Incidental Mutation 'R0561:Pag1'
ID 45858
Institutional Source Beutler Lab
Gene Symbol Pag1
Ensembl Gene ENSMUSG00000027508
Gene Name phosphoprotein associated with glycosphingolipid microdomains 1
Synonyms F730007C19Rik, Cbp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0561 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 9752539-9898739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9764481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 224 (Y224F)
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: Y224F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: Y224F

DomainStartEndE-ValueType
Pfam:PAG 1 429 8.7e-209 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159825
Predicted Effect probably damaging
Transcript: ENSMUST00000161949
AA Change: Y224F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: Y224F

DomainStartEndE-ValueType
Pfam:PAG 2 429 1.4e-208 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A G 12: 88,335,204 (GRCm39) D30G possibly damaging Het
Apc A T 18: 34,446,356 (GRCm39) H1050L possibly damaging Het
Armc2 A G 10: 41,869,188 (GRCm39) V166A probably benign Het
Atp6v1b1 A T 6: 83,730,793 (GRCm39) I173F probably damaging Het
Bpifb4 A G 2: 153,786,742 (GRCm39) D298G probably damaging Het
C4b T A 17: 34,953,391 (GRCm39) S1031C probably damaging Het
Calcr A G 6: 3,692,630 (GRCm39) I408T probably damaging Het
Catsperg1 T C 7: 28,881,737 (GRCm39) N1009S probably damaging Het
Ces2a T C 8: 105,464,165 (GRCm39) S266P probably benign Het
Chrna1 A G 2: 73,396,596 (GRCm39) V433A possibly damaging Het
Ctnnb1 G A 9: 120,780,788 (GRCm39) V291M probably damaging Het
Dcbld1 T C 10: 52,138,032 (GRCm39) Y99H probably benign Het
Ddx60 A T 8: 62,470,828 (GRCm39) H1440L possibly damaging Het
Dsg1c A T 18: 20,407,832 (GRCm39) I393L probably benign Het
Eif5 G T 12: 111,506,950 (GRCm39) R128L probably benign Het
Ercc3 A G 18: 32,378,592 (GRCm39) D191G possibly damaging Het
Gp1ba A T 11: 70,530,416 (GRCm39) probably benign Het
Krt24 C T 11: 99,175,439 (GRCm39) E199K probably damaging Het
Lrif1 G T 3: 106,639,481 (GRCm39) A164S probably damaging Het
Map2 A G 1: 66,464,656 (GRCm39) D1682G probably damaging Het
Megf8 C T 7: 25,028,257 (GRCm39) P274S probably benign Het
Mslnl C T 17: 25,962,177 (GRCm39) Q192* probably null Het
Nfkb2 T C 19: 46,298,301 (GRCm39) V535A possibly damaging Het
Or10q1 A T 19: 13,726,662 (GRCm39) Y64F probably damaging Het
Or4a66 A G 2: 88,530,914 (GRCm39) I253T possibly damaging Het
Or4c11 T A 2: 88,695,024 (GRCm39) V25E possibly damaging Het
Or7a37 T A 10: 78,805,729 (GRCm39) L82* probably null Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8g22 C T 9: 38,958,669 (GRCm39) M15I probably damaging Het
Pbrm1 A C 14: 30,757,948 (GRCm39) I193L probably benign Het
Phrf1 T C 7: 140,834,876 (GRCm39) V17A probably benign Het
Plekhg2 T G 7: 28,069,908 (GRCm39) T42P probably benign Het
Pmp22 T A 11: 63,025,250 (GRCm39) W28R probably damaging Het
Ppp1r13b A T 12: 111,832,880 (GRCm39) H82Q probably damaging Het
Rgs8 T C 1: 153,541,668 (GRCm39) probably null Het
Rtl1 A G 12: 109,560,363 (GRCm39) V492A probably damaging Het
Slc22a27 A G 19: 7,857,527 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,090 (GRCm39) E79G probably null Het
Syde1 C T 10: 78,425,210 (GRCm39) R267H probably damaging Het
Tas2r114 A G 6: 131,666,758 (GRCm39) I90T probably benign Het
Tjp3 C T 10: 81,109,674 (GRCm39) G843D probably benign Het
Tln1 A T 4: 43,550,304 (GRCm39) M453K possibly damaging Het
Ttc39a A T 4: 109,297,799 (GRCm39) Y408F probably damaging Het
Usp39 T G 6: 72,313,368 (GRCm39) Q274P probably damaging Het
Uvrag C T 7: 98,537,768 (GRCm39) V476I probably damaging Het
Vcan T A 13: 89,860,372 (GRCm39) T332S probably damaging Het
Vcan T A 13: 89,879,583 (GRCm39) H22L possibly damaging Het
Wls A G 3: 159,578,705 (GRCm39) D89G probably benign Het
Zfhx2 A T 14: 55,303,346 (GRCm39) V1546E probably benign Het
Zfp457 T A 13: 67,442,134 (GRCm39) H147L probably damaging 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
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
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'- ATTTCTCAGAGCGGTAGCCTCAGC -3'
(R):5'- GGTCCACGCACTGGTTATTCACAC -3'

Sequencing Primer
(F):5'- AAGCCCACCTTGCTGTG -3'
(R):5'- GTTCTTTCAGAAGACAGCACG -3'
Posted On 2013-06-11