Incidental Mutation 'R8472:Gsap'
ID 657062
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
MMRRC Submission 067916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R8472 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 21427432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 187 (R187*)
Ref Sequence ENSEMBL: ENSMUSP00000142986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198071] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect probably null
Transcript: ENSMUST00000036031
AA Change: R187*
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: R187*

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 probably null
Transcript: ENSMUST00000198014
AA Change: R187*
Predicted Effect probably benign
Transcript: ENSMUST00000198071
Predicted Effect probably null
Transcript: ENSMUST00000198937
AA Change: R187*
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: R187*

DomainStartEndE-ValueType
low complexity region 355 367 N/A INTRINSIC
Pfam:GSAP-16 608 722 1.6e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,568 (GRCm39) H21Q possibly damaging Het
Ccdc7a A G 8: 129,754,138 (GRCm39) S152P probably damaging Het
Ccnj T C 19: 40,833,608 (GRCm39) S222P probably damaging Het
Cdcp2 C T 4: 106,959,981 (GRCm39) A132V probably damaging Het
Cnksr3 G T 10: 7,084,532 (GRCm39) P71Q probably damaging Het
Col9a3 C T 2: 180,247,057 (GRCm39) P185L probably damaging Het
Cpm T C 10: 117,515,883 (GRCm39) V319A probably damaging Het
Ctxn2 A G 2: 124,989,528 (GRCm39) I52V possibly damaging Het
Cyp2c66 A T 19: 39,165,021 (GRCm39) H334L probably benign Het
Dab1 A G 4: 104,336,439 (GRCm39) K12E possibly damaging Het
Efcab3 A T 11: 104,709,463 (GRCm39) D1815V probably benign Het
Emsy T C 7: 98,304,037 (GRCm39) probably benign Het
Etv4 G T 11: 101,674,827 (GRCm39) D56E probably damaging Het
Exoc3l2 C T 7: 19,215,190 (GRCm39) R484* probably null Het
Extl1 A G 4: 134,098,603 (GRCm39) C143R probably benign Het
Fat3 T C 9: 16,286,563 (GRCm39) I987V possibly damaging Het
Fbn1 A C 2: 125,151,722 (GRCm39) C2511G probably damaging Het
Fer T A 17: 64,280,144 (GRCm39) S72T probably benign Het
Gdf2 A G 14: 33,666,797 (GRCm39) D173G probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Gria1 A T 11: 57,218,410 (GRCm39) M819L probably benign Het
Heatr6 A G 11: 83,656,679 (GRCm39) N314D probably benign Het
Hspd1 T C 1: 55,117,505 (GRCm39) D555G probably benign Het
Ighv3-4 T C 12: 114,217,649 (GRCm39) Y8C probably benign Het
Lcmt2 A G 2: 120,970,729 (GRCm39) V118A probably damaging Het
Lmf2 T C 15: 89,239,005 (GRCm39) E37G possibly damaging Het
Macf1 A G 4: 123,346,795 (GRCm39) L1161P probably damaging Het
Mbip T A 12: 56,377,054 (GRCm39) probably null Het
Mgam A T 6: 40,671,460 (GRCm39) probably null Het
Mmrn1 G A 6: 60,965,380 (GRCm39) S1136N probably damaging Het
Mms22l T C 4: 24,502,943 (GRCm39) V73A possibly damaging Het
Mtbp C T 15: 55,449,748 (GRCm39) L24F probably damaging Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 A G 14: 69,429,507 (GRCm39) N175S probably damaging Het
Nlrp4f A G 13: 65,342,145 (GRCm39) I500T possibly damaging Het
Or10a3 T A 7: 108,479,973 (GRCm39) Q280L possibly damaging Het
Or1e1f C T 11: 73,856,223 (GRCm39) S263L possibly damaging Het
Or6c33 A G 10: 129,853,445 (GRCm39) T72A probably damaging Het
Pcdha2 A G 18: 37,074,325 (GRCm39) D652G probably damaging Het
Pde6a T A 18: 61,354,018 (GRCm39) N114K probably damaging Het
Pdp2 A G 8: 105,320,913 (GRCm39) E254G probably benign Het
Pip5kl1 T C 2: 32,470,018 (GRCm39) V241A probably benign Het
Prkdc T A 16: 15,469,400 (GRCm39) D168E probably damaging Het
Psg27 A T 7: 18,296,015 (GRCm39) H143Q probably benign Het
Serpina16 T A 12: 103,638,796 (GRCm39) I264F probably benign Het
Slc25a41 G A 17: 57,348,582 (GRCm39) H4Y probably benign Het
Slco1a8 T G 6: 141,949,115 (GRCm39) H87P probably damaging Het
Smc3 T G 19: 53,617,142 (GRCm39) H518Q probably benign Het
Snrpb G T 2: 130,015,042 (GRCm39) T158K probably damaging Het
Sobp A G 10: 42,898,392 (GRCm39) F398L probably damaging Het
Spidr T A 16: 15,958,591 (GRCm39) Q57L probably benign Het
Srd5a3 T G 5: 76,297,648 (GRCm39) V26G possibly damaging Het
Stx17 A G 4: 48,166,972 (GRCm39) T131A probably benign Het
Susd1 A G 4: 59,332,985 (GRCm39) L553P possibly damaging Het
Tbc1d30 C A 10: 121,187,009 (GRCm39) G59C probably benign Het
Tekt1 T C 11: 72,242,850 (GRCm39) D219G possibly damaging Het
Trav9d-1 A T 14: 53,030,163 (GRCm39) D89V possibly damaging Het
Trim34b T C 7: 103,980,545 (GRCm39) I211T probably benign Het
Vmn1r25 A T 6: 57,955,531 (GRCm39) L253M possibly damaging Het
Vmn1r56 C T 7: 5,198,904 (GRCm39) V238M probably damaging Het
Wipf3 A G 6: 54,466,070 (GRCm39) I443V 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
R5031:Gsap UTSW 5 21,447,824 (GRCm39) missense possibly damaging 0.57
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
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'- GAAGTGTCTTGGGAGAGTCC -3'
(R):5'- CTGGGTGTGACATAGCAAGG -3'

Sequencing Primer
(F):5'- CCTGTGTTGTGGAGGGGTAC -3'
(R):5'- CAAGGAGGGCTGCTAATTTCTCC -3'
Posted On 2021-01-18