Mutagenetix > Incidental Mutation

Incidental Mutation 'R9405:Prickle1'

711494

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93396995-93493772 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 93400861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 541 (L541*)

Ref Sequence

ENSEMBL: ENSMUSP00000049204 (fasta)

Gene Model

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

AlphaFold

Q3U5C7

Predicted Effect

probably null
Transcript: ENSMUST00000048982
AA Change: L541*

SMART Domains

Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: L541*

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 null
Transcript: ENSMUST00000109255
AA Change: L541*

SMART Domains

Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: L541*

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,978,506 (GRCm39)	Q277L	probably damaging	Het
Adamts18	A	G	8: 114,430,030 (GRCm39)	V1135A	probably damaging	Het
Apobr	A	G	7: 126,184,704 (GRCm39)	S72G	possibly damaging	Het
Arl13b	T	A	16: 62,632,260 (GRCm39)	Q214L	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Asah2	T	G	19: 31,986,045 (GRCm39)	T542P	possibly damaging	Het
Asns	C	T	6: 7,689,283 (GRCm39)	C73Y	probably damaging	Het
Calhm2	T	A	19: 47,124,108 (GRCm39)	T79S	probably benign	Het
Cd300c2	T	G	11: 114,891,587 (GRCm39)	T96P	probably damaging	Het
Copb1	G	A	7: 113,822,458 (GRCm39)	T757I	possibly damaging	Het
Csmd3	T	A	15: 47,539,187 (GRCm39)	T1517S		Het
Ddx60	T	A	8: 62,425,248 (GRCm39)	L679M	probably benign	Het
Dip2b	A	G	15: 100,093,757 (GRCm39)	K1123R	probably benign	Het
Dnah17	A	G	11: 118,009,737 (GRCm39)	S612P	probably benign	Het
Dnah5	T	A	15: 28,272,306 (GRCm39)	C1037S	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ei24	A	T	9: 36,694,137 (GRCm39)	I244N	possibly damaging	Het
Epb41l4a	C	A	18: 33,943,271 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,398,703 (GRCm39)	M800T	possibly damaging	Het
Fcf1	T	G	12: 85,021,013 (GRCm39)	C98G	probably benign	Het
H2bc3	T	C	13: 23,931,141 (GRCm39)	Y122H	probably benign	Het
Hltf	G	T	3: 20,137,094 (GRCm39)	Q417H	possibly damaging	Het
Hmg20b	T	C	10: 81,185,258 (GRCm39)	S35G	probably benign	Het
Igkv4-57-1	T	G	6: 69,521,525 (GRCm39)	Y59S	probably damaging	Het
Irs2	C	T	8: 11,055,061 (GRCm39)	V1124I	possibly damaging	Het
Kprp	A	G	3: 92,731,560 (GRCm39)	C497R	unknown	Het
Krt15	A	T	11: 100,022,961 (GRCm39)	V418E	probably benign	Het
Lce1e	G	A	3: 92,615,312 (GRCm39)	P12S	unknown	Het
Lsmem1	T	C	12: 40,227,113 (GRCm39)	D124G	probably damaging	Het
Morc3	T	C	16: 93,642,036 (GRCm39)	F85S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,447 (GRCm39)	V204E	possibly damaging	Het
Myo7b	C	T	18: 32,109,356 (GRCm39)	A1172T	probably benign	Het
Nbeal1	T	A	1: 60,349,424 (GRCm39)	I2362N	probably damaging	Het
Nde1	T	G	16: 14,006,255 (GRCm39)	L261R	probably damaging	Het
Neurl1b	A	G	17: 26,658,265 (GRCm39)	D401G	probably benign	Het
Nfkb2	T	C	19: 46,296,839 (GRCm39)	V303A	probably damaging	Het
Nlrc5	C	T	8: 95,199,652 (GRCm39)	P88S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,912 (GRCm39)	I207F	possibly damaging	Het
Or4k36	T	A	2: 111,146,460 (GRCm39)	I212K	possibly damaging	Het
Or6c203	T	A	10: 129,010,165 (GRCm39)	M242L	probably benign	Het
Pde1c	T	A	6: 56,049,199 (GRCm39)	K705*	probably null	Het
Pear1	A	T	3: 87,659,890 (GRCm39)	F699I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prss39	G	A	1: 34,538,344 (GRCm39)	G70S	probably damaging	Het
Prune2	T	G	19: 17,193,708 (GRCm39)	N3065K	probably damaging	Het
Qrfprl	T	A	6: 65,433,078 (GRCm39)	N299K	probably benign	Het
Rdh5	A	C	10: 128,753,937 (GRCm39)	D127E	probably benign	Het
Ryr3	G	A	2: 112,664,612 (GRCm39)	H1580Y	probably damaging	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Scgb3a2	T	A	18: 43,900,129 (GRCm39)	L139Q	possibly damaging	Het
Six1	A	G	12: 73,093,095 (GRCm39)	S36P	probably damaging	Het
Slc30a5	T	C	13: 100,950,416 (GRCm39)	I281V	probably benign	Het
Snai2	T	A	16: 14,524,589 (GRCm39)	Y32N	probably benign	Het
Stat2	T	C	10: 128,114,634 (GRCm39)	S244P	probably damaging	Het
Syne1	A	G	10: 5,152,030 (GRCm39)	I5759T	probably damaging	Het
Tbc1d23	T	C	16: 57,012,985 (GRCm39)	N329S	possibly damaging	Het
Tex2	A	T	11: 106,435,214 (GRCm39)	S737R	unknown	Het
Trav13d-3	G	A	14: 53,270,715 (GRCm39)	R59H	probably benign	Het
Tspan9	C	T	6: 127,944,124 (GRCm39)	A59T	probably benign	Het
Usp53	G	A	3: 122,746,918 (GRCm39)	A349V	probably damaging	Het
Vmn1r188	T	C	13: 22,272,898 (GRCm39)	L284P	probably damaging	Het
Vmn2r85	T	C	10: 130,261,215 (GRCm39)	N374S	probably damaging	Het
Zfp622	A	T	15: 25,985,035 (GRCm39)	I134F	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
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
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
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'- TCCTCAACTACAAGACATGTCTGC -3'
(R):5'- TCAGTCTGATATGTACTGGGCC -3'

Sequencing Primer
(F):5'- CAACTACAAGACATGTCTGCTTTAC -3'
(R):5'- GCTGGGTGACTCTGCCTAC -3'

Posted On

2022-05-16