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, b2b019Clo, mpk1

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

93499114-93595891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93510777 bp (GRCm38)

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
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710	N736S	probably damaging	Het
F11	T	C	8: 45,249,077	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754		probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Mug2	G	T	6: 122,074,714	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243	R53G	probably benign	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	probably damaging	Het

Other mutations in Prickle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Prickle1	APN	15	93,500,781 (GRCm38)	missense	probably benign	0.29
IGL01641:Prickle1	APN	15	93,500,572 (GRCm38)	missense	probably benign	0.05
IGL01917:Prickle1	APN	15	93,503,527 (GRCm38)	missense	probably damaging	0.99
IGL02124:Prickle1	APN	15	93,503,146 (GRCm38)	missense	probably damaging	1.00
IGL02754:Prickle1	APN	15	93,501,153 (GRCm38)	missense	possibly damaging	0.94
P0028:Prickle1	UTSW	15	93,500,902 (GRCm38)	missense	probably damaging	1.00
R0134:Prickle1	UTSW	15	93,510,777 (GRCm38)	missense	possibly damaging	0.63
R0189:Prickle1	UTSW	15	93,503,019 (GRCm38)	nonsense	probably null
R0556:Prickle1	UTSW	15	93,500,781 (GRCm38)	missense	probably benign	0.29
R1144:Prickle1	UTSW	15	93,512,461 (GRCm38)	missense	probably damaging	0.99
R1440:Prickle1	UTSW	15	93,505,074 (GRCm38)	missense	possibly damaging	0.85
R1458:Prickle1	UTSW	15	93,500,638 (GRCm38)	missense	probably damaging	1.00
R2420:Prickle1	UTSW	15	93,503,637 (GRCm38)	missense	probably damaging	1.00
R2656:Prickle1	UTSW	15	93,503,370 (GRCm38)	missense	probably benign	0.32
R2864:Prickle1	UTSW	15	93,509,278 (GRCm38)	missense	probably damaging	0.99
R4301:Prickle1	UTSW	15	93,508,636 (GRCm38)	missense	possibly damaging	0.82
R4912:Prickle1	UTSW	15	93,500,548 (GRCm38)	missense	probably benign	0.00
R5085:Prickle1	UTSW	15	93,500,902 (GRCm38)	missense	probably damaging	1.00
R5773:Prickle1	UTSW	15	93,508,597 (GRCm38)	missense	probably damaging	1.00
R5836:Prickle1	UTSW	15	93,503,017 (GRCm38)	nonsense	probably null
R5902:Prickle1	UTSW	15	93,510,672 (GRCm38)	missense	probably null	0.82
R7022:Prickle1	UTSW	15	93,500,871 (GRCm38)	missense	possibly damaging	0.82
R7474:Prickle1	UTSW	15	93,508,671 (GRCm38)	missense	possibly damaging	0.88
R7851:Prickle1	UTSW	15	93,500,559 (GRCm38)	missense	possibly damaging	0.49
R9300:Prickle1	UTSW	15	93,500,868 (GRCm38)	missense	possibly damaging	0.89
R9405:Prickle1	UTSW	15	93,502,980 (GRCm38)	nonsense	probably null
X0066:Prickle1	UTSW	15	93,503,194 (GRCm38)	missense	probably benign	0.00
X0067:Prickle1	UTSW	15	93,508,681 (GRCm38)	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