Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Pag1'

675221

Institutional Source

Beutler Lab

Gene Symbol

Pag1

Ensembl Gene

ENSMUSG00000027508

Gene Name

phosphoprotein associated with glycosphingolipid microdomains 1

Synonyms

F730007C19Rik, Cbp

MMRRC Submission

068736-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9752539-9898739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9764529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 208 (K208R)

Ref Sequence

ENSEMBL: ENSMUSP00000104021 (fasta)

Gene Model

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

AlphaFold

Q3U1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000108384
AA Change: K208R

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: K208R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161949
AA Change: K208R

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: K208R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Ace	T	A	11: 105,861,424 (GRCm39)	L191*	probably null	Het
Ahctf1	G	A	1: 179,614,341 (GRCm39)	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,466,869 (GRCm39)		probably null	Het
Angptl6	T	A	9: 20,786,940 (GRCm39)	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
B4galnt4	G	A	7: 140,648,488 (GRCm39)	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,218,887 (GRCm39)	D623E	probably damaging	Het
Cenpf	C	A	1: 189,385,430 (GRCm39)	K2283N	probably benign	Het
Clec16a	A	T	16: 10,462,731 (GRCm39)	D683V	probably damaging	Het
Clvs2	T	C	10: 33,404,400 (GRCm39)	D272G	probably benign	Het
Cnksr1	A	G	4: 133,959,494 (GRCm39)	V380A	probably damaging	Het
Col20a1	C	A	2: 180,655,684 (GRCm39)	P42T		Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dennd4a	G	A	9: 64,819,672 (GRCm39)	G1761D	probably benign	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,879,191 (GRCm39)	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Flt1	A	T	5: 147,507,682 (GRCm39)	D1209E	probably benign	Het
Flt1	A	T	5: 147,618,460 (GRCm39)	N260K	probably damaging	Het
Fras1	A	G	5: 96,917,465 (GRCm39)	H3495R		Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573 (GRCm39)	C270*	probably null	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,244,880 (GRCm39)	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,885,721 (GRCm39)	D44G	probably benign	Het
Hap1	C	A	11: 100,246,864 (GRCm39)	G14W	probably damaging	Het
Hcn4	T	A	9: 58,765,387 (GRCm39)	I623N	unknown	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,754,237 (GRCm39)	L1622Q	unknown	Het
Lipi	T	A	16: 75,355,481 (GRCm39)	D343V	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mamstr	A	T	7: 45,294,403 (GRCm39)	D419V	probably benign	Het
Map2k7	C	T	8: 4,293,594 (GRCm39)	T119I	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Mrps24	A	T	11: 5,654,642 (GRCm39)	L104Q	probably damaging	Het
Myh1	T	A	11: 67,102,247 (GRCm39)	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,025,840 (GRCm39)	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,609,655 (GRCm39)		probably null	Het
Numa1	G	C	7: 101,639,835 (GRCm39)	D62H	possibly damaging	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or52e19	T	A	7: 102,959,168 (GRCm39)	I80N	probably damaging	Het
Or52p2	G	T	7: 102,237,945 (GRCm39)	Q2K	probably benign	Het
Or8b12c	C	G	9: 37,715,709 (GRCm39)	F167L	probably damaging	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,069,526 (GRCm39)	T144A	probably benign	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Pramel14	A	T	4: 143,720,905 (GRCm39)	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,334,235 (GRCm39)	D230G	probably benign	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Sec16a	G	A	2: 26,329,852 (GRCm39)	T721I	probably benign	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Sgk1	T	G	10: 21,871,726 (GRCm39)	S181A	probably benign	Het
Slc25a10	T	C	11: 120,385,795 (GRCm39)	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Snapc4	G	A	2: 26,264,545 (GRCm39)	R265W	probably damaging	Het
Taar1	C	T	10: 23,796,976 (GRCm39)	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Trank1	T	C	9: 111,141,289 (GRCm39)	V127A	unknown	Het
Trim66	G	T	7: 109,081,188 (GRCm39)	H244N	probably damaging	Het
Tshz2	T	A	2: 169,728,425 (GRCm39)	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfand1	T	C	3: 10,405,811 (GRCm39)	D264G	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	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
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
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'- TTTCTCAGAGCGGTAGCCTC -3'
(R):5'- GACGAGATTCTCACAGCCAG -3'

Sequencing Primer
(F):5'- AAGGTTGGCATTCTCATCCAG -3'
(R):5'- GGGCTGCAGACACGGAAC -3'

Posted On

2021-07-15