Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Prickle2'

252513

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

040429-MU

Accession Numbers

Essential gene?

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

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92347889-92683136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92682381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 25 (Q25R)

Ref Sequence

ENSEMBL: ENSMUSP00000032093 (fasta)

Gene Model

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

AlphaFold

Q80Y24

Predicted Effect

probably benign
Transcript: ENSMUST00000032093
AA Change: Q25R

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: Q25R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,289,044 (GRCm39)	N2438S	probably benign	Het
Ago3	G	A	4: 126,257,604 (GRCm39)	R476W	probably damaging	Het
Akap8	T	C	17: 32,534,429 (GRCm39)	E339G	probably damaging	Het
Apba2	T	C	7: 64,395,498 (GRCm39)	V658A	probably damaging	Het
Bcl3	T	C	7: 19,543,452 (GRCm39)	D338G	probably damaging	Het
Bpnt2	C	T	4: 4,778,192 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,349,044 (GRCm39)	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,428,393 (GRCm39)	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,399,944 (GRCm39)	C21Y	probably damaging	Het
Chil6	A	T	3: 106,297,709 (GRCm39)	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,112,092 (GRCm39)	R461C	probably damaging	Het
Col19a1	T	A	1: 24,413,712 (GRCm39)	R407S	unknown	Het
Crlf3	A	T	11: 79,938,339 (GRCm39)	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah10	A	T	5: 124,852,542 (GRCm39)	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,673,062 (GRCm39)	V911A	probably benign	Het
Dzip3	T	C	16: 48,792,581 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,128,795 (GRCm39)	Q10R	unknown	Het
Glra3	C	T	8: 56,563,516 (GRCm39)	A337V	probably benign	Het
H2-T5	C	T	17: 36,478,553 (GRCm39)	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,544,857 (GRCm39)	F163S	probably damaging	Het
Hells	T	C	19: 38,948,177 (GRCm39)	V701A	possibly damaging	Het
Helz	A	G	11: 107,504,778 (GRCm39)	T422A	probably benign	Het
Hhat	G	A	1: 192,235,330 (GRCm39)	T442I	probably damaging	Het
Hmces	A	T	6: 87,913,202 (GRCm39)	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,350,377 (GRCm39)	T97S	probably damaging	Het
Kcne2	C	T	16: 92,093,800 (GRCm39)	T109I	probably damaging	Het
Kcnq1	T	G	7: 142,661,433 (GRCm39)	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932 (GRCm39)	S1106P	probably benign	Het
Kel	C	A	6: 41,665,001 (GRCm39)	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,706,885 (GRCm39)	F1483I	probably benign	Het
Krt4	T	A	15: 101,829,692 (GRCm39)	N279Y	probably damaging	Het
Lama4	T	A	10: 38,918,671 (GRCm39)	M384K	possibly damaging	Het
Lepr	C	T	4: 101,625,369 (GRCm39)	T508I	possibly damaging	Het
Lypd10	A	G	7: 24,412,819 (GRCm39)	I76V	probably benign	Het
Map1lc3b	T	A	8: 122,320,213 (GRCm39)		probably null	Het
Me1	T	C	9: 86,536,751 (GRCm39)	H108R	probably damaging	Het
Mindy4	T	C	6: 55,261,770 (GRCm39)	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844 (GRCm39)	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,124,896 (GRCm39)	S826P	probably damaging	Het
Or13n4	T	A	7: 106,422,933 (GRCm39)	M267L	probably benign	Het
Osbpl7	T	C	11: 96,945,667 (GRCm39)	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,889,921 (GRCm39)	E310K	probably damaging	Het
Pcif1	A	G	2: 164,726,131 (GRCm39)	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,852,810 (GRCm39)	T63I	probably benign	Het
Ptk2	A	G	15: 73,103,768 (GRCm39)	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135 (GRCm38)	F333S	probably benign	Het
Rag2	T	A	2: 101,460,312 (GRCm39)	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,587,923 (GRCm39)		probably null	Het
Rps6ka4	G	T	19: 6,815,471 (GRCm39)	H174Q	probably damaging	Het
Rreb1	C	A	13: 38,083,613 (GRCm39)	T92K	probably damaging	Het
Ryr1	A	T	7: 28,708,987 (GRCm39)	M4793K	unknown	Het
Ryr1	T	A	7: 28,735,551 (GRCm39)	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,329,343 (GRCm39)	S891A	probably benign	Het
Sgsh	A	G	11: 119,241,340 (GRCm39)	Y132H	probably damaging	Het
Sos2	T	A	12: 69,682,492 (GRCm39)	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,184,198 (GRCm39)	R580L	probably damaging	Het
Spata9	C	A	13: 76,115,880 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,875,194 (GRCm39)	V202E	probably damaging	Het
Thada	T	C	17: 84,762,068 (GRCm39)	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Tra2a	G	T	6: 49,229,421 (GRCm39)		probably benign	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Ttc13	A	C	8: 125,410,538 (GRCm39)	Y372D	probably damaging	Het
Vit	T	C	17: 78,894,174 (GRCm39)	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,064,764 (GRCm39)	T41A	probably benign	Het
Vps13d	C	A	4: 144,875,706 (GRCm39)	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,335,127 (GRCm39)	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,540,614 (GRCm39)	L376P	probably damaging	Het
Zfp619	T	C	7: 39,186,595 (GRCm39)	L875P	probably damaging	Het
Zic5	T	A	14: 122,696,890 (GRCm39)	Q575L	unknown	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
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'- TAGCAGATGTAGCTGGGCTC -3'
(R):5'- ACCTGGAATCACATGCCCTTC -3'

Sequencing Primer
(F):5'- TGTAGCTGGGCTCTTAAAGGAAC -3'
(R):5'- GGAGAATCTGGTCCCAAGTC -3'

Posted On

2014-12-04