Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Prickle1'

33879

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

038470-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0225 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

93396995-93493772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93408658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 47 (L47P)

Ref Sequence

ENSEMBL: ENSMUSP00000104878 (fasta)

Gene Model

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

AlphaFold

Q3U5C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048982
AA Change: L47P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: L47P

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

possibly damaging
Transcript: ENSMUST00000109255
AA Change: L47P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: L47P

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

Meta Mutation Damage Score

0.1515

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Col18a1	T	C	10: 76,924,748 (GRCm39)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
F11	T	C	8: 45,702,114 (GRCm39)	T267A	probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,766,181 (GRCm39)	N11S	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Gm10647	A	G	9: 66,705,777 (GRCm39)		probably benign	Het
Gm10936	G	A	10: 117,084,035 (GRCm39)		noncoding transcript	Het
Gzmd	A	G	14: 56,367,161 (GRCm39)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kat2b	A	G	17: 53,948,238 (GRCm39)	E336G	probably damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif23	C	G	9: 61,832,976 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,770,261 (GRCm39)	I109L	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or4k5	T	G	14: 50,386,092 (GRCm39)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,887,574 (GRCm39)	I201V	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,011,412 (GRCm39)	S224R	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Skor2	A	T	18: 76,946,793 (GRCm39)	I172F	unknown	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
St14	T	A	9: 31,019,580 (GRCm39)		probably null	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,168,734 (GRCm39)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,268,256 (GRCm39)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,413,865 (GRCm39)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,439,105 (GRCm39)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,807,556 (GRCm39)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zyg11a	G	A	4: 108,061,838 (GRCm39)	T321I	probably 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
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
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'- GGTGCATTTTAAGAGAGGCCGAGC -3'
(R):5'- GGTCACTTACAGAAGTCACCCAGC -3'

Sequencing Primer
(F):5'- agctgggacttcagaaagac -3'
(R):5'- GCATTCCTGAGGAGCAATTTAGC -3'

Posted On

2013-05-09