickle2'

234008

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

040151-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R2148 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

92347889-92683136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92402652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 112 (L112P)

Ref Sequence

ENSEMBL: ENSMUSP00000032093 (fasta)

Gene Model

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

AlphaFold

Q80Y24

Predicted Effect

probably damaging
Transcript: ENSMUST00000032093
AA Change: L112P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: L112P

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: L56P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: L56P

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: L56P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: L56P

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: L56P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: L56P

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,565,764 (GRCm39)	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,315,835 (GRCm39)	M228K	probably damaging	Het
Agbl1	T	G	7: 76,064,465 (GRCm39)		probably null	Het
Ahi1	T	G	10: 20,846,875 (GRCm39)	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
Bop1	A	G	15: 76,339,487 (GRCm39)	V286A	probably damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cacna1a	A	T	8: 85,356,304 (GRCm39)	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Cnot2	A	G	10: 116,342,185 (GRCm39)	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,311,199 (GRCm39)	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dgkd	T	G	1: 87,809,643 (GRCm39)	N110K	probably damaging	Het
Dhx8	A	T	11: 101,629,203 (GRCm39)	R198*	probably null	Het
Dnah8	A	T	17: 30,956,232 (GRCm39)	I2071F	probably damaging	Het
Dsc3	C	T	18: 20,098,695 (GRCm39)	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333 (GRCm39)	F525L	possibly damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gpatch1	A	G	7: 34,998,701 (GRCm39)	V343A	probably benign	Het
Gpr139	A	G	7: 118,744,192 (GRCm39)	V131A	probably benign	Het
Hamp	T	C	7: 30,642,137 (GRCm39)	T34A	possibly damaging	Het
Homer2	T	G	7: 81,274,043 (GRCm39)	D51A	possibly damaging	Het
Hspa1l	C	T	17: 35,196,366 (GRCm39)	A135V	probably damaging	Het
Igsf10	A	G	3: 59,243,998 (GRCm39)	M112T	possibly damaging	Het
Ikbkb	A	T	8: 23,172,761 (GRCm39)	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,671,594 (GRCm39)	I158F	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Llcfc1	G	A	6: 41,662,155 (GRCm39)	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,592,631 (GRCm39)		probably null	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Mak	T	C	13: 41,195,513 (GRCm39)	K400R	probably benign	Het
Mgat4c	T	C	10: 102,224,790 (GRCm39)	F335L	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mtor	T	C	4: 148,540,469 (GRCm39)	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,087,429 (GRCm39)	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,013,733 (GRCm39)	K506*	probably null	Het
Or5d18	C	A	2: 87,864,943 (GRCm39)	C180F	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Phkb	A	G	8: 86,744,115 (GRCm39)	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,783,064 (GRCm39)	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,484,444 (GRCm39)		probably null	Het
Plod3	C	T	5: 137,016,627 (GRCm39)	R30*	probably null	Het
Ppfia4	T	C	1: 134,240,372 (GRCm39)	I591V	probably benign	Het
Ptgs2	G	T	1: 149,981,465 (GRCm39)	A583S	probably benign	Het
Pycr2	T	C	1: 180,734,413 (GRCm39)	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,273,807 (GRCm39)	D540G	probably benign	Het
Rasal1	T	A	5: 120,800,096 (GRCm39)	I150N	probably damaging	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Sacs	T	C	14: 61,410,827 (GRCm39)	L34P	probably damaging	Het
Sema3d	A	G	5: 12,534,926 (GRCm39)	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Slc19a2	T	C	1: 164,089,657 (GRCm39)	W158R	probably damaging	Het
Sorbs1	A	T	19: 40,365,268 (GRCm39)	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,636,447 (GRCm39)	D91V	probably damaging	Het
Tead3	A	G	17: 28,552,638 (GRCm39)	F187L	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Trap1	T	C	16: 3,878,624 (GRCm39)	D236G	probably damaging	Het
Trim45	T	A	3: 100,839,360 (GRCm39)	L754*	probably null	Het
Tubgcp5	A	G	7: 55,449,259 (GRCm39)	E152G	probably damaging	Het
Uaca	A	T	9: 60,776,961 (GRCm39)	L447F	probably damaging	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wdr11	A	G	7: 129,230,807 (GRCm39)		probably null	Het
Zfp462	T	A	4: 55,013,670 (GRCm39)	S1879T	probably benign	Het
Zfr2	T	G	10: 81,077,950 (GRCm39)	V259G	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
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
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'- TTTGGCAGCAATCTTACTGATCAC -3'
(R):5'- GCAATTCACTTGGCTCTGTC -3'

Sequencing Primer
(F):5'- TACTGATCACAATGATTAGGAAGAGG -3'
(R):5'- AATTCACTTGGCTCTGTCTTTTAGG -3'

Posted On

2014-10-01