Incidental Mutation 'R9584:Pag1'
ID 722691
Institutional Source Beutler Lab
Gene Symbol Pag1
Ensembl Gene ENSMUSG00000027508
Gene Name phosphoprotein associated with glycosphingolipid microdomains 1
Synonyms F730007C19Rik, Cbp
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9584 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 9752539-9898739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9761214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 298 (S298P)
Ref Sequence ENSEMBL: ENSMUSP00000104021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108384] [ENSMUST00000161949]
AlphaFold Q3U1F9
Predicted Effect probably damaging
Transcript: ENSMUST00000108384
AA Change: S298P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: S298P

DomainStartEndE-ValueType
Pfam:PAG 1 429 8.7e-209 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161949
AA Change: S298P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: S298P

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T G 13: 70,949,136 (GRCm39) D175A probably damaging Het
Ankhd1 A T 18: 36,798,504 (GRCm39) N635Y probably benign Het
Asxl2 T C 12: 3,550,667 (GRCm39) V803A possibly damaging Het
Brsk1 T A 7: 4,709,662 (GRCm39) S430T possibly damaging Het
Btbd8 A T 5: 107,658,347 (GRCm39) H1639L probably benign Het
Cacna2d2 T C 9: 107,277,404 (GRCm39) L46P probably damaging Het
Casz1 A G 4: 148,985,704 (GRCm39) probably benign Het
Catsper2 A T 2: 121,230,301 (GRCm39) N344K probably damaging Het
Ccdc80 A G 16: 44,915,675 (GRCm39) S144G probably damaging Het
Cdh10 A T 15: 18,992,095 (GRCm39) L451F probably benign Het
Chil6 A G 3: 106,301,672 (GRCm39) F143L probably damaging Het
Dock7 G A 4: 98,861,481 (GRCm39) R1379* probably null Het
Dop1a C A 9: 86,385,151 (GRCm39) L366I possibly damaging Het
Foxg1 G A 12: 49,432,406 (GRCm39) V380M possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hipk3 A G 2: 104,301,910 (GRCm39) V94A probably benign Het
Impg1 T C 9: 80,322,849 (GRCm39) H52R probably benign Het
Kcnv2 T C 19: 27,300,265 (GRCm39) S39P probably damaging Het
Knop1 G A 7: 118,447,709 (GRCm39) S417L unknown Het
Muc1 C T 3: 89,138,373 (GRCm39) T405I probably benign Het
Nlrp2 C A 7: 5,322,215 (GRCm39) D811Y probably damaging Het
Nvl A G 1: 180,958,431 (GRCm39) L206S probably benign Het
Or5ac19 A G 16: 59,089,580 (GRCm39) L150S probably benign Het
Or8g17 G A 9: 38,930,462 (GRCm39) A125V probably damaging Het
Orai3 G T 7: 127,373,177 (GRCm39) R226L probably benign Het
Pacs1 T C 19: 5,322,622 (GRCm39) M99V probably benign Het
Pde4c T C 8: 71,200,728 (GRCm39) V419A probably benign Het
Pitpna C A 11: 75,510,368 (GRCm39) N208K probably benign Het
Pnpo C A 11: 96,831,705 (GRCm39) E114* probably null Het
Pou5f2 A G 13: 78,173,592 (GRCm39) E178G possibly damaging Het
Psph G A 5: 129,847,752 (GRCm39) R65C probably damaging Het
Sgsh T C 11: 119,241,789 (GRCm39) S106G possibly damaging Het
Synrg A G 11: 83,900,200 (GRCm39) K724R probably damaging Het
Tet1 A T 10: 62,655,306 (GRCm39) F1538L probably damaging Het
Thada G A 17: 84,733,605 (GRCm39) T1014I probably benign Het
Topbp1 T C 9: 103,219,242 (GRCm39) W1165R probably damaging Het
Trrap G A 5: 144,777,330 (GRCm39) V3043M probably damaging Het
Tshz1 G A 18: 84,033,089 (GRCm39) H440Y probably damaging Het
Vwa8 A G 14: 79,394,549 (GRCm39) D1550G probably benign Het
Other mutations in Pag1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R9092:Pag1 UTSW 3 9,764,848 (GRCm39) missense probably benign 0.29
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'- CTGGGATTACAGACTTAGCTTCC -3'
(R):5'- GACCTCTGTACACCGTGAAG -3'

Sequencing Primer
(F):5'- CAGAAGCACTGCATGGAATCCTTTG -3'
(R):5'- TACACCGTGAAGCCGCCAG -3'
Posted On 2022-08-09