Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Psen1'

61138

Institutional Source

Beutler Lab

Gene Symbol

Psen1

Ensembl Gene

ENSMUSG00000019969

Gene Name

presenilin 1

Synonyms

PS1, PS-1, S182, presenilin-1, Ad3h

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0685 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

83688152-83735199 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 83714820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 132 (S132*)

Ref Sequence

ENSEMBL: ENSMUSP00000098786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041806] [ENSMUST00000101225]

AlphaFold

P49769

Predicted Effect

probably null
Transcript: ENSMUST00000041806
AA Change: S132*

SMART Domains

Protein: ENSMUSP00000048363
Gene: ENSMUSG00000019969
AA Change: S132*

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
Blast:PSN	75	113	1e-12	BLAST
PSN	130	453	2.03e-150	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000101225
AA Change: S132*

SMART Domains

Protein: ENSMUSP00000098786
Gene: ENSMUSG00000019969
AA Change: S132*

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
Blast:PSN	75	113	1e-12	BLAST
PSN	130	453	2.03e-150	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223542

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Hectd2	T	A	19: 36,569,431	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Lin37	T	C	7: 30,555,874	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Rnf6	A	C	5: 146,211,658	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814		probably benign	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	probably damaging	Het

Other mutations in Psen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Psen1	APN	12	83730569	missense	probably benign	0.01
IGL00793:Psen1	APN	12	83723018	missense	probably damaging	0.98
IGL03171:Psen1	APN	12	83714864	missense	probably damaging	1.00
hiortron	UTSW	12	83724665	missense	probably damaging	1.00
R1394:Psen1	UTSW	12	83724572	missense	probably damaging	1.00
R1395:Psen1	UTSW	12	83724572	missense	probably damaging	1.00
R1681:Psen1	UTSW	12	83724620	missense	probably damaging	1.00
R2257:Psen1	UTSW	12	83714820	missense	probably damaging	1.00
R4833:Psen1	UTSW	12	83731778	missense	probably benign	0.23
R5077:Psen1	UTSW	12	83724665	missense	probably damaging	1.00
R5170:Psen1	UTSW	12	83714862	missense	probably damaging	1.00
R5782:Psen1	UTSW	12	83712459	missense	possibly damaging	0.54
R5804:Psen1	UTSW	12	83731700	missense	probably damaging	1.00
R7458:Psen1	UTSW	12	83714766	missense	probably damaging	1.00
R7494:Psen1	UTSW	12	83728243	missense	probably benign	0.19
R7797:Psen1	UTSW	12	83699622	missense	probably benign	0.02
R8547:Psen1	UTSW	12	83714856	missense	possibly damaging	0.68
R9286:Psen1	UTSW	12	83728775	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACTGATGACCTGCAAAAGGCAC -3'
(R):5'- AGTCTTTGGAATGCCATAGGCACAC -3'

Sequencing Primer
(F):5'- TGCAAAAGGCACCTTCTAAAAG -3'
(R):5'- gcacacgcacactctgac -3'

Posted On

2013-07-30