Mutagenetix > Incidental Mutation

Incidental Mutation 'R9128:Pals1'

693422

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

068927-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R9128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78795681-78887488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78843832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 12 (E12G)

Ref Sequence

ENSEMBL: ENSMUSP00000080683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197] [ENSMUST00000219667]

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: E12G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: E12G

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
AA Change: E12G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000219667

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,352 (GRCm39)	V542A	possibly damaging	Het
Abhd8	G	T	8: 71,914,389 (GRCm39)	R80S	probably benign	Het
Actc1	T	C	2: 113,880,946 (GRCm39)	Y93C	possibly damaging	Het
Actn4	G	T	7: 28,593,929 (GRCm39)	D859E	possibly damaging	Het
Adcy2	C	T	13: 68,773,927 (GRCm39)	G1039R	probably damaging	Het
Als2	A	G	1: 59,219,709 (GRCm39)	M1202T	probably benign	Het
Aste1	T	A	9: 105,273,908 (GRCm39)	Y49*	probably null	Het
Atp8b4	T	C	2: 126,234,750 (GRCm39)	D422G	probably benign	Het
Bag6	T	A	17: 35,363,688 (GRCm39)	S791T	probably damaging	Het
Bivm	T	A	1: 44,167,949 (GRCm39)	W222R	probably null	Het
Bod1l	A	C	5: 41,946,266 (GRCm39)	V3003G	probably benign	Het
Bsn	T	C	9: 107,993,349 (GRCm39)	D801G	probably benign	Het
Ccdc14	G	A	16: 34,527,159 (GRCm39)	D403N	probably damaging	Het
Cenpj	T	A	14: 56,780,319 (GRCm39)	E964V	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clca3a1	G	A	3: 144,463,795 (GRCm39)	R161W	probably damaging	Het
Dcxr	A	T	11: 120,617,372 (GRCm39)	V57E		Het
Dnah17	T	G	11: 117,937,004 (GRCm39)	N3400T	possibly damaging	Het
Dnaja3	C	T	16: 4,520,164 (GRCm39)	T444I	possibly damaging	Het
Dop1a	T	C	9: 86,395,208 (GRCm39)	S772P	probably benign	Het
Ednrb	T	C	14: 104,080,528 (GRCm39)	N129D	probably damaging	Het
Ep300	T	A	15: 81,533,946 (GRCm39)	M2001K	unknown	Het
Fam3b	A	G	16: 97,302,200 (GRCm39)	I8T	probably benign	Het
Fam98c	A	T	7: 28,854,115 (GRCm39)	S85T		Het
Fat1	G	A	8: 45,462,878 (GRCm39)	V1232I	probably benign	Het
Fzd3	T	A	14: 65,449,626 (GRCm39)	Y484F	probably damaging	Het
H3f3a	T	C	1: 180,630,660 (GRCm39)	I131M	possibly damaging	Het
Ifi206	A	T	1: 173,299,022 (GRCm39)	D861E	unknown	Het
Ihh	T	C	1: 74,985,498 (GRCm39)	Y329C	probably damaging	Het
Jak2	A	G	19: 29,278,462 (GRCm39)	N909D	probably damaging	Het
Krtap12-1	C	A	10: 77,556,623 (GRCm39)	C55*	probably null	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mreg	T	C	1: 72,231,216 (GRCm39)	T81A	probably benign	Het
Muc16	T	C	9: 18,558,878 (GRCm39)	T2472A	unknown	Het
Nanos3	A	T	8: 84,903,080 (GRCm39)	D27E	probably benign	Het
Nox3	T	G	17: 3,720,136 (GRCm39)	S350R	probably damaging	Het
Or4m1	A	G	14: 50,558,214 (GRCm39)	V26A	probably benign	Het
Or8k18	T	A	2: 86,086,022 (GRCm39)	N5I	probably damaging	Het
Pafah2	C	T	4: 134,147,281 (GRCm39)	T310M	probably damaging	Het
Pianp	A	G	6: 124,977,658 (GRCm39)	I185V	probably benign	Het
Pja2	T	C	17: 64,616,470 (GRCm39)	T142A	probably benign	Het
Poln	G	A	5: 34,171,658 (GRCm39)	P747L	probably damaging	Het
Pramel25	T	A	4: 143,520,178 (GRCm39)	S141T	probably benign	Het
Rdx	T	A	9: 51,976,179 (GRCm39)	L39*	probably null	Het
Rnf146	A	G	10: 29,223,539 (GRCm39)	W116R	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,087,810 (GRCm39)	T224A	probably benign	Het
Serpinb9	T	A	13: 33,190,686 (GRCm39)	I54K	possibly damaging	Het
Slc25a13	A	T	6: 6,109,987 (GRCm39)	L324Q	probably null	Het
Slc9c1	T	C	16: 45,400,490 (GRCm39)	L700P	probably benign	Het
Snta1	T	C	2: 154,222,856 (GRCm39)	K289R	probably benign	Het
Sppl2a	A	G	2: 126,765,393 (GRCm39)	F243S	probably damaging	Het
Syne1	T	C	10: 5,058,556 (GRCm39)	E7319G	probably benign	Het
Taf5l	G	A	8: 124,730,014 (GRCm39)	P225L	probably benign	Het
Tet2	A	T	3: 133,175,374 (GRCm39)	N1324K	possibly damaging	Het
Usp5	A	T	6: 124,800,414 (GRCm39)		probably null	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vps16	A	G	2: 130,266,319 (GRCm39)	D2G	possibly damaging	Het
Vwf	T	C	6: 125,619,693 (GRCm39)	L1457P		Het
Xpo1	A	G	11: 23,235,058 (GRCm39)	T576A	probably damaging	Het
Zdhhc6	A	T	19: 55,301,680 (GRCm39)	Y100*	probably null	Het
Zfp534	T	A	4: 147,760,082 (GRCm39)	R196*	probably null	Het
Zfp710	C	T	7: 79,731,122 (GRCm39)	R100W	probably damaging	Het
Zfp750	T	C	11: 121,404,674 (GRCm39)	K67R	probably benign	Het
Zmynd10	T	C	9: 107,426,326 (GRCm39)	S158P		Het
Zmynd8	A	T	2: 165,700,058 (GRCm39)	M1K	probably null	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
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
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'- CCCTCTTAGATTTCCCTCATGGA -3'
(R):5'- CAGTCTTTGGAGGAATTTGAGCT -3'

Sequencing Primer
(F):5'- CAGAATCAAGAGAATTGGCTT -3'
(R):5'- GCTAGTTTCTTAAGTCTCATGGAAG -3'

Posted On

2022-01-20