Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:Prickle1'

379655

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

042514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93396995-93493772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93398429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 800 (S800P)

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: S800P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: S800P

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: S800P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: S800P

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: 98.3%
10x: 96.2%
20x: 91.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,213,505 (GRCm39)	D52G	possibly damaging	Het
Acaa1a	C	A	9: 119,171,827 (GRCm39)	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,904,361 (GRCm39)	R706*	probably null	Het
Best3	A	G	10: 116,844,886 (GRCm39)	Y347C	probably damaging	Het
Birc6	T	A	17: 74,872,900 (GRCm39)	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,144 (GRCm39)	T66S	probably benign	Het
Chd9	A	T	8: 91,760,858 (GRCm39)	D2201V	possibly damaging	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Dffb	T	A	4: 154,049,864 (GRCm39)		probably benign	Het
Diaph3	A	C	14: 87,244,635 (GRCm39)	C217W	probably damaging	Het
Eml2	T	A	7: 18,927,924 (GRCm39)		probably null	Het
Ercc5	T	C	1: 44,196,217 (GRCm39)	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,226,125 (GRCm39)		probably null	Het
Fsd1	C	T	17: 56,298,241 (GRCm39)	P189S	possibly damaging	Het
Gm42669	A	G	5: 107,656,683 (GRCm39)	K982R	probably damaging	Het
Gm5414	A	G	15: 101,533,445 (GRCm39)	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,221,498 (GRCm39)	L177P	possibly damaging	Het
Grip1	G	A	10: 119,767,153 (GRCm39)	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,237,014 (GRCm39)	M1K	probably null	Het
Hps3	C	A	3: 20,068,337 (GRCm39)	L572F	probably damaging	Het
Ighj2	T	A	12: 113,393,100 (GRCm39)		probably benign	Het
Kcna3	T	C	3: 106,945,207 (GRCm39)	M490T	probably benign	Het
Krt76	T	A	15: 101,796,597 (GRCm39)	K404*	probably null	Het
Lgr4	A	T	2: 109,836,847 (GRCm39)		probably null	Het
Ltbp4	G	T	7: 27,005,541 (GRCm39)	C1533*	probably null	Het
Mapre2	A	G	18: 23,965,990 (GRCm39)	N25S	probably damaging	Het
Mark3	T	A	12: 111,559,087 (GRCm39)	I43K	probably benign	Het
Mon1b	T	A	8: 114,368,585 (GRCm39)	Y495*	probably null	Het
Mrfap1	A	G	5: 36,954,089 (GRCm39)		probably benign	Het
Mxra8	A	G	4: 155,925,361 (GRCm39)		probably null	Het
Myoz1	A	T	14: 20,699,606 (GRCm39)	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,496,120 (GRCm39)	R5W	probably benign	Het
Nek11	T	C	9: 105,164,857 (GRCm39)	D423G	probably benign	Het
Nin	A	T	12: 70,090,837 (GRCm39)	D859E	probably damaging	Het
Nup210	G	A	6: 90,994,511 (GRCm39)	A1729V	probably benign	Het
Olfm3	A	G	3: 114,895,589 (GRCm39)	E157G	probably damaging	Het
Or1e1f	A	T	11: 73,856,166 (GRCm39)	H244L	probably damaging	Het
Reln	A	G	5: 22,130,191 (GRCm39)	S2707P	probably benign	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rexo4	G	A	2: 26,852,404 (GRCm39)	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,283,743 (GRCm39)	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,003,056 (GRCm39)	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,443,452 (GRCm39)	L914P	possibly damaging	Het
Slf1	T	A	13: 77,199,413 (GRCm39)	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,300,171 (GRCm39)	D1192G	probably damaging	Het
Tdrd6	A	C	17: 43,935,218 (GRCm39)	D1943E	probably benign	Het
Tmem163	G	A	1: 127,419,362 (GRCm39)	T281M	probably damaging	Het
Tmod3	A	G	9: 75,439,730 (GRCm39)	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,867,951 (GRCm39)	Q448L	probably benign	Het
Ulk1	A	T	5: 110,935,455 (GRCm39)	S937T	probably damaging	Het
Unc13c	T	A	9: 73,481,304 (GRCm39)	D1711V	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Utp20	G	T	10: 88,607,822 (GRCm39)	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,242,525 (GRCm39)	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,596 (GRCm39)	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,822,363 (GRCm39)	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,166,618 (GRCm39)	T838P	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wdr17	T	C	8: 55,082,896 (GRCm39)	D1268G	probably damaging	Het
Zfp108	T	A	7: 23,960,739 (GRCm39)	H443Q	probably damaging	Het
Zfp608	A	G	18: 55,079,663 (GRCm39)	V374A	probably damaging	Het
Zfp831	G	T	2: 174,486,417 (GRCm39)	G364V	probably damaging	Het
Zfp94	A	G	7: 24,003,166 (GRCm39)	V86A	probably benign	Het
Zkscan16	A	C	4: 58,946,506 (GRCm39)	N127T	possibly damaging	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
R2656:Prickle1	UTSW	15	93,401,251 (GRCm39)	missense	probably benign	0.32
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
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'- GGGCCACAGAAAGCATTTTACAC -3'
(R):5'- ATGCCACGTCTGATTACGC -3'

Sequencing Primer
(F):5'- GCGACTTTCCTAGGATGAATACAAG -3'
(R):5'- GTCTGATTACGCCCTGCAGAAC -3'

Posted On

2016-04-15