Mutagenetix > Incidental Mutation

Incidental Mutation 'R2082:Pag1'

230058

Institutional Source

Beutler Lab

Gene Symbol

Pag1

Ensembl Gene

ENSMUSG00000027508

Gene Name

phosphoprotein associated with glycosphingolipid microdomains 1

Synonyms

F730007C19Rik, Cbp

MMRRC Submission

040087-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9752539-9898739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9764545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 203 (S203T)

Ref Sequence

ENSEMBL: ENSMUSP00000124529 (fasta)

Gene Model

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

AlphaFold

Q3U1F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000108384
AA Change: S203T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: S203T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159825

Predicted Effect

probably damaging
Transcript: ENSMUST00000161949
AA Change: S203T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: S203T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,686,391 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,769 (GRCm39)	I228V	probably benign	Het
Aco2	T	C	15: 81,797,896 (GRCm39)	W657R	possibly damaging	Het
Acsm2	T	A	7: 119,179,857 (GRCm39)	H333Q	probably benign	Het
Adamts18	C	T	8: 114,501,965 (GRCm39)	V299I	probably damaging	Het
Adat2	G	A	10: 13,435,907 (GRCm39)	C84Y	probably damaging	Het
Arhgef11	C	T	3: 87,633,303 (GRCm39)	T690I	possibly damaging	Het
Cachd1	A	G	4: 100,860,155 (GRCm39)	D1242G	probably damaging	Het
Casp14	A	G	10: 78,550,867 (GRCm39)	M106T	probably benign	Het
Ccdc69	T	A	11: 54,943,215 (GRCm39)	I130F	probably damaging	Het
Cdk9	A	G	2: 32,599,513 (GRCm39)	L189P	probably damaging	Het
Cfhr1	C	T	1: 139,478,624 (GRCm39)	V249I	possibly damaging	Het
Chst1	T	C	2: 92,444,335 (GRCm39)	V269A	possibly damaging	Het
Col18a1	G	T	10: 76,895,127 (GRCm39)	P1178Q	probably damaging	Het
Col6a1	A	G	10: 76,545,430 (GRCm39)	L1014P	probably damaging	Het
Crisp3	T	C	17: 40,536,751 (GRCm39)	Y188C	probably damaging	Het
Dse	G	A	10: 34,031,936 (GRCm39)	R363C	probably damaging	Het
Exoc5	T	C	14: 49,253,044 (GRCm39)	I525V	probably benign	Het
Fech	A	T	18: 64,591,260 (GRCm39)	I388N	probably damaging	Het
Fmnl1	T	C	11: 103,082,851 (GRCm39)	L363P	probably damaging	Het
Gm10842	T	A	11: 105,037,909 (GRCm39)	L64Q	unknown	Het
Gm8225	C	A	17: 26,762,670 (GRCm39)	P287Q	possibly damaging	Het
Hsp90aa1	A	T	12: 110,659,261 (GRCm39)	L512H	probably damaging	Het
Ifi30	T	C	8: 71,216,373 (GRCm39)		probably benign	Het
Iqsec1	A	T	6: 90,671,556 (GRCm39)	D115E	probably damaging	Het
Kcnu1	T	A	8: 26,411,577 (GRCm39)	L174H	probably damaging	Het
Krt10	A	G	11: 99,279,701 (GRCm39)	V153A	probably damaging	Het
Krt18	G	A	15: 101,939,455 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,699,129 (GRCm39)	T469A	probably benign	Het
Mtss2	T	C	8: 111,452,889 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,786,079 (GRCm39)	F1253L	probably damaging	Het
N4bp2	A	T	5: 65,964,908 (GRCm39)	T986S	probably damaging	Het
Naip6	C	A	13: 100,440,852 (GRCm39)		probably null	Het
Nphp4	G	A	4: 152,643,821 (GRCm39)	V1117M	probably benign	Het
Oca2	C	A	7: 55,946,885 (GRCm39)	Q305K	probably benign	Het
Or56b34	C	T	7: 104,937,710 (GRCm39)	Q137*	probably null	Het
Or5k3	T	A	16: 58,969,248 (GRCm39)	F12I	probably damaging	Het
Or7g27	G	A	9: 19,250,574 (GRCm39)	V273I	probably benign	Het
P2rx7	A	T	5: 122,782,158 (GRCm39)	N8Y	possibly damaging	Het
Pfn4	T	A	12: 4,825,439 (GRCm39)		probably null	Het
Pip4k2c	T	C	10: 127,034,958 (GRCm39)	D414G	probably damaging	Het
Pkp1	T	G	1: 135,812,714 (GRCm39)	Q329P	possibly damaging	Het
Polrmt	A	T	10: 79,579,346 (GRCm39)	I135N	probably benign	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Ppp3cb	T	C	14: 20,558,746 (GRCm39)	T439A	possibly damaging	Het
Prkdc	A	G	16: 15,533,827 (GRCm39)	Y1555C	probably damaging	Het
Ptprh	T	C	7: 4,553,774 (GRCm39)	D859G	probably damaging	Het
Sema5a	T	A	15: 32,619,002 (GRCm39)	M510K	probably benign	Het
Slc22a16	A	G	10: 40,461,335 (GRCm39)	E379G	probably benign	Het
Slc30a5	C	A	13: 100,943,041 (GRCm39)		probably null	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tbc1d9	A	T	8: 83,997,616 (GRCm39)	S1058C	probably damaging	Het
Tet2	A	G	3: 133,191,488 (GRCm39)	L982P	possibly damaging	Het
Tmem101	G	T	11: 102,044,203 (GRCm39)	T228K	probably benign	Het
Tshz2	G	T	2: 169,728,135 (GRCm39)	K441N	probably damaging	Het
Upf1	A	T	8: 70,794,222 (GRCm39)	I228N	probably damaging	Het
Usp32	A	T	11: 84,921,338 (GRCm39)	I692N	probably damaging	Het
Vmn2r117	A	G	17: 23,679,230 (GRCm39)	S665P	possibly damaging	Het
Vps13b	T	C	15: 35,910,892 (GRCm39)	V3552A	possibly damaging	Het
Vps35	A	T	8: 85,990,094 (GRCm39)	M638K	possibly damaging	Het
Vps41	T	G	13: 19,036,521 (GRCm39)	I645S	probably benign	Het
Zfp703	T	C	8: 27,469,016 (GRCm39)	S227P	probably benign	Het

Other mutations in Pag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Pag1	APN	3	9,758,886 (GRCm39)	missense	probably damaging	0.97
R0331:Pag1	UTSW	3	9,767,030 (GRCm39)	missense	probably benign	0.13
R0561:Pag1	UTSW	3	9,764,481 (GRCm39)	missense	probably damaging	1.00
R1797:Pag1	UTSW	3	9,758,946 (GRCm39)	missense	probably benign	0.04
R2315:Pag1	UTSW	3	9,764,824 (GRCm39)	missense	probably damaging	1.00
R3772:Pag1	UTSW	3	9,764,688 (GRCm39)	missense	probably benign	0.20
R4448:Pag1	UTSW	3	9,764,526 (GRCm39)	missense	probably benign	0.19
R5590:Pag1	UTSW	3	9,764,482 (GRCm39)	missense	probably damaging	1.00
R6157:Pag1	UTSW	3	9,758,896 (GRCm39)	missense	probably benign	0.00
R6481:Pag1	UTSW	3	9,764,396 (GRCm39)	missense	possibly damaging	0.85
R6776:Pag1	UTSW	3	9,764,848 (GRCm39)	missense	probably benign	0.29
R7450:Pag1	UTSW	3	9,764,599 (GRCm39)	missense	probably damaging	1.00
R7574:Pag1	UTSW	3	9,758,951 (GRCm39)	missense	probably damaging	1.00
R8046:Pag1	UTSW	3	9,764,482 (GRCm39)	missense	probably damaging	1.00
R8396:Pag1	UTSW	3	9,759,112 (GRCm39)	missense	probably benign	0.04
R8855:Pag1	UTSW	3	9,764,529 (GRCm39)	missense	probably benign	0.23
R9092:Pag1	UTSW	3	9,764,848 (GRCm39)	missense	probably benign	0.29
R9584:Pag1	UTSW	3	9,761,214 (GRCm39)	missense	probably damaging	1.00
R9657:Pag1	UTSW	3	9,769,791 (GRCm39)	missense	probably damaging	0.98
Z1177:Pag1	UTSW	3	9,761,198 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCCTCAGCATGACCCAAG -3'
(R):5'- GTGGACGAGATTCTCACAGC -3'

Sequencing Primer
(F):5'- AGGTTGGCATTCTCATCCAGAAG -3'
(R):5'- ACGAGATTCTCACAGCCAGGG -3'

Posted On

2014-09-18