Incidental Mutation 'R5469:Gsap'
ID 433400
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5469 (G1)
Quality Score 195
Status Not validated
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21495542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 831 (Y831F)
Ref Sequence ENSEMBL: ENSMUSP00000043679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000115245] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198930] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000036031
AA Change: Y831F

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: Y831F

DomainStartEndE-ValueType
low complexity region 386 398 N/A INTRINSIC
Pfam:GSAP-16 646 753 6.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115245
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
coiled coil region 438 477 N/A INTRINSIC
coiled coil region 549 595 N/A INTRINSIC
coiled coil region 617 663 N/A INTRINSIC
coiled coil region 690 720 N/A INTRINSIC
coiled coil region 770 793 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195969
Predicted Effect probably benign
Transcript: ENSMUST00000198014
Predicted Effect possibly damaging
Transcript: ENSMUST00000198930
AA Change: Y70F

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000198937
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934

DomainStartEndE-ValueType
low complexity region 355 367 N/A INTRINSIC
Pfam:GSAP-16 608 722 1.6e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199553
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,605,305 (GRCm39) N331K probably benign Het
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Chst10 A T 1: 38,904,608 (GRCm39) Y362N probably damaging Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Pdcd10 T A 3: 75,428,364 (GRCm39) K150* probably null Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rad51ap1 C T 6: 126,905,190 (GRCm39) S107N probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc30a3 T A 5: 31,246,004 (GRCm39) D193V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Sstr5 A C 17: 25,711,043 (GRCm39) V62G probably damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L 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
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'- ACTGAAAGGGCCTTGAGGTG -3'
(R):5'- GACCTGTTCCCAATCTTAAAGAC -3'

Sequencing Primer
(F):5'- GCCTTGAGGTGTTTAAACCAAAGC -3'
(R):5'- CCTGTTCCCAATCTTAAAGACAGTGG -3'
Posted On 2016-10-06