Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Psen2'

636234

Institutional Source

Beutler Lab

Gene Symbol

Psen2

Ensembl Gene

ENSMUSG00000010609

Gene Name

presenilin 2

Synonyms

Ad4h, PS-2, ALG-3, PS2

MMRRC Submission

067655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180054569-180091003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 180073256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 22 (S22A)

Ref Sequence

ENSEMBL: ENSMUSP00000010753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010753] [ENSMUST00000111104] [ENSMUST00000111105] [ENSMUST00000111106] [ENSMUST00000111108] [ENSMUST00000133340]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000010753
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: S22A

Domain	Start	End	E-Value	Type
Blast:PSN	81	119	8e-15	BLAST
PSN	136	434	1.81e-138	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111104
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: S22A

Domain	Start	End	E-Value	Type
Blast:PSN	81	119	8e-15	BLAST
PSN	136	433	3.63e-138	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111105
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: S22A

Domain	Start	End	E-Value	Type
Blast:PSN	81	119	8e-15	BLAST
PSN	136	434	1.81e-138	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111106
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: S22A

Domain	Start	End	E-Value	Type
Blast:PSN	81	119	8e-15	BLAST
PSN	136	434	1.81e-138	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111108
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: S22A

Domain	Start	End	E-Value	Type
Blast:PSN	81	119	8e-15	BLAST
PSN	136	434	1.81e-138	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133340
AA Change: S22A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.1158

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: This gene encodes a member of the presenilin family. Presenilins are catalytic components of the multi-subunit gamma-secretase complex, which mediates critical cellular processes through cleavage of type I transmembrane proteins including Notch receptors and the amyloid precursor protein. The encoded protein contains eight transmembrane domains and is localized to the endoplasmic reticulum, where it may play a role in calcium homeostasis. Following assembly of the gamma-secretase complex, the encoded protein is cleaved into N- and C-terminal fragments and the activated complex is released from the endoplasmic reticulum. Inactivation of this gene results in impaired synaptic function in a mouse model for Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Acss1	T	A	2: 150,461,630 (GRCm39)	D651V	possibly damaging	Het
Aktip	G	T	8: 91,851,494 (GRCm39)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,548,714 (GRCm39)	S175A	probably benign	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,844,190 (GRCm39)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,727,857 (GRCm39)		probably null	Het
Ccdc7b	C	A	8: 129,904,772 (GRCm39)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,724,338 (GRCm39)	E319K	unknown	Het
Chka	A	C	19: 3,935,882 (GRCm39)	E196A	probably damaging	Het
Depdc5	C	T	5: 33,094,981 (GRCm39)	R753C	probably damaging	Het
Dhx57	T	A	17: 80,582,585 (GRCm39)	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,668,952 (GRCm39)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,253,916 (GRCm39)	L164M	probably benign	Het
Dock6	A	G	9: 21,742,740 (GRCm39)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,006,897 (GRCm39)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm39)	S226T	probably benign	Het
Fgd6	A	T	10: 93,879,914 (GRCm39)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm39)	Y218*	probably null	Het
Filip1	C	A	9: 79,725,374 (GRCm39)	A1082S	probably benign	Het
Heatr5a	G	A	12: 51,938,226 (GRCm39)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,358,170 (GRCm39)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Igsf5	A	T	16: 96,174,188 (GRCm39)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,449,995 (GRCm39)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm39)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm39)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,456,368 (GRCm39)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,335,547 (GRCm39)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,267,855 (GRCm39)	E40D	probably benign	Het
Nhsl3	A	T	4: 129,115,252 (GRCm39)	V1070D	possibly damaging	Het
Npat	G	T	9: 53,481,870 (GRCm39)	E1193*	probably null	Het
Nrde2	G	A	12: 100,097,262 (GRCm39)	S846L	probably benign	Het
Nup205	T	C	6: 35,202,138 (GRCm39)	V1290A	probably benign	Het
Or10a49	C	A	7: 108,467,726 (GRCm39)	V212L	probably benign	Het
Or4d10b	A	G	19: 12,036,456 (GRCm39)	V220A	probably benign	Het
Or5g9	T	A	2: 85,551,845 (GRCm39)	L32Q	probably null	Het
Pde6a	A	T	18: 61,353,768 (GRCm39)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,851,589 (GRCm39)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,775,621 (GRCm39)	L30Q	probably damaging	Het
Pramel22	T	A	4: 143,380,755 (GRCm39)	M423L	probably benign	Het
Pramel30	A	T	4: 144,057,030 (GRCm39)	D71V	probably benign	Het
Prdm15	T	A	16: 97,608,260 (GRCm39)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,207,369 (GRCm39)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,328 (GRCm39)	T601M	possibly damaging	Het
Ralgapa1	C	A	12: 55,769,699 (GRCm39)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 31,908,833 (GRCm39)	E89G	probably damaging	Het
Serpina10	T	C	12: 103,594,536 (GRCm39)	I228V	probably benign	Het
Serpinb1a	T	A	13: 33,026,982 (GRCm39)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,225,364 (GRCm39)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,398,877 (GRCm39)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,193,151 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,669,137 (GRCm39)	M39V	probably benign	Het
Tgm7	A	G	2: 120,931,545 (GRCm39)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,897,094 (GRCm39)		probably null	Het
Trpv1	T	C	11: 73,145,077 (GRCm39)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,120,691 (GRCm39)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,283,695 (GRCm39)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,690,350 (GRCm39)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,168,020 (GRCm39)	A603V	probably benign	Het
Xirp2	T	A	2: 67,307,210 (GRCm39)	N19K	probably damaging	Het
Zfp397	T	A	18: 24,093,779 (GRCm39)	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Psen2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Psen2	APN	1	180,062,548 (GRCm39)	splice site	probably benign
IGL01805:Psen2	APN	1	180,057,403 (GRCm39)	splice site	probably null
IGL02126:Psen2	APN	1	180,057,488 (GRCm39)	missense	probably benign	0.25
IGL02481:Psen2	APN	1	180,062,626 (GRCm39)	missense	probably damaging	0.97
IGL02483:Psen2	APN	1	180,062,626 (GRCm39)	missense	probably damaging	0.97
IGL02524:Psen2	APN	1	180,073,232 (GRCm39)	missense	probably benign	0.00
IGL02864:Psen2	APN	1	180,073,268 (GRCm39)	missense	probably benign	0.05
IGL03139:Psen2	APN	1	180,068,350 (GRCm39)	missense	probably damaging	1.00
IGL03237:Psen2	APN	1	180,068,414 (GRCm39)	missense	possibly damaging	0.67
R0110:Psen2	UTSW	1	180,066,479 (GRCm39)	missense	probably damaging	1.00
R0365:Psen2	UTSW	1	180,056,410 (GRCm39)	missense	probably damaging	0.99
R0469:Psen2	UTSW	1	180,066,479 (GRCm39)	missense	probably damaging	1.00
R1495:Psen2	UTSW	1	180,056,419 (GRCm39)	missense	probably damaging	1.00
R1621:Psen2	UTSW	1	180,057,030 (GRCm39)	missense	probably benign
R2151:Psen2	UTSW	1	180,061,229 (GRCm39)	missense	probably damaging	1.00
R4394:Psen2	UTSW	1	180,068,347 (GRCm39)	missense	probably damaging	1.00
R4702:Psen2	UTSW	1	180,055,289 (GRCm39)	missense	probably damaging	1.00
R4847:Psen2	UTSW	1	180,073,197 (GRCm39)	splice site	probably null
R5070:Psen2	UTSW	1	180,056,422 (GRCm39)	missense	probably benign
R5735:Psen2	UTSW	1	180,068,491 (GRCm39)	missense	probably benign	0.00
R6001:Psen2	UTSW	1	180,073,234 (GRCm39)	missense	possibly damaging	0.52
R6041:Psen2	UTSW	1	180,073,292 (GRCm39)	nonsense	probably null
R7033:Psen2	UTSW	1	180,055,085 (GRCm39)	splice site	probably null
R7291:Psen2	UTSW	1	180,066,521 (GRCm39)	missense	probably benign	0.23
R8103:Psen2	UTSW	1	180,068,356 (GRCm39)	missense	probably damaging	1.00
R8766:Psen2	UTSW	1	180,073,201 (GRCm39)	missense	probably benign	0.01
R8916:Psen2	UTSW	1	180,063,495 (GRCm39)	missense	probably benign	0.10
R9027:Psen2	UTSW	1	180,056,972 (GRCm39)	nonsense	probably null
R9794:Psen2	UTSW	1	180,068,294 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AATTCAACTTGCAGATGAAACGGC -3'
(R):5'- TTTGACTTGTATGTAGAAAGCTTGT -3'

Sequencing Primer
(F):5'- GGAGAGGACATTCCCTTATGATCTC -3'
(R):5'- TAGAAAGCTTGTTATAGGCAAGACC -3'

Posted On

2020-07-13