Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Pals1'

488755

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

044291-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78795681-78887488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78871563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 381 (V381A)

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

possibly damaging
Transcript: ENSMUST00000082024
AA Change: V381A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: V381A

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

noncoding transcript
Transcript: ENSMUST00000218726

Predicted Effect

probably benign
Transcript: ENSMUST00000219197

Meta Mutation Damage Score

0.5212

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,186,564 (GRCm39)	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,837,347 (GRCm39)	R246H	probably damaging	Het
Agbl1	A	G	7: 76,069,832 (GRCm39)	T203A	probably benign	Het
Alms1	T	A	6: 85,600,056 (GRCm39)	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,739,639 (GRCm39)		probably benign	Het
Arap3	C	A	18: 38,118,486 (GRCm39)	G814C	probably damaging	Het
Armc9	T	G	1: 86,172,301 (GRCm39)	I5S	probably benign	Het
Catsperg1	T	C	7: 28,910,120 (GRCm39)	T74A	probably damaging	Het
Cdca7l	T	A	12: 117,837,446 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,733,153 (GRCm39)		probably benign	Het
Chpt1	A	G	10: 88,288,955 (GRCm39)		probably benign	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,803,148 (GRCm39)	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,082 (GRCm39)	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,356,887 (GRCm39)		probably null	Het
Creb3l1	T	C	2: 91,822,350 (GRCm39)	H212R	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,310,053 (GRCm39)	D254G	possibly damaging	Het
Dennd1b	A	G	1: 139,008,993 (GRCm39)	H232R	probably damaging	Het
Dhx29	T	C	13: 113,101,105 (GRCm39)	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,529,476 (GRCm39)	I307T	possibly damaging	Het
Ep300	A	G	15: 81,485,435 (GRCm39)	S141G	unknown	Het
Evl	A	C	12: 108,619,290 (GRCm39)	K101T	probably damaging	Het
Exph5	G	A	9: 53,284,328 (GRCm39)	G470R	probably benign	Het
Flg	A	T	3: 93,190,515 (GRCm39)		probably benign	Het
Gm45704	T	A	8: 73,510,920 (GRCm39)			Het
Grm1	T	C	10: 10,955,640 (GRCm39)	M215V	probably benign	Het
Hadha	T	C	5: 30,345,994 (GRCm39)	D210G	probably benign	Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Hrc	A	T	7: 44,986,157 (GRCm39)	H436L	possibly damaging	Het
Hycc1	T	C	5: 24,171,367 (GRCm39)	S352G	possibly damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,131,917 (GRCm39)	R222L	probably benign	Het
Khnyn	T	C	14: 56,125,296 (GRCm39)	V485A	probably damaging	Het
Kifc5b	T	C	17: 27,140,826 (GRCm39)	V100A	probably benign	Het
Lsm10	T	C	4: 125,991,794 (GRCm39)	M50T	probably damaging	Het
Map3k6	T	G	4: 132,972,986 (GRCm39)	W382G	probably damaging	Het
Mink1	T	A	11: 70,501,478 (GRCm39)	F922I	possibly damaging	Het
Mrap2	T	C	9: 87,057,871 (GRCm39)	V53A	probably damaging	Het
Mrps7	C	A	11: 115,495,000 (GRCm39)	A5E	probably benign	Het
Muc4	A	G	16: 32,587,298 (GRCm39)	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,689,585 (GRCm39)	S249P	probably damaging	Het
Neil3	T	C	8: 54,052,447 (GRCm39)	T384A	probably benign	Het
Noc3l	A	T	19: 38,787,399 (GRCm39)	I504K	probably damaging	Het
Nudt13	A	G	14: 20,357,839 (GRCm39)	N107S	probably benign	Het
Or11h4b	C	A	14: 50,918,392 (GRCm39)	R233L	probably benign	Het
Or2n1	T	A	17: 38,486,116 (GRCm39)	L47H	probably damaging	Het
Or5c1	T	A	2: 37,222,125 (GRCm39)	M122K	probably damaging	Het
Otub1	G	T	19: 7,176,518 (GRCm39)	Y205*	probably null	Het
Pierce2	C	A	9: 72,887,270 (GRCm39)	C79F	probably damaging	Het
Plpp7	T	A	2: 31,986,100 (GRCm39)	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011 (GRCm38)	Y188D	probably damaging	Het
Rigi	T	C	4: 40,229,551 (GRCm39)	I78V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap1	A	T	2: 119,603,128 (GRCm39)	C602*	probably null	Het
Sbds	T	C	5: 130,275,185 (GRCm39)	K248E	probably benign	Het
Serpina10	A	T	12: 103,595,092 (GRCm39)	N42K	probably benign	Het
Slc7a8	A	G	14: 54,966,797 (GRCm39)	L368P	probably damaging	Het
Srrm1	T	C	4: 135,065,184 (GRCm39)		probably benign	Het
Sun2	C	T	15: 79,614,533 (GRCm39)	V288I	probably benign	Het
Tas2r107	C	A	6: 131,636,966 (GRCm39)	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,037,155 (GRCm39)	I268T	probably benign	Het
Tjp2	A	G	19: 24,097,437 (GRCm39)	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740 (GRCm38)	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,697,005 (GRCm39)		probably null	Het
Trdv2-2	A	T	14: 54,198,761 (GRCm39)	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,719,886 (GRCm39)	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,718,914 (GRCm39)	T582A	probably benign	Het
Zfp788	T	C	7: 41,299,193 (GRCm39)	S558P	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
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
R8084:Pals1	UTSW	12	78,867,625 (GRCm39)	missense	probably benign	0.18
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'- CCCTAACATGCTGTTGCTTAAC -3'
(R):5'- TTTGATTCCAGGCCTCTGCAG -3'

Sequencing Primer
(F):5'- CATGCTGTTGCTTAACTAAATGTCC -3'
(R):5'- GATTCCAGGCCTCTGCAGTTAAG -3'

Posted On

2017-10-10