Incidental Mutation 'R4448:Pag1'
ID 328825
Institutional Source Beutler Lab
Gene Symbol Pag1
Ensembl Gene ENSMUSG00000027508
Gene Name phosphoprotein associated with glycosphingolipid microdomains 1
Synonyms F730007C19Rik, Cbp
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 9752539-9898739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9764526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 209 (E209G)
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: E209G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: E209G

DomainStartEndE-ValueType
Pfam:PAG 1 429 8.7e-209 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159825
Predicted Effect probably benign
Transcript: ENSMUST00000161949
AA Change: E209G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: E209G

DomainStartEndE-ValueType
Pfam:PAG 2 429 1.4e-208 PFAM
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
Ezr T C 17: 7,020,473 (GRCm39) I203V probably benign Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gpr4 G A 7: 18,956,926 (GRCm39) A283T probably damaging Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Hoxc12 A G 15: 102,846,911 (GRCm39) K268E probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Pttg1 A T 11: 43,315,517 (GRCm39) probably benign Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Sqstm1 A G 11: 50,093,866 (GRCm39) probably benign Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
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'- TAGCCTCAGCATGACCCAAG -3'
(R):5'- CGTGGACGAGATTCTCACAG -3'

Sequencing Primer
(F):5'- AAGCCCACCTTGCTGTG -3'
(R):5'- GACGAGATTCTCACAGCCAGG -3'
Posted On 2015-07-21