Mutagenetix > Incidental Mutation

Incidental Mutation 'R8937:Pals1'

680747

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

068710-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R8937 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78795681-78887488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78866115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 313 (D313E)

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: D313E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: D313E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (71/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	C	A	3: 116,762,120 (GRCm39)		probably benign	Het
Actn3	C	T	19: 4,921,798 (GRCm39)		probably null	Het
Akap13	T	A	7: 75,184,601 (GRCm39)		probably null	Het
Akap9	A	T	5: 4,094,048 (GRCm39)	Q2190L	possibly damaging	Het
Ankrd6	A	T	4: 32,823,452 (GRCm39)	V190D	possibly damaging	Het
Atrn	T	A	2: 130,841,157 (GRCm39)	D1186E	probably benign	Het
Bank1	A	T	3: 135,989,934 (GRCm39)	V52E	probably damaging	Het
Blmh	A	G	11: 76,857,883 (GRCm39)	N342D	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ces2f	A	G	8: 105,677,669 (GRCm39)	T225A	probably damaging	Het
Clic6	G	T	16: 92,296,245 (GRCm39)	D302Y	probably damaging	Het
Clmn	T	A	12: 104,763,341 (GRCm39)	N95I	probably damaging	Het
Cmya5	A	T	13: 93,232,840 (GRCm39)	F749L	probably benign	Het
Cramp1	A	G	17: 25,202,956 (GRCm39)	F358L	probably damaging	Het
Dhx38	T	C	8: 110,283,098 (GRCm39)	D573G	probably damaging	Het
Dync1h1	T	C	12: 110,584,471 (GRCm39)	Y625H	probably damaging	Het
Enpep	A	G	3: 129,115,007 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,483,350 (GRCm39)	L3146P	probably damaging	Het
Gal3st2b	G	A	1: 93,868,570 (GRCm39)	S265N	probably benign	Het
Glis3	G	A	19: 28,643,266 (GRCm39)	A92V	possibly damaging	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Hmcn2	A	T	2: 31,204,427 (GRCm39)	M1L	probably benign	Het
Kcnj15	G	A	16: 95,097,548 (GRCm39)		probably benign	Het
Krt27	A	G	11: 99,239,551 (GRCm39)	S310P	probably damaging	Het
Lama2	A	T	10: 26,862,816 (GRCm39)	D2982E	probably damaging	Het
Lrfn3	A	G	7: 30,059,451 (GRCm39)	V258A	probably benign	Het
Lrit3	A	T	3: 129,594,193 (GRCm39)	M128K	probably damaging	Het
Ltbp3	A	G	19: 5,797,512 (GRCm39)	T417A	probably benign	Het
Mettl25	T	C	10: 105,601,122 (GRCm39)	T554A	probably benign	Het
Micall1	A	G	15: 79,011,198 (GRCm39)	S523G	probably damaging	Het
Mmp21	G	A	7: 133,280,700 (GRCm39)	A90V	probably benign	Het
Mon2	T	C	10: 122,895,110 (GRCm39)	N53S	probably benign	Het
Muc15	T	C	2: 110,562,252 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,773,127 (GRCm39)	M431L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5c3	T	C	6: 56,861,701 (GRCm39)	D195G	probably damaging	Het
Or3a1b	T	A	11: 74,012,874 (GRCm39)	M253K	probably benign	Het
Or52h1	A	G	7: 103,828,949 (GRCm39)	L222P	possibly damaging	Het
Pgrmc2	A	G	3: 41,037,125 (GRCm39)	L102P	probably damaging	Het
Plekha1	T	G	7: 130,502,241 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,562 (GRCm39)	Y409C	probably damaging	Het
Prss59	A	T	6: 40,902,999 (GRCm39)	Y124*	probably null	Het
Ralgapa1	T	G	12: 55,749,345 (GRCm39)	I1233L	probably damaging	Het
Rb1cc1	T	A	1: 6,333,441 (GRCm39)	D68E	probably benign	Het
Rere	C	A	4: 150,699,331 (GRCm39)		probably benign	Het
Rnf213	A	T	11: 119,321,100 (GRCm39)	H1185L	possibly damaging	Het
Robo2	G	T	16: 73,770,150 (GRCm39)	P529T	probably damaging	Het
Robo2	G	A	16: 73,770,149 (GRCm39)	P529L	probably damaging	Het
Shprh	A	G	10: 11,061,181 (GRCm39)	T1165A	possibly damaging	Het
Slc22a26	C	T	19: 7,768,390 (GRCm39)		probably benign	Het
Slc43a1	T	C	2: 84,690,450 (GRCm39)	L456P	probably damaging	Het
Slc5a8	T	C	10: 88,740,885 (GRCm39)	Y267H	probably damaging	Het
Snrnp200	T	C	2: 127,068,902 (GRCm39)	I927T	probably benign	Het
Sorbs1	T	C	19: 40,362,006 (GRCm39)	D156G	probably benign	Het
Sox5	A	T	6: 143,853,169 (GRCm39)	S370T	probably benign	Het
Spen	T	C	4: 141,201,374 (GRCm39)	T2418A	probably damaging	Het
St8sia6	A	T	2: 13,701,705 (GRCm39)	L104H	probably damaging	Het
Stox1	T	A	10: 62,500,430 (GRCm39)	N710I	probably damaging	Het
Syncrip	T	C	9: 88,344,900 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,051 (GRCm39)	P417S	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tfcp2l1	G	A	1: 118,596,447 (GRCm39)	G394E	possibly damaging	Het
Tial1	A	G	7: 128,056,715 (GRCm39)	I13T	probably damaging	Het
Tmem108	T	C	9: 103,361,981 (GRCm39)	D535G	probably benign	Het
Tpp1	T	C	7: 105,396,626 (GRCm39)	M464V	probably benign	Het
Trrap	C	A	5: 144,757,063 (GRCm39)	N2108K	probably damaging	Het
Tspan3	T	C	9: 56,053,883 (GRCm39)	D156G	probably benign	Het
Ttn	C	T	2: 76,592,607 (GRCm39)	V20842I	probably benign	Het
Ubr4	T	A	4: 139,190,886 (GRCm39)	W4078R	probably damaging	Het
Uts2r	G	A	11: 121,051,795 (GRCm39)	V220M	possibly damaging	Het
Vmn2r19	G	A	6: 123,293,283 (GRCm39)		probably null	Het
Vmn2r3	A	T	3: 64,166,673 (GRCm39)	F819L	probably damaging	Het
Wdtc1	T	C	4: 133,031,470 (GRCm39)	Y250C	probably damaging	Het
Zan	T	C	5: 137,393,888 (GRCm39)	H4521R	unknown	Het
Zfp219	A	T	14: 52,244,224 (GRCm39)	C652S	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
R8084:Pals1	UTSW	12	78,867,625 (GRCm39)	missense	probably benign	0.18
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'- CAGTTGTTACTTTAGCAATGTGAGG -3'
(R):5'- AATTCACCAGGAATGTACAAGGTG -3'

Sequencing Primer
(F):5'- TGTTACTTTAGCAATGTGAGGAAATC -3'
(R):5'- GGCTAAAAACTACCTTATACTC -3'

Posted On

2021-08-31