Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01860:Pals1'

178291

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pals1

Ensembl Gene

ENSMUSG00000021112

Gene Name

protein associated with LIN7 1, MAGUK family member

Synonyms

3830420B02Rik, Pals1, Mpp5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

IGL01860

Quality Score

Status

Chromosome

Chromosomal Location

78795681-78887488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78877681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 531 (V531A)

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: V531A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: V531A

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

noncoding transcript
Transcript: ENSMUST00000219180

Predicted Effect

probably benign
Transcript: ENSMUST00000219197

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,914 (GRCm39)	N248Y	possibly damaging	Het
Adamts13	G	A	2: 26,868,023 (GRCm39)	V128M	probably damaging	Het
Agl	A	T	3: 116,566,175 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,224,621 (GRCm39)	M1405K	probably damaging	Het
Atp6v1a	G	T	16: 43,920,319 (GRCm39)	L426M	probably damaging	Het
Calhm6	A	G	10: 34,002,561 (GRCm39)	V174A	probably damaging	Het
Cdc123	A	G	2: 5,808,752 (GRCm39)		probably benign	Het
Cept1	A	G	3: 106,438,444 (GRCm39)		probably benign	Het
Cipc	T	A	12: 87,007,047 (GRCm39)	D60E	probably damaging	Het
Efcab3	T	C	11: 104,581,747 (GRCm39)	S30P	probably benign	Het
Exosc3	A	G	4: 45,319,659 (GRCm39)	I121T	probably benign	Het
Fbln5	A	G	12: 101,776,128 (GRCm39)	Y89H	probably damaging	Het
Fhod3	T	C	18: 25,030,738 (GRCm39)	F128L	probably damaging	Het
Fhod3	T	A	18: 25,037,005 (GRCm39)	I154N	probably damaging	Het
Fpgt	T	C	3: 154,792,483 (GRCm39)	T515A	probably benign	Het
Gas2l2	G	A	11: 83,312,906 (GRCm39)	T802I	probably benign	Het
Gm10710	T	A	3: 83,035,156 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,861,417 (GRCm39)	M1051T	probably benign	Het
Heatr5b	A	G	17: 79,115,909 (GRCm39)	V849A	probably damaging	Het
Helb	T	C	10: 119,938,738 (GRCm39)	I579V	probably damaging	Het
Hspa1l	A	G	17: 35,197,787 (GRCm39)	I609V	probably benign	Het
Itgam	C	A	7: 127,670,115 (GRCm39)	Q136K	probably benign	Het
Kcnc1	T	C	7: 46,077,554 (GRCm39)	L452P	probably damaging	Het
Ltbp4	T	A	7: 27,019,071 (GRCm39)	T1083S	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Nalf1	A	T	8: 9,257,831 (GRCm39)	V439E	probably damaging	Het
P2rx5	T	A	11: 73,056,385 (GRCm39)	V103E	probably damaging	Het
Pappa	A	G	4: 65,123,329 (GRCm39)	D888G	possibly damaging	Het
Pcdhb21	G	T	18: 37,647,958 (GRCm39)	M362I	probably benign	Het
Pde1a	A	G	2: 79,705,628 (GRCm39)	S333P	probably damaging	Het
Ppm1j	A	G	3: 104,691,408 (GRCm39)	T299A	probably damaging	Het
Pramel46	G	A	5: 95,418,510 (GRCm39)	T162I	probably benign	Het
Ptdss2	A	G	7: 140,732,749 (GRCm39)	E168G	probably damaging	Het
Rspry1	A	G	8: 95,376,444 (GRCm39)	N322S	probably benign	Het
Slc7a9	T	A	7: 35,156,485 (GRCm39)	V309E	probably damaging	Het
Slco6c1	A	G	1: 97,003,548 (GRCm39)		probably benign	Het
Tas2r120	T	A	6: 132,634,227 (GRCm39)	M103K	probably damaging	Het
Tbxas1	T	A	6: 38,925,561 (GRCm39)	F59I	probably damaging	Het
Tfpi	A	G	2: 84,274,378 (GRCm39)	S203P	probably benign	Het
Tram2	T	C	1: 21,074,083 (GRCm39)	N285S	possibly damaging	Het
Trio	T	A	15: 27,846,896 (GRCm39)	D980V	probably damaging	Het
Trpv5	T	A	6: 41,637,229 (GRCm39)	H419L	probably damaging	Het
Usp28	C	T	9: 48,943,543 (GRCm39)	R361*	probably null	Het
Vmn1r6	T	A	6: 56,979,674 (GRCm39)	L112*	probably null	Het
Vmn2r12	A	T	5: 109,240,025 (GRCm39)	N179K	probably benign	Het
Vmn2r82	G	T	10: 79,214,691 (GRCm39)	A225S	probably benign	Het
Zcchc4	A	G	5: 52,965,698 (GRCm39)	Y334C	probably damaging	Het
Zfp609	T	C	9: 65,610,116 (GRCm39)	E949G	possibly 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
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
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

Posted On

2014-05-07