Mutagenetix > Incidental Mutations

Incidental Mutation 'R0331:Pag1'

26032

Institutional Source

Beutler Lab

Gene Symbol

Pag1

Ensembl Gene

ENSMUSG00000027508

Gene Name

phosphoprotein associated with glycosphingolipid microdomains 1

Synonyms

F730007C19Rik, Cbp

MMRRC Submission

038540-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9687479-9833679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9701970 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 90 (T90S)

Ref Sequence

ENSEMBL: ENSMUSP00000124529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108384] [ENSMUST00000161949]

Predicted Effect

probably benign
Transcript: ENSMUST00000108384
AA Change: T90S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: T90S

Domain	Start	End	E-Value	Type
Pfam:PAG	1	429	8.7e-209	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159825

Predicted Effect

probably benign
Transcript: ENSMUST00000161949
AA Change: T90S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: T90S

Domain	Start	End	E-Value	Type
Pfam:PAG	2	429	1.4e-208	PFAM

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no apparent defects in embryogenesis, thymic development, or T-cell functions. Mice homozygous for a different knock-out allele show normal T-cell development albeit with an increased thymocyte population. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,229,392	T79S	probably benign	Het
Abtb1	T	C	6: 88,840,702		probably benign	Het
Acot12	G	A	13: 91,760,064		probably null	Het
Adamts4	T	A	1: 171,250,972	S54T	probably benign	Het
Adgrl4	T	C	3: 151,497,940	S96P	probably benign	Het
Aip	G	T	19: 4,118,247	T40K	probably damaging	Het
Anapc4	A	G	5: 52,855,642		probably benign	Het
Asz1	A	G	6: 18,103,619		probably benign	Het
Atf7ip	A	G	6: 136,561,163	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,816,953	Q127*	probably null	Het
Axin1	A	G	17: 26,143,107	R142G	probably damaging	Het
B230359F08Rik	A	G	14: 53,795,748	N38S	probably benign	Het
Bcat1	T	A	6: 145,047,314	E86V	probably benign	Het
Brd4	G	A	17: 32,202,515	P749L	probably benign	Het
C1ra	G	A	6: 124,519,435		probably null	Het
Capza2	A	T	6: 17,665,103	N237I	probably benign	Het
Cd2ap	A	T	17: 42,805,301	V556E	probably benign	Het
Cfap65	G	A	1: 74,929,301	P124L	probably damaging	Het
Cfap65	G	T	1: 74,929,302	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,226	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,362,856		probably null	Het
Cmya5	T	G	13: 93,144,403	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,967,502		probably benign	Het
Crmp1	C	T	5: 37,265,313	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,407,026	T33S	probably benign	Het
Dhdh	T	C	7: 45,488,120	K48E	probably benign	Het
Dlst	T	C	12: 85,118,812	V103A	probably damaging	Het
Dohh	C	T	10: 81,387,812	T233I	probably benign	Het
Dvl2	C	A	11: 70,006,217		probably benign	Het
Eipr1	C	T	12: 28,864,704	Q286*	probably null	Het
Enpp6	C	A	8: 47,082,449	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,711,895	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,973,008	N231K	probably benign	Het
Gm6370	A	T	5: 146,493,766	T254S	probably benign	Het
Hapln4	G	T	8: 70,084,509	Q31H	probably damaging	Het
Hic1	T	A	11: 75,165,490	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,931,785	L101P	probably damaging	Het
Itga10	T	C	3: 96,652,483	Y485H	probably damaging	Het
Itgal	T	A	7: 127,306,681		probably null	Het
Itln1	T	C	1: 171,531,549	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,386,289		probably benign	Het
Lct	T	C	1: 128,298,742		probably benign	Het
Lman2	A	T	13: 55,353,016	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,524,237		probably benign	Het
Myo3b	G	T	2: 70,095,261	G24V	probably damaging	Het
Nacad	T	A	11: 6,599,441	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,084,917	M431K	unknown	Het
Nek9	T	A	12: 85,327,375		probably benign	Het
Neu1	C	A	17: 34,934,170	N255K	possibly damaging	Het
Nf2	T	A	11: 4,794,914	T75S	probably benign	Het
Nipal4	T	A	11: 46,150,213	D385V	probably damaging	Het
Olah	T	A	2: 3,342,474	N245I	probably damaging	Het
Olfr474	G	T	7: 107,954,870	L76F	probably benign	Het
Pald1	A	G	10: 61,340,929		probably null	Het
Parva	A	G	7: 112,544,798	M98V	probably benign	Het
Paxbp1	T	A	16: 91,037,367	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,765,232	I587T	probably damaging	Het
Pclo	T	C	5: 14,680,376		probably benign	Het
Pdgfra	T	A	5: 75,195,052	D1074E	probably damaging	Het
Pef1	A	T	4: 130,127,448	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,586,366	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,482,642	G40D	probably damaging	Het
Psg18	A	G	7: 18,353,308	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,842,191	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559	D51G	probably benign	Het
Rnf139	T	A	15: 58,899,906	D593E	probably benign	Het
Sept7	A	G	9: 25,306,256	N422S	probably benign	Het
Shprh	T	C	10: 11,194,170		probably benign	Het
Slc7a6os	A	G	8: 106,210,567	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,377,924		probably benign	Het
Spc24	G	T	9: 21,757,313	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,560	T148I	probably benign	Het
Tmem150c	A	C	5: 100,086,273		probably null	Het
Ttn	G	T	2: 76,811,020	Y11801*	probably null	Het
Usp37	A	T	1: 74,454,064	L688*	probably null	Het
Usp38	T	C	8: 80,995,840	I351V	probably benign	Het
Vav2	T	A	2: 27,296,175	M223L	probably benign	Het
Wdr36	A	G	18: 32,852,915	I557M	possibly damaging	Het
Wwc2	A	T	8: 47,880,204	M259K	probably benign	Het
Znfx1	G	A	2: 167,046,978	S770L	probably benign	Het

Other mutations in Pag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Pag1	APN	3	9693826	missense	probably damaging	0.97
R0561:Pag1	UTSW	3	9699421	missense	probably damaging	1.00
R1797:Pag1	UTSW	3	9693886	missense	probably benign	0.04
R2082:Pag1	UTSW	3	9699485	missense	probably damaging	0.96
R2315:Pag1	UTSW	3	9699764	missense	probably damaging	1.00
R3772:Pag1	UTSW	3	9699628	missense	probably benign	0.20
R4448:Pag1	UTSW	3	9699466	missense	probably benign	0.19
R5590:Pag1	UTSW	3	9699422	missense	probably damaging	1.00
R6157:Pag1	UTSW	3	9693836	missense	probably benign	0.00
R6481:Pag1	UTSW	3	9699336	missense	possibly damaging	0.85
R6776:Pag1	UTSW	3	9699788	missense	probably benign	0.29
R7450:Pag1	UTSW	3	9699539	missense	probably damaging	1.00
R7574:Pag1	UTSW	3	9693891	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAAGGAATGACAGCACGCACTC -3'
(R):5'- TGTACCCGTAGCCCATCTGTAACC -3'

Sequencing Primer
(F):5'- gtacattccctactggtcatctg -3'
(R):5'- ATCTGTAACCACCTGGTGAGATG -3'

Posted On

2013-04-16