Incidental Mutation 'R6157:Pag1'
ID 489637
Institutional Source Beutler Lab
Gene Symbol Pag1
Ensembl Gene ENSMUSG00000027508
Gene Name phosphoprotein associated with glycosphingolipid microdomains 1
Synonyms F730007C19Rik, Cbp
MMRRC Submission 044304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6157 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 9752539-9898739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9758896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 407 (H407Q)
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: H407Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: H407Q

DomainStartEndE-ValueType
Pfam:PAG 1 429 8.7e-209 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159825
Predicted Effect probably benign
Transcript: ENSMUST00000161949
AA Change: H407Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: H407Q

DomainStartEndE-ValueType
Pfam:PAG 2 429 1.4e-208 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency 93% (40/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,947,617 (GRCm39) K505E possibly damaging Het
Abcb1b A T 5: 8,874,245 (GRCm39) N390I possibly damaging Het
Apob A T 12: 8,056,077 (GRCm39) M1520L probably benign Het
Atg4c C T 4: 99,123,400 (GRCm39) R396* probably null Het
Atp2a3 G A 11: 72,871,442 (GRCm39) V648M probably damaging Het
Blm T C 7: 80,162,733 (GRCm39) D203G probably benign Het
Csrnp3 A T 2: 65,779,363 (GRCm39) D13V probably damaging Het
Dnajc10 A T 2: 80,147,735 (GRCm39) probably benign Het
Dst A G 1: 34,250,253 (GRCm39) Y1729C probably damaging Het
Dynlt2b G A 16: 32,238,660 (GRCm39) A12T possibly damaging Het
Ecsit T C 9: 21,985,987 (GRCm39) Y213C probably damaging Het
Fer A G 17: 64,385,880 (GRCm39) K654R probably damaging Het
Hdac9 G T 12: 34,439,428 (GRCm39) A383E probably damaging Het
Hltf T A 3: 20,130,660 (GRCm39) S293T probably benign Het
Hydin T A 8: 111,254,648 (GRCm39) D2359E probably benign Het
Inf2 A G 12: 112,571,222 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,504 (GRCm39) N289S possibly damaging Het
Meioc T C 11: 102,559,227 (GRCm39) S50P probably damaging Het
Mocs1 G T 17: 49,761,764 (GRCm39) E619D probably benign Het
Nfatc2 A G 2: 168,361,371 (GRCm39) probably benign Het
Or51i1 T A 7: 103,671,105 (GRCm39) N140I possibly damaging Het
Plaat1 A G 16: 29,036,501 (GRCm39) I46M possibly damaging Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pld4 C T 12: 112,734,535 (GRCm39) T432I probably damaging Het
Psd3 T G 8: 68,574,179 (GRCm39) M1L probably benign Het
Rasgrp2 C A 19: 6,452,531 (GRCm39) L35I probably damaging Het
Ripor2 T C 13: 24,885,052 (GRCm39) L390P probably damaging Het
Rpgrip1 A T 14: 52,349,631 (GRCm39) E6D probably benign Het
Ryr3 A T 2: 112,672,244 (GRCm39) L1409Q probably damaging Het
Slc6a5 A G 7: 49,601,250 (GRCm39) T684A probably benign Het
Smpd4 G T 16: 17,458,930 (GRCm39) probably null Het
Snx18 T C 13: 113,753,725 (GRCm39) S403G probably damaging Het
Spsb4 G T 9: 96,878,160 (GRCm39) H54Q probably damaging Het
Ssrp1 A G 2: 84,871,072 (GRCm39) Y236C probably damaging Het
Tenm3 C T 8: 48,751,843 (GRCm39) S982N probably damaging Het
Tet1 A G 10: 62,675,749 (GRCm39) S776P probably damaging Het
Tln1 G A 4: 43,534,744 (GRCm39) P2166S probably benign Het
Ufl1 T A 4: 25,279,350 (GRCm39) Q83L possibly damaging Het
Unc80 A T 1: 66,693,188 (GRCm39) K2458* probably null Het
Ush2a A T 1: 188,460,467 (GRCm39) Y2576F probably benign Het
Xrcc6 C A 15: 81,913,305 (GRCm39) probably null Het
Zbtb48 A G 4: 152,106,064 (GRCm39) F380L probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K 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
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'- CTGGGAGACTGCACTTGAAG -3'
(R):5'- GTATGAAAGGGCCAGAATCTGC -3'

Sequencing Primer
(F):5'- GGAGACTGCACTTGAAGATTTCAGTC -3'
(R):5'- AGAGGTCGTCATCTTCCTGCAATG -3'
Posted On 2017-10-10