Incidental Mutation 'R5031:Gsap'
ID 391684
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
MMRRC Submission 042622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5031 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21447824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 294 (S294N)
Ref Sequence ENSEMBL: ENSMUSP00000043679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198071] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000036031
AA Change: S294N

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: S294N

DomainStartEndE-ValueType
low complexity region 386 398 N/A INTRINSIC
Pfam:GSAP-16 646 753 6.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197522
Predicted Effect probably benign
Transcript: ENSMUST00000198014
Predicted Effect probably benign
Transcript: ENSMUST00000198071
Predicted Effect probably benign
Transcript: ENSMUST00000198937
AA Change: S294N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: S294N

DomainStartEndE-ValueType
low complexity region 355 367 N/A INTRINSIC
Pfam:GSAP-16 608 722 1.6e-42 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 89.9%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,678 (GRCm39) N2475I probably damaging Het
Acnat2 T C 4: 49,380,631 (GRCm39) K231R probably damaging Het
Ank1 C T 8: 23,589,696 (GRCm39) P599L probably damaging Het
Arhgef19 A G 4: 140,978,121 (GRCm39) E580G probably damaging Het
Atr A G 9: 95,747,755 (GRCm39) K346E probably damaging Het
AU021092 T C 16: 5,030,468 (GRCm39) K309E probably damaging Het
Baz2b T C 2: 59,743,151 (GRCm39) R1607G probably benign Het
Cct8 C T 16: 87,284,426 (GRCm39) V254M probably damaging Het
Cdca2 T A 14: 67,950,602 (GRCm39) I110F probably damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Dmkn A G 7: 30,463,661 (GRCm39) I105V probably benign Het
Dock1 A G 7: 134,753,975 (GRCm39) D1584G probably benign Het
Epg5 G A 18: 78,072,163 (GRCm39) V2392I probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hectd2 A G 19: 36,577,004 (GRCm39) N142D probably damaging Het
Hmcn1 A G 1: 150,464,008 (GRCm39) C5091R probably damaging Het
Ifitm5 G A 7: 140,530,017 (GRCm39) R36* probably null Het
Ints2 G A 11: 86,147,026 (GRCm39) P40L probably damaging Het
Irs1 A T 1: 82,264,688 (GRCm39) L1176* probably null Het
Klhl29 C T 12: 5,141,334 (GRCm39) R550Q probably benign Het
Kyat1 A G 2: 30,078,102 (GRCm39) M134T probably damaging Het
Lrrk2 A T 15: 91,584,822 (GRCm39) N384Y possibly damaging Het
Magel2 T C 7: 62,029,852 (GRCm39) S919P unknown Het
Mettl16 A T 11: 74,693,825 (GRCm39) I279F probably benign Het
Mmut T C 17: 41,249,718 (GRCm39) F231S possibly damaging Het
Mrgpra1 A T 7: 46,984,985 (GRCm39) Y231* probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mvp A C 7: 126,592,788 (GRCm39) Y374* probably null Het
Nabp2 G A 10: 128,245,497 (GRCm39) probably benign Het
Nos1 C T 5: 118,017,378 (GRCm39) P247L probably benign Het
Or10ag53 C A 2: 87,082,426 (GRCm39) F48L probably benign Het
Or9g4b T A 2: 85,616,062 (GRCm39) L69* probably null Het
Pik3cb C T 9: 98,953,461 (GRCm39) D441N probably damaging Het
Qrich1 C T 9: 108,418,935 (GRCm39) P464S possibly damaging Het
Rab17 A T 1: 90,887,860 (GRCm39) probably null Het
Relch A G 1: 105,592,239 (GRCm39) N136S probably damaging Het
Rspo3 A T 10: 29,382,443 (GRCm39) L77H probably damaging Het
Spn G T 7: 126,736,402 (GRCm39) T35K probably benign Het
Sult1d1 T A 5: 87,707,703 (GRCm39) Y139F possibly damaging Het
Tbc1d32 C A 10: 55,999,627 (GRCm39) Q848H probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tram1l1 T A 3: 124,115,293 (GRCm39) L151* probably null Het
Trappc12 T A 12: 28,742,512 (GRCm39) I682L possibly damaging Het
Trav6d-4 A C 14: 52,991,056 (GRCm39) T31P probably damaging Het
Trpm8 A G 1: 88,275,910 (GRCm39) T503A probably benign Het
Virma T A 4: 11,542,116 (GRCm39) Y1567* probably null Het
Vmn1r228 T A 17: 20,996,943 (GRCm39) K192* probably null Het
Zfp521 T A 18: 13,977,330 (GRCm39) T1028S possibly damaging Het
Zfp583 T A 7: 6,320,397 (GRCm39) Q205L probably benign Het
Other mutations in Gsap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Gsap APN 5 21,459,022 (GRCm39) missense probably damaging 0.96
IGL00788:Gsap APN 5 21,426,303 (GRCm39) splice site probably benign
IGL01344:Gsap APN 5 21,447,881 (GRCm39) critical splice donor site probably null
IGL01347:Gsap APN 5 21,431,318 (GRCm39) missense probably benign 0.08
IGL01618:Gsap APN 5 21,431,246 (GRCm39) missense probably damaging 1.00
IGL01730:Gsap APN 5 21,495,152 (GRCm39) unclassified probably benign
IGL02061:Gsap APN 5 21,486,609 (GRCm39) splice site probably benign
IGL02161:Gsap APN 5 21,458,377 (GRCm39) missense probably damaging 1.00
IGL02259:Gsap APN 5 21,391,398 (GRCm39) missense probably benign 0.01
IGL02635:Gsap APN 5 21,494,814 (GRCm39) missense probably damaging 1.00
IGL02684:Gsap APN 5 21,447,801 (GRCm39) critical splice acceptor site probably null
IGL02822:Gsap APN 5 21,422,442 (GRCm39) missense probably damaging 1.00
IGL03231:Gsap APN 5 21,434,164 (GRCm39) missense probably damaging 0.99
PIT4305001:Gsap UTSW 5 21,391,407 (GRCm39) missense probably damaging 0.98
R0012:Gsap UTSW 5 21,431,227 (GRCm39) splice site probably benign
R0012:Gsap UTSW 5 21,431,227 (GRCm39) splice site probably benign
R0019:Gsap UTSW 5 21,475,620 (GRCm39) splice site probably benign
R0019:Gsap UTSW 5 21,475,620 (GRCm39) splice site probably benign
R0045:Gsap UTSW 5 21,431,830 (GRCm39) missense possibly damaging 0.77
R0054:Gsap UTSW 5 21,455,933 (GRCm39) splice site probably benign
R0054:Gsap UTSW 5 21,455,933 (GRCm39) splice site probably benign
R0409:Gsap UTSW 5 21,427,443 (GRCm39) splice site probably benign
R0507:Gsap UTSW 5 21,474,961 (GRCm39) missense possibly damaging 0.75
R0624:Gsap UTSW 5 21,458,949 (GRCm39) splice site probably null
R1037:Gsap UTSW 5 21,456,163 (GRCm39) splice site probably benign
R1076:Gsap UTSW 5 21,492,692 (GRCm39) missense possibly damaging 0.75
R1459:Gsap UTSW 5 21,412,236 (GRCm39) splice site probably benign
R1757:Gsap UTSW 5 21,486,035 (GRCm39) missense probably damaging 0.98
R1852:Gsap UTSW 5 21,495,543 (GRCm39) splice site probably null
R2034:Gsap UTSW 5 21,475,593 (GRCm39) missense probably damaging 1.00
R2069:Gsap UTSW 5 21,431,837 (GRCm39) splice site probably benign
R2125:Gsap UTSW 5 21,447,811 (GRCm39) missense probably damaging 1.00
R2172:Gsap UTSW 5 21,427,438 (GRCm39) critical splice donor site probably null
R2310:Gsap UTSW 5 21,401,088 (GRCm39) nonsense probably null
R2337:Gsap UTSW 5 21,493,628 (GRCm39) missense probably damaging 1.00
R3442:Gsap UTSW 5 21,483,125 (GRCm39) missense probably damaging 1.00
R4229:Gsap UTSW 5 21,451,975 (GRCm39) missense probably benign 0.00
R4271:Gsap UTSW 5 21,431,348 (GRCm39) critical splice donor site probably null
R4551:Gsap UTSW 5 21,495,569 (GRCm39) missense probably damaging 1.00
R4553:Gsap UTSW 5 21,495,569 (GRCm39) missense probably damaging 1.00
R4649:Gsap UTSW 5 21,431,309 (GRCm39) missense probably damaging 1.00
R4687:Gsap UTSW 5 21,451,969 (GRCm39) utr 3 prime probably benign
R4799:Gsap UTSW 5 21,455,941 (GRCm39) missense probably benign 0.05
R4857:Gsap UTSW 5 21,492,797 (GRCm39) splice site probably null
R4973:Gsap UTSW 5 21,459,037 (GRCm39) missense probably benign 0.04
R5015:Gsap UTSW 5 21,427,406 (GRCm39) missense probably damaging 1.00
R5120:Gsap UTSW 5 21,474,934 (GRCm39) missense probably damaging 0.96
R5451:Gsap UTSW 5 21,422,445 (GRCm39) missense probably damaging 1.00
R5469:Gsap UTSW 5 21,495,542 (GRCm39) missense possibly damaging 0.92
R5519:Gsap UTSW 5 21,494,857 (GRCm39) missense probably damaging 1.00
R5588:Gsap UTSW 5 21,456,147 (GRCm39) missense probably damaging 1.00
R5650:Gsap UTSW 5 21,456,051 (GRCm39) missense probably damaging 0.99
R6064:Gsap UTSW 5 21,434,223 (GRCm39) missense possibly damaging 0.56
R6139:Gsap UTSW 5 21,486,538 (GRCm39) missense probably damaging 1.00
R6148:Gsap UTSW 5 21,475,575 (GRCm39) missense probably benign 0.39
R6148:Gsap UTSW 5 21,431,323 (GRCm39) missense probably damaging 1.00
R6226:Gsap UTSW 5 21,422,429 (GRCm39) missense probably damaging 1.00
R6859:Gsap UTSW 5 21,486,016 (GRCm39) missense probably damaging 0.99
R6977:Gsap UTSW 5 21,476,219 (GRCm39) missense probably damaging 1.00
R6995:Gsap UTSW 5 21,476,235 (GRCm39) missense possibly damaging 0.58
R7013:Gsap UTSW 5 21,483,108 (GRCm39) missense probably benign 0.39
R7159:Gsap UTSW 5 21,475,618 (GRCm39) splice site probably null
R7181:Gsap UTSW 5 21,458,427 (GRCm39) missense probably damaging 1.00
R7234:Gsap UTSW 5 21,391,433 (GRCm39) missense probably benign
R7332:Gsap UTSW 5 21,495,119 (GRCm39) missense probably benign 0.00
R7381:Gsap UTSW 5 21,431,785 (GRCm39) missense probably damaging 0.96
R8047:Gsap UTSW 5 21,462,866 (GRCm39) critical splice acceptor site probably null
R8062:Gsap UTSW 5 21,399,461 (GRCm39) missense probably damaging 1.00
R8126:Gsap UTSW 5 21,475,010 (GRCm39) missense probably benign 0.04
R8219:Gsap UTSW 5 21,456,113 (GRCm39) missense probably benign 0.00
R8355:Gsap UTSW 5 21,456,017 (GRCm39) nonsense probably null
R8472:Gsap UTSW 5 21,427,432 (GRCm39) nonsense probably null
R8715:Gsap UTSW 5 21,431,245 (GRCm39) missense possibly damaging 0.84
R8745:Gsap UTSW 5 21,474,949 (GRCm39) missense probably benign 0.05
R8798:Gsap UTSW 5 21,476,248 (GRCm39) critical splice donor site probably null
R9080:Gsap UTSW 5 21,399,410 (GRCm39) missense possibly damaging 0.52
R9120:Gsap UTSW 5 21,458,434 (GRCm39) missense probably damaging 1.00
R9178:Gsap UTSW 5 21,422,471 (GRCm39) missense probably damaging 0.98
R9209:Gsap UTSW 5 21,433,064 (GRCm39) missense probably benign 0.10
R9404:Gsap UTSW 5 21,474,919 (GRCm39) missense probably damaging 1.00
Z1177:Gsap UTSW 5 21,456,030 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCTGACCTGAAATTTCATAGCAGC -3'
(R):5'- GAACAAATGACAGCCTGGC -3'

Sequencing Primer
(F):5'- CATAGCAGCTTGATAATATCCCTTTG -3'
(R):5'- TGACAGCCTGGCATAAAAACATATAG -3'
Posted On 2016-06-06