Incidental Mutation 'R5475:Pea15a'
ID434000
Institutional Source Beutler Lab
Gene Symbol Pea15a
Ensembl Gene ENSMUSG00000013698
Gene Namephosphoprotein enriched in astrocytes 15A
SynonymsPea15, Mat1, PEA-15, Pkcs15
MMRRC Submission 043036-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #R5475 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location172196728-172206804 bp(-) (GRCm38)
Type of Mutationsplice site (3776 bp from exon)
DNA Base Change (assembly) A to G at 172199242 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013842] [ENSMUST00000074144] [ENSMUST00000111247] [ENSMUST00000155109] [ENSMUST00000191689] [ENSMUST00000192704] [ENSMUST00000193638]
Predicted Effect probably damaging
Transcript: ENSMUST00000013842
AA Change: I66T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000013842
Gene: ENSMUSG00000013698
AA Change: I66T

DomainStartEndE-ValueType
DED 2 81 2.25e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000074144
SMART Domains Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
WD40 369 409 1.43e0 SMART
WD40 415 457 2.58e-1 SMART
WD40 460 500 5.91e-2 SMART
low complexity region 544 556 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111247
AA Change: I44T

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106878
Gene: ENSMUSG00000013698
AA Change: I44T

DomainStartEndE-ValueType
DED 2 59 9.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152432
Predicted Effect possibly damaging
Transcript: ENSMUST00000155109
AA Change: I66T

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117735
Gene: ENSMUSG00000013698
AA Change: I66T

DomainStartEndE-ValueType
DED 2 81 2.25e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000191689
SMART Domains Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
WD40 369 409 1.43e0 SMART
WD40 415 457 2.58e-1 SMART
WD40 460 500 5.91e-2 SMART
low complexity region 544 556 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000191891
Predicted Effect probably null
Transcript: ENSMUST00000192704
SMART Domains Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
WD40 369 409 1.43e0 SMART
WD40 415 457 2.58e-1 SMART
WD40 460 500 5.91e-2 SMART
low complexity region 544 556 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193638
SMART Domains Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
Meta Mutation Damage Score 0.7428 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency 96% (72/75)
MGI Phenotype FUNCTION: This gene encodes an adaptor protein that functions as a negative regulator of apoptosis induced by tumor necrosis factor-alpha, tumor necrosis factor-related apoptosis-inducing ligand, and Fas, through its interaction with fas-associated protein with death domain and caspase-8. It also regulates proliferation signaling by relocating the extracellular signal-regulated protein kinases 1 and 2 to the cytosol. The protein encoded by this gene contains an N-terminal death effector domain and a long, flexible C-terminal tail. In humans, the encoded protein is an endogenous substrate for protein kinase C. This protein is overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice exhibit reduced body weight. Although Tnfa-induced apoptosis was increased in astrocytes in vitro, glial cell and brain morphology is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110001I22Rik A T 16: 13,677,113 R25S possibly damaging Het
4930505A04Rik C T 11: 30,426,349 V173M probably damaging Het
AA467197 A G 2: 122,640,726 K70R probably damaging Het
Agr3 A G 12: 35,947,540 N83S probably benign Het
Alpk2 T C 18: 65,307,012 T904A probably benign Het
Ank A T 15: 27,557,199 K156N probably damaging Het
Arsb T G 13: 93,862,265 D360E probably benign Het
Atg14 C T 14: 47,568,336 R24Q possibly damaging Het
Cacna1e A T 1: 154,725,709 F71I possibly damaging Het
Cdc42bpg T C 19: 6,311,071 I242T probably damaging Het
Cngb1 A T 8: 95,251,969 I588N probably damaging Het
Col6a6 T C 9: 105,774,338 H1158R probably null Het
Cse1l T C 2: 166,941,254 S684P probably damaging Het
Cyp2c29 A T 19: 39,330,287 M404L possibly damaging Het
D5Ertd579e G T 5: 36,615,257 S598Y probably damaging Het
Dph7 A T 2: 24,968,957 probably null Het
Dsg1c A T 18: 20,282,031 N662Y probably damaging Het
Efcab9 T G 11: 32,522,862 D195A probably damaging Het
Ephb4 A G 5: 137,354,439 M95V probably benign Het
Fam171a1 A T 2: 3,225,297 Y489F possibly damaging Het
Fars2 T C 13: 36,204,570 I14T probably benign Het
Fbxo34 T C 14: 47,529,345 V54A probably benign Het
Fbxw17 T C 13: 50,425,648 I167T probably benign Het
Fzd9 A T 5: 135,250,269 probably null Het
Gm26996 T A 6: 130,579,955 noncoding transcript Het
Gm4744 A G 6: 40,950,454 probably benign Het
Gm4744 T A 6: 40,950,469 probably benign Het
Gprc5c G T 11: 114,864,267 V257L possibly damaging Het
H2-Ke6 C T 17: 34,027,313 probably benign Het
Has1 C A 17: 17,848,321 R257L possibly damaging Het
Hfe2 T C 3: 96,527,283 S113P probably benign Het
Kat2b T G 17: 53,663,581 V665G probably damaging Het
Klhdc4 T A 8: 121,799,572 H276L possibly damaging Het
Klhl6 A T 16: 19,948,127 C506S probably damaging Het
Ldb2 T C 5: 44,541,832 Y88C probably damaging Het
Lrit1 A G 14: 37,055,001 E26G probably benign Het
Mcoln2 A G 3: 146,183,786 Y414C probably damaging Het
Mfsd5 A G 15: 102,280,493 D100G probably damaging Het
Micall2 T A 5: 139,716,469 S340C probably damaging Het
Npsr1 T C 9: 24,300,419 I81T probably damaging Het
Olfr1344 G T 7: 6,440,170 R90L probably benign Het
Olfr331 A G 11: 58,501,605 V317A probably benign Het
Olfr923 T A 9: 38,828,466 F258L possibly damaging Het
Olfr986 T A 9: 40,187,709 L198H possibly damaging Het
Pax3 T C 1: 78,103,418 T444A probably benign Het
Phc1 T A 6: 122,334,092 Q95L possibly damaging Het
Plch2 T C 4: 155,000,137 Y361C probably damaging Het
Rad54l2 C T 9: 106,705,858 G787D probably damaging Het
Rbm20 G T 19: 53,834,705 E578* probably null Het
Sipa1l2 A T 8: 125,491,595 D334E probably damaging Het
Tbc1d2 C T 4: 46,629,912 G252R probably benign Het
Thumpd1 A G 7: 119,720,720 S8P probably benign Het
Tnxb T C 17: 34,689,593 Y1407H probably damaging Het
Trav2 T A 14: 52,567,833 V37E probably damaging Het
Trav3-1 G T 14: 52,581,037 W56L probably damaging Het
Usp31 A T 7: 121,651,526 L808Q probably damaging Het
Vmn1r52 C T 6: 90,178,912 A66V probably benign Het
Vmn2r105 T A 17: 20,234,782 I31L probably benign Het
Wdr1 C T 5: 38,529,588 G278S probably damaging Het
Zbtb2 G T 10: 4,369,275 F250L probably benign Het
Other mutations in Pea15a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2002:Pea15a UTSW 1 172198685 missense probably benign 0.01
R2264:Pea15a UTSW 1 172199137 missense probably benign 0.01
R4831:Pea15a UTSW 1 172199173 missense probably damaging 1.00
R6074:Pea15a UTSW 1 172199185 missense possibly damaging 0.78
R7606:Pea15a UTSW 1 172200583 critical splice acceptor site probably null
R8273:Pea15a UTSW 1 172199245 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCTCCCCAAATTCAGAATGACTTTC -3'
(R):5'- TGTATTTGGCTGCCTCCAAC -3'

Sequencing Primer
(F):5'- CAAGCAGATTTCTGAGTTCGAGGC -3'
(R):5'- AACTTTCTTTTCCTGGCTTGGTAG -3'
Posted On2016-10-06