Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Prickle1'

579372

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

045548-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93396995-93493772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93406552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 157 (V157D)

Ref Sequence

ENSEMBL: ENSMUSP00000049204 (fasta)

Gene Model

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

AlphaFold

Q3U5C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048982
AA Change: V157D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: V157D

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: V157D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: V157D

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	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
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
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'- GAACAGTGGAATATTGGCCATTG -3'
(R):5'- TCACCAGCAGGAGTAGACAG -3'

Sequencing Primer
(F):5'- GGCTTATTTTTCCATCATTAAGGGG -3'
(R):5'- GTAGACAGAAATTAAAGCTGCCC -3'

Posted On

2019-10-07