Mutagenetix > Incidental Mutation

Incidental Mutation 'R9092:Pag1'

691054

Institutional Source

Beutler Lab

Gene Symbol

Pag1

Ensembl Gene

ENSMUSG00000027508

Gene Name

phosphoprotein associated with glycosphingolipid microdomains 1

Synonyms

F730007C19Rik, Cbp

MMRRC Submission

068908-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9752539-9898739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9764848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 102 (T102A)

Ref Sequence

ENSEMBL: ENSMUSP00000124529 (fasta)

Gene Model

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

AlphaFold

Q3U1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000108384
AA Change: T102A

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: T102A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161949
AA Change: T102A

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: T102A

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

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

93% (56/60)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chl1	T	C	6: 103,645,815 (GRCm39)		probably benign	Het
Crtc3	T	C	7: 80,239,628 (GRCm39)	M575V	probably benign	Het
Cux1	T	A	5: 136,514,671 (GRCm39)	N22I	probably damaging	Het
Dcun1d2	G	A	8: 13,307,935 (GRCm39)	R248W	probably damaging	Het
Dlc1	G	T	8: 37,199,860 (GRCm39)	H7Q	probably benign	Het
Drd2	A	G	9: 49,307,004 (GRCm39)	D30G	probably benign	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
E2f7	T	C	10: 110,616,874 (GRCm39)	S705P	probably benign	Het
Ephb3	G	A	16: 21,041,214 (GRCm39)	S977N	probably benign	Het
F13a1	T	G	13: 37,089,993 (GRCm39)	D448A	probably benign	Het
Fam216b	T	C	14: 78,322,537 (GRCm39)	T56A	possibly damaging	Het
Fcho2	T	C	13: 98,886,391 (GRCm39)	T408A	probably benign	Het
Flvcr1	A	T	1: 190,740,364 (GRCm39)	V552E		Het
Gab3	CTT	CTTGTT	X: 74,043,612 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)		probably benign	Het
Galnt15	A	G	14: 31,780,196 (GRCm39)	K622E	probably benign	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Gjb3	A	AGATGCGCCCG	4: 127,220,471 (GRCm39)		probably null	Het
Gm5414	T	G	15: 101,536,345 (GRCm39)	R93S	probably benign	Het
Gtf2i	A	G	5: 134,318,241 (GRCm39)	*87Q	probably null	Het
Il7r	T	A	15: 9,510,270 (GRCm39)	H261L	probably benign	Het
Itsn1	T	A	16: 91,609,002 (GRCm39)	M250K	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Liat1	A	G	11: 75,893,887 (GRCm39)	D88G	possibly damaging	Het
Lrrc47	C	A	4: 154,096,421 (GRCm39)	T72K	possibly damaging	Het
Map2k4	C	A	11: 65,581,599 (GRCm39)	R371L	probably benign	Het
Mmrn2	T	C	14: 34,118,587 (GRCm39)	F158L	probably benign	Het
Mtus1	A	T	8: 41,455,475 (GRCm39)	L242Q	probably damaging	Het
Myo5a	T	C	9: 75,054,414 (GRCm39)		probably null	Het
Noc3l	T	A	19: 38,798,487 (GRCm39)	K305I	probably damaging	Het
Or4p8	T	C	2: 88,727,321 (GRCm39)	T207A	probably damaging	Het
Pam	A	G	1: 97,791,976 (GRCm39)	S482P	probably benign	Het
Pax1	T	G	2: 147,204,287 (GRCm39)	W23G	unknown	Het
Pcdhgb1	T	A	18: 37,813,989 (GRCm39)	V160D	possibly damaging	Het
Pdzph1	T	C	17: 59,280,125 (GRCm39)	D719G	probably damaging	Het
Phlda1	T	C	10: 111,342,474 (GRCm39)	L70S	possibly damaging	Het
Pikfyve	G	A	1: 65,283,559 (GRCm39)	R732K	probably damaging	Het
Pkd1	G	T	17: 24,788,347 (GRCm39)	V702F	possibly damaging	Het
Pkhd1	A	G	1: 20,632,586 (GRCm39)	Y610H	probably benign	Het
Pofut1	T	G	2: 153,101,508 (GRCm39)	H87Q	probably benign	Het
Runx2	C	A	17: 45,046,443 (GRCm39)	D109Y	probably damaging	Het
Serpina1b	T	A	12: 103,696,540 (GRCm39)	I290F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sh3tc1	T	C	5: 35,874,321 (GRCm39)	N198S	probably benign	Het
Slc27a6	C	A	18: 58,742,330 (GRCm39)	R515S	probably benign	Het
Sorbs3	C	T	14: 70,445,004 (GRCm39)	V25I	probably benign	Het
Speg	A	G	1: 75,399,378 (GRCm39)	E2275G	probably benign	Het
Tmem161b	C	T	13: 84,440,503 (GRCm39)	T307I	possibly damaging	Het
Tmem30a	T	C	9: 79,678,581 (GRCm39)	D361G	probably damaging	Het
Tmprss11c	T	C	5: 86,385,495 (GRCm39)	T326A	probably benign	Het
Tpbg	T	C	9: 85,726,916 (GRCm39)	V295A	possibly damaging	Het
Ulk4	A	T	9: 120,903,003 (GRCm39)	I1158N		Het
Utp20	C	A	10: 88,604,679 (GRCm39)	A1739S	probably benign	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn1r66	T	A	7: 10,008,110 (GRCm39)	I308F	possibly damaging	Het
Vmn2r101	A	T	17: 19,809,807 (GRCm39)	T198S	probably benign	Het
Vps16	T	C	2: 130,281,593 (GRCm39)	I318T	probably damaging	Het
Wdr11	T	A	7: 129,226,451 (GRCm39)	W750R	probably damaging	Het
Zfp608	A	G	18: 55,031,648 (GRCm39)	I764T	probably benign	Het
Zfp708	C	A	13: 67,218,564 (GRCm39)	D420Y	probably damaging	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
R2082:Pag1	UTSW	3	9,764,545 (GRCm39)	missense	probably damaging	0.96
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
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'- GACAGTCCTCCACCATGTTC -3'
(R):5'- ACTGGGAATGCTACCGTGAAC -3'

Sequencing Primer
(F):5'- TGTCCTTGAGCACCTCGTAGG -3'
(R):5'- GAACCGGTTCCTTTCAATGTAATGG -3'

Posted On

2021-12-30