Mutagenetix > Incidental Mutation

Incidental Mutation 'R2656:Prickle1'

252801

Institutional Source

Beutler Lab

Gene Symbol

Prickle1

Ensembl Gene

ENSMUSG00000036158

Gene Name

prickle planar cell polarity protein 1

Synonyms

1110058P22Rik, mpk1, Pk1, b2b019Clo

MMRRC Submission

040431-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93396995-93493772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93401251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 411 (E411G)

Ref Sequence

ENSEMBL: ENSMUSP00000104878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048982] [ENSMUST00000109255]

AlphaFold

Q3U5C7

Predicted Effect

probably benign
Transcript: ENSMUST00000048982
AA Change: E411G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: E411G

Domain	Start	End	E-Value	Type
Pfam:PET	16	116	2.2e-46	PFAM
LIM	125	182	1.73e-9	SMART
LIM	190	242	1.13e-13	SMART
LIM	250	305	2.37e-7	SMART
low complexity region	314	343	N/A	INTRINSIC
low complexity region	667	684	N/A	INTRINSIC
low complexity region	758	776	N/A	INTRINSIC
low complexity region	817	827	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109255
AA Change: E411G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: E411G

Domain	Start	End	E-Value	Type
Pfam:PET	13	118	3.7e-46	PFAM
LIM	125	182	1.73e-9	SMART
LIM	190	242	1.13e-13	SMART
LIM	250	305	2.37e-7	SMART
low complexity region	314	343	N/A	INTRINSIC
low complexity region	667	684	N/A	INTRINSIC
low complexity region	758	776	N/A	INTRINSIC
low complexity region	817	827	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]
PHENOTYPE: Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,696 (GRCm39)	C655R	probably damaging	Het
Adgrf3	A	T	5: 30,401,436 (GRCm39)	V864D	possibly damaging	Het
Angptl3	A	G	4: 98,926,201 (GRCm39)	I444V	probably benign	Het
Atp8b2	C	T	3: 89,849,065 (GRCm39)	A1090T	probably benign	Het
Bcl2l2	C	T	14: 55,122,889 (GRCm39)	R47C	probably benign	Het
Ces2a	G	A	8: 105,462,766 (GRCm39)	M118I	probably benign	Het
Cyp4a29	T	G	4: 115,106,921 (GRCm39)	L193V	possibly damaging	Het
Dpp8	A	G	9: 64,988,086 (GRCm39)	Y877C	probably damaging	Het
Enpp6	C	T	8: 47,535,453 (GRCm39)	R33*	probably null	Het
Fsip2	G	A	2: 82,809,389 (GRCm39)	D1903N	possibly damaging	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Gm14412	A	T	2: 177,006,993 (GRCm39)	C301S	unknown	Het
Gpatch2l	T	A	12: 86,335,584 (GRCm39)	D428E	probably damaging	Het
Grin2b	C	T	6: 135,710,427 (GRCm39)	G1040S	probably damaging	Het
Has2	T	C	15: 56,545,224 (GRCm39)	D126G	possibly damaging	Het
Itgam	T	G	7: 127,715,987 (GRCm39)	L1120R	probably null	Het
Kank4	T	C	4: 98,667,194 (GRCm39)	N418D	probably damaging	Het
Kcnk3	T	C	5: 30,780,015 (GRCm39)	V355A	possibly damaging	Het
Lonrf2	C	T	1: 38,855,041 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 41,401,593 (GRCm39)	C240S	probably damaging	Het
Mapk8ip3	T	G	17: 25,131,781 (GRCm39)	E386A	probably damaging	Het
Mtmr14	A	G	6: 113,217,327 (GRCm39)	I80V	probably benign	Het
Nav2	A	C	7: 49,195,690 (GRCm39)	D961A	probably damaging	Het
Nmt2	A	G	2: 3,308,050 (GRCm39)	D107G	probably benign	Het
Nsd1	A	G	13: 55,394,681 (GRCm39)	K761E	probably damaging	Het
Ogdh	A	G	11: 6,298,678 (GRCm39)	T641A	probably benign	Het
Ogdhl	T	G	14: 32,054,783 (GRCm39)	F244V	possibly damaging	Het
Or2ag17	T	A	7: 106,389,720 (GRCm39)	T163S	probably damaging	Het
Or51k1	G	A	7: 103,661,072 (GRCm39)	S279L	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b97	A	G	19: 12,879,030 (GRCm39)	I38T	probably benign	Het
Pfpl	T	C	19: 12,407,600 (GRCm39)	I617T	probably benign	Het
Ppfia2	T	G	10: 106,701,268 (GRCm39)		probably null	Het
Prpsap2	C	A	11: 61,621,051 (GRCm39)	M343I	probably benign	Het
Prpsap2	A	G	11: 61,643,717 (GRCm39)	V72A	probably benign	Het
Ranbp17	A	T	11: 33,193,122 (GRCm39)	D977E	probably benign	Het
Rin1	T	C	19: 5,102,204 (GRCm39)	S238P	probably damaging	Het
Scap	C	T	9: 110,203,087 (GRCm39)	R254W	probably damaging	Het
Scn3a	T	C	2: 65,356,862 (GRCm39)	D194G	probably damaging	Het
Shisa7	T	C	7: 4,832,818 (GRCm39)	H481R	possibly damaging	Het
Slc6a6	T	C	6: 91,718,029 (GRCm39)	Y323H	probably damaging	Het
Thoc2l	A	G	5: 104,667,181 (GRCm39)	I568V	probably benign	Het
Tlr9	T	C	9: 106,101,140 (GRCm39)	S144P	probably benign	Het
Tmem69	T	A	4: 116,410,787 (GRCm39)	K61M	probably damaging	Het
Ttc21a	A	G	9: 119,770,331 (GRCm39)	D134G	probably damaging	Het
Ttn	A	G	2: 76,724,614 (GRCm39)		probably benign	Het
Vwf	A	G	6: 125,532,324 (GRCm39)	T26A	probably benign	Het
Zbtb16	A	T	9: 48,743,988 (GRCm39)	I108N	probably damaging	Het
Zc3h7b	T	A	15: 81,664,631 (GRCm39)	Y497N	probably damaging	Het
Zfp652	A	G	11: 95,640,155 (GRCm39)	S27G	probably damaging	Het
Zfp808	A	G	13: 62,320,666 (GRCm39)	T632A	possibly damaging	Het
Znhit6	T	C	3: 145,283,924 (GRCm39)		probably null	Het

Other mutations in Prickle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Prickle1	APN	15	93,398,662 (GRCm39)	missense	probably benign	0.29
IGL01641:Prickle1	APN	15	93,398,453 (GRCm39)	missense	probably benign	0.05
IGL01917:Prickle1	APN	15	93,401,408 (GRCm39)	missense	probably damaging	0.99
IGL02124:Prickle1	APN	15	93,401,027 (GRCm39)	missense	probably damaging	1.00
IGL02754:Prickle1	APN	15	93,399,034 (GRCm39)	missense	possibly damaging	0.94
P0028:Prickle1	UTSW	15	93,398,783 (GRCm39)	missense	probably damaging	1.00
R0134:Prickle1	UTSW	15	93,408,658 (GRCm39)	missense	possibly damaging	0.63
R0189:Prickle1	UTSW	15	93,400,900 (GRCm39)	nonsense	probably null
R0225:Prickle1	UTSW	15	93,408,658 (GRCm39)	missense	possibly damaging	0.63
R0556:Prickle1	UTSW	15	93,398,662 (GRCm39)	missense	probably benign	0.29
R1144:Prickle1	UTSW	15	93,410,342 (GRCm39)	missense	probably damaging	0.99
R1440:Prickle1	UTSW	15	93,402,955 (GRCm39)	missense	possibly damaging	0.85
R1458:Prickle1	UTSW	15	93,398,519 (GRCm39)	missense	probably damaging	1.00
R2420:Prickle1	UTSW	15	93,401,518 (GRCm39)	missense	probably damaging	1.00
R2864:Prickle1	UTSW	15	93,407,159 (GRCm39)	missense	probably damaging	0.99
R4301:Prickle1	UTSW	15	93,406,517 (GRCm39)	missense	possibly damaging	0.82
R4912:Prickle1	UTSW	15	93,398,429 (GRCm39)	missense	probably benign	0.00
R5085:Prickle1	UTSW	15	93,398,783 (GRCm39)	missense	probably damaging	1.00
R5773:Prickle1	UTSW	15	93,406,478 (GRCm39)	missense	probably damaging	1.00
R5836:Prickle1	UTSW	15	93,400,898 (GRCm39)	nonsense	probably null
R5902:Prickle1	UTSW	15	93,408,553 (GRCm39)	missense	probably null	0.82
R7022:Prickle1	UTSW	15	93,398,752 (GRCm39)	missense	possibly damaging	0.82
R7474:Prickle1	UTSW	15	93,406,552 (GRCm39)	missense	possibly damaging	0.88
R7851:Prickle1	UTSW	15	93,398,440 (GRCm39)	missense	possibly damaging	0.49
R9300:Prickle1	UTSW	15	93,398,749 (GRCm39)	missense	possibly damaging	0.89
R9405:Prickle1	UTSW	15	93,400,861 (GRCm39)	nonsense	probably null
X0066:Prickle1	UTSW	15	93,401,075 (GRCm39)	missense	probably benign	0.00
X0067:Prickle1	UTSW	15	93,406,562 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GGGCCCAGTACATATCAGACTG -3'
(R):5'- AGATCCAGAGACTCTCGCAG -3'

Sequencing Primer
(F):5'- CAGACTGATACTTTTTACTCGCGAGG -3'
(R):5'- GACCAGTGCCGACAGTCTCTTC -3'

Posted On

2014-12-04