Mutagenetix > Incidental Mutation

Incidental Mutation 'R8084:Pals1'

629539

Institutional Source

Beutler Lab

Gene Symbol

Pals1

Ensembl Gene

ENSMUSG00000021112

Gene Name

protein associated with LIN7 1, MAGUK family member

Synonyms

3830420B02Rik, Pals1, Mpp5

MMRRC Submission

067517-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R8084 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

78795681-78887488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78867625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 336 (Q336L)

Ref Sequence

ENSEMBL: ENSMUSP00000080683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197]

AlphaFold

Q9JLB2

PDB Structure

Solution structure of the PDZ domain of Pals1 protein [SOLUTION NMR]
2.1 Angstrom crystal structure of the PALS-1-L27N and PATJ L27 heterodimer complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000082024
AA Change: Q336L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: Q336L

Domain	Start	End	E-Value	Type
coiled coil region	54	76	N/A	INTRINSIC
L27	123	180	2.04e-10	SMART
L27	186	238	7.39e-8	SMART
PDZ	265	336	5.99e-13	SMART
SH3	348	416	1.2e-10	SMART
low complexity region	439	454	N/A	INTRINSIC
GuKc	478	663	1.72e-64	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219197

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,323,979 (GRCm39)	Y190N	probably benign	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Acss1	T	A	2: 150,484,701 (GRCm39)	I181F	probably damaging	Het
Ano5	A	G	7: 51,229,287 (GRCm39)	I610V	probably benign	Het
Anxa6	A	T	11: 54,894,834 (GRCm39)	F256I	probably damaging	Het
Ash2l	A	G	8: 26,321,322 (GRCm39)	S273P	probably benign	Het
Baz2b	T	G	2: 59,792,580 (GRCm39)	E516A	probably benign	Het
Bbs2	G	T	8: 94,814,056 (GRCm39)	D187E	probably damaging	Het
Cacna1b	T	A	2: 24,575,808 (GRCm39)	M747L	probably benign	Het
Cacna2d4	C	A	6: 119,277,313 (GRCm39)	D675E	probably damaging	Het
Calcr	G	A	6: 3,687,615 (GRCm39)	T461M	probably benign	Het
Catip	A	G	1: 74,403,515 (GRCm39)	K126E	probably damaging	Het
Chga	T	C	12: 102,528,328 (GRCm39)	I273T	probably benign	Het
Clasp2	G	A	9: 113,676,823 (GRCm39)	V185I	probably benign	Het
Cracr2a	A	G	6: 127,616,135 (GRCm39)	N370S	probably benign	Het
Crygc	A	T	1: 65,110,981 (GRCm39)	V102D	probably benign	Het
Ddx23	A	G	15: 98,556,145 (GRCm39)	S58P	unknown	Het
Dlgap5	C	T	14: 47,645,298 (GRCm39)	G281D	probably benign	Het
Dnah5	A	T	15: 28,388,099 (GRCm39)	Y3186F	probably damaging	Het
Dpp6	A	C	5: 27,836,397 (GRCm39)	I296L	probably benign	Het
Elfn2	C	T	15: 78,556,660 (GRCm39)	R629H	probably damaging	Het
Eml2	G	T	7: 18,915,149 (GRCm39)		probably null	Het
Fitm1	T	A	14: 55,813,906 (GRCm39)	V134E	probably damaging	Het
Flnb	A	G	14: 7,907,243 (GRCm38)	N1272S	probably benign	Het
Fuca1	G	A	4: 135,662,114 (GRCm39)	W347*	probably null	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gls2	G	A	10: 128,035,125 (GRCm39)	R86H	probably damaging	Het
Grin2b	T	C	6: 135,710,486 (GRCm39)	K1020R	probably benign	Het
H2-DMb1	T	A	17: 34,376,327 (GRCm39)	W149R	probably damaging	Het
Herc1	T	A	9: 66,383,217 (GRCm39)	S3629R	probably benign	Het
Itih4	A	T	14: 30,621,400 (GRCm39)	N821I	possibly damaging	Het
Kmt2d	A	T	15: 98,739,945 (GRCm39)	L4731Q	unknown	Het
Loxhd1	A	T	18: 77,427,845 (GRCm39)	I472F	possibly damaging	Het
Lrp2	C	A	2: 69,339,713 (GRCm39)	C1066F	probably damaging	Het
Mllt10	T	A	2: 18,114,637 (GRCm39)	F114I	probably damaging	Het
N4bp1	T	C	8: 87,587,636 (GRCm39)	E434G	probably benign	Het
N6amt1	T	C	16: 87,151,228 (GRCm39)	F30L	probably damaging	Het
Naca	G	A	10: 127,877,400 (GRCm39)	V811I	unknown	Het
Nobox	A	C	6: 43,282,101 (GRCm39)	I324S	possibly damaging	Het
Nup210l	T	C	3: 90,043,365 (GRCm39)	S442P	probably benign	Het
Or6c2	A	T	10: 129,362,809 (GRCm39)	T238S	probably damaging	Het
Osbpl1a	A	T	18: 13,038,099 (GRCm39)	L284Q	probably damaging	Het
Pcdhb20	A	C	18: 37,639,226 (GRCm39)	Y584S	possibly damaging	Het
Pgpep1l	A	T	7: 67,887,519 (GRCm39)	F27Y	probably benign	Het
Pik3cg	T	G	12: 32,245,687 (GRCm39)	I854L	probably benign	Het
Pot1a	C	T	6: 25,771,535 (GRCm39)	V229M	possibly damaging	Het
Prh1	C	T	6: 132,548,822 (GRCm39)	P110S	unknown	Het
Prkag3	C	T	1: 74,786,366 (GRCm39)	C193Y	probably damaging	Het
Prl2c5	T	C	13: 13,360,539 (GRCm39)	F69L	probably benign	Het
Ptprq	T	C	10: 107,444,294 (GRCm39)	T1437A	probably benign	Het
Rabgap1	T	C	2: 37,427,317 (GRCm39)	Y633H	probably damaging	Het
Rad54l2	G	A	9: 106,590,701 (GRCm39)	T475I	possibly damaging	Het
Retreg1	C	A	15: 25,969,885 (GRCm39)	A130E	probably benign	Het
Rps6kb1	G	T	11: 86,426,262 (GRCm39)	H56N	probably benign	Het
Sars2	A	G	7: 28,449,710 (GRCm39)	H385R	probably damaging	Het
Sbpl	T	G	17: 24,172,244 (GRCm39)	N225T	unknown	Het
Scml4	T	C	10: 42,806,602 (GRCm39)		probably null	Het
Scrib	G	A	15: 75,937,940 (GRCm39)	T302M	probably benign	Het
Sdk2	G	A	11: 113,717,915 (GRCm39)	T1483I	possibly damaging	Het
Sh3bgrl3	A	G	4: 133,855,390 (GRCm39)	S19P	probably damaging	Het
Slc10a6	C	T	5: 103,760,327 (GRCm39)	V223I	probably benign	Het
Slc4a3	A	G	1: 75,532,589 (GRCm39)	T950A	probably benign	Het
Spats2	A	T	15: 99,064,961 (GRCm39)	D9V	possibly damaging	Het
Sphk1	A	T	11: 116,425,904 (GRCm39)		probably null	Het
Tex10	A	T	4: 48,431,066 (GRCm39)	S897R	probably benign	Het
Tmco3	T	C	8: 13,353,873 (GRCm39)	V395A	probably damaging	Het
Ttc7b	A	G	12: 100,350,432 (GRCm39)	L478P	probably damaging	Het
Ubac2	T	C	14: 122,220,717 (GRCm39)	M184T	probably benign	Het
Wdr95	T	C	5: 149,511,598 (GRCm39)	S433P	probably damaging	Het
Zfp202	T	A	9: 40,122,538 (GRCm39)	H433Q	probably benign	Het
Zfp526	G	T	7: 24,924,737 (GRCm39)	R332L	probably damaging	Het

Other mutations in Pals1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Pals1	APN	12	78,876,573 (GRCm39)	missense	possibly damaging	0.89
IGL00863:Pals1	APN	12	78,856,595 (GRCm39)	missense	probably damaging	1.00
IGL01860:Pals1	APN	12	78,877,681 (GRCm39)	missense	possibly damaging	0.79
R1584:Pals1	UTSW	12	78,876,501 (GRCm39)	missense	probably benign	0.34
R1632:Pals1	UTSW	12	78,843,812 (GRCm39)	nonsense	probably null
R2117:Pals1	UTSW	12	78,856,696 (GRCm39)	missense	possibly damaging	0.81
R2186:Pals1	UTSW	12	78,866,145 (GRCm39)	splice site	probably benign
R2211:Pals1	UTSW	12	78,844,022 (GRCm39)	missense	possibly damaging	0.78
R4044:Pals1	UTSW	12	78,871,613 (GRCm39)	missense	probably benign	0.06
R4224:Pals1	UTSW	12	78,876,492 (GRCm39)	missense	probably damaging	1.00
R4535:Pals1	UTSW	12	78,871,611 (GRCm39)	missense	possibly damaging	0.90
R5157:Pals1	UTSW	12	78,867,589 (GRCm39)	missense	possibly damaging	0.95
R6144:Pals1	UTSW	12	78,871,563 (GRCm39)	missense	possibly damaging	0.75
R6180:Pals1	UTSW	12	78,864,084 (GRCm39)	missense	probably benign	0.11
R7037:Pals1	UTSW	12	78,843,973 (GRCm39)	missense	probably damaging	1.00
R7216:Pals1	UTSW	12	78,844,006 (GRCm39)	missense	probably damaging	0.99
R8937:Pals1	UTSW	12	78,866,115 (GRCm39)	missense	probably benign	0.07
R8983:Pals1	UTSW	12	78,884,298 (GRCm39)	missense	probably damaging	1.00
R9128:Pals1	UTSW	12	78,843,832 (GRCm39)	missense	probably benign
R9396:Pals1	UTSW	12	78,871,521 (GRCm39)	missense	possibly damaging	0.49
R9690:Pals1	UTSW	12	78,866,117 (GRCm39)	missense	probably damaging	1.00
R9703:Pals1	UTSW	12	78,843,850 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAATCTAGCTGCACAACTCAATAC -3'
(R):5'- CAACACTGTTAGTCTGAAGTTGAAC -3'

Sequencing Primer
(F):5'- CTCAATACAGTAAACAGTGGACAG -3'
(R):5'- TGTTAGTCTGAAGTTGAACTATGTTG -3'

Posted On

2020-06-30