Mutagenetix > Incidental Mutation

Incidental Mutation 'R4847:Psen2'

373284

Institutional Source

Beutler Lab

Gene Symbol

Psen2

Ensembl Gene

ENSMUSG00000010609

Gene Name

presenilin 2

Synonyms

Ad4h, PS-2, ALG-3, PS2

MMRRC Submission

042460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180054569-180091003 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 180073197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120216 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000010753

SMART Domains

Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609

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

Predicted Effect

probably null
Transcript: ENSMUST00000111104

SMART Domains

Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609

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

Predicted Effect

probably null
Transcript: ENSMUST00000111105

SMART Domains

Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609

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

Predicted Effect

probably null
Transcript: ENSMUST00000111106

SMART Domains

Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609

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

Predicted Effect

probably null
Transcript: ENSMUST00000111108

SMART Domains

Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609

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

Predicted Effect

probably null
Transcript: ENSMUST00000133340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149590

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	C	T	11: 80,264,940 (GRCm39)	V171M	probably damaging	Het
Abhd3	A	G	18: 10,647,786 (GRCm39)	S328P	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aldh1b1	G	T	4: 45,802,625 (GRCm39)	K54N	possibly damaging	Het
Amacr	C	T	15: 10,994,958 (GRCm39)	Q257*	probably null	Het
Ankrd12	A	T	17: 66,331,087 (GRCm39)	D309E	probably benign	Het
Anks6	T	C	4: 47,033,266 (GRCm39)	T600A	probably benign	Het
Ap3b1	A	G	13: 94,608,287 (GRCm39)	E586G	probably benign	Het
Atad2b	A	G	12: 4,994,901 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,300,936 (GRCm39)	Q240*	probably null	Het
Cep152	T	C	2: 125,460,394 (GRCm39)	Y186C	possibly damaging	Het
Cep76	C	A	18: 67,752,639 (GRCm39)	R603I	probably benign	Het
Chad	T	C	11: 94,459,153 (GRCm39)	S352P	probably benign	Het
Ckap2	T	C	8: 22,665,084 (GRCm39)	E460G	probably damaging	Het
Col22a1	T	C	15: 71,671,348 (GRCm39)	Y1004C	unknown	Het
Col9a3	G	A	2: 180,257,318 (GRCm39)	G480S	probably damaging	Het
Cpsf2	A	G	12: 101,963,561 (GRCm39)	D430G	probably benign	Het
Cramp1	T	C	17: 25,204,063 (GRCm39)	D305G	probably damaging	Het
Ctnnd1	C	A	2: 84,452,396 (GRCm39)	E76*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c39	A	T	19: 39,549,340 (GRCm39)	N286I	probably damaging	Het
Ddx11	A	G	17: 66,437,796 (GRCm39)	E174G	probably damaging	Het
Ddx19a	T	C	8: 111,703,677 (GRCm39)	E369G	probably damaging	Het
Dnai7	T	A	6: 145,120,911 (GRCm39)	H636L	probably damaging	Het
Epha1	T	A	6: 42,338,848 (GRCm39)	D687V	possibly damaging	Het
Fgr	T	C	4: 132,721,959 (GRCm39)	W132R	probably damaging	Het
Fras1	A	T	5: 96,692,851 (GRCm39)	D170V	possibly damaging	Het
Gas2l1	A	G	11: 5,014,173 (GRCm39)	S96P	probably damaging	Het
Gfy	G	A	7: 44,827,020 (GRCm39)	P359S	probably damaging	Het
Hexim2	A	G	11: 103,029,767 (GRCm39)	N273S	probably benign	Het
Hr	A	T	14: 70,793,916 (GRCm39)	T59S	probably benign	Het
Ift70a2	A	T	2: 75,808,058 (GRCm39)	N151K	probably benign	Het
Impdh2	A	G	9: 108,441,870 (GRCm39)	Y166C	probably damaging	Het
Impdh2	T	A	9: 108,442,714 (GRCm39)	F514Y	probably benign	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Klhl17	A	T	4: 156,316,054 (GRCm39)	H433Q	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	A	C	5: 123,940,337 (GRCm39)	N1645T	probably benign	Het
Mcm8	A	G	2: 132,661,923 (GRCm39)	I114V	probably benign	Het
Mink1	T	A	11: 70,492,854 (GRCm39)	L160Q	probably damaging	Het
Mipol1	A	T	12: 57,350,282 (GRCm39)	S27C	probably damaging	Het
Mthfr	T	C	4: 148,132,596 (GRCm39)	V217A	probably damaging	Het
Or5b105	A	G	19: 13,079,898 (GRCm39)	Y257H	probably damaging	Het
Or5p53	T	A	7: 107,533,034 (GRCm39)	C102*	probably null	Het
Pde1c	T	C	6: 56,100,019 (GRCm39)	K614E	possibly damaging	Het
Pds5b	A	T	5: 150,671,577 (GRCm39)	E407V	probably damaging	Het
Pdzph1	A	G	17: 59,280,525 (GRCm39)	S586P	possibly damaging	Het
Prkcb	C	T	7: 122,167,372 (GRCm39)	R361W	probably benign	Het
Ptk2	T	A	15: 73,103,805 (GRCm39)	M82L	probably benign	Het
Ptk2b	T	C	14: 66,411,331 (GRCm39)	D400G	probably damaging	Het
Samd8	G	A	14: 21,842,503 (GRCm39)	R275Q	possibly damaging	Het
Senp2	A	G	16: 21,857,386 (GRCm39)	T403A	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Skap2	T	A	6: 51,980,649 (GRCm39)	I52L	probably benign	Het
Slc5a7	T	C	17: 54,584,168 (GRCm39)	D374G	possibly damaging	Het
Slmap	A	T	14: 26,147,763 (GRCm39)	L699M	possibly damaging	Het
Sntg1	A	C	1: 8,665,706 (GRCm39)	C203G	possibly damaging	Het
Stard9	T	C	2: 120,533,594 (GRCm39)	S3284P	probably benign	Het
Tbx21	T	C	11: 97,005,857 (GRCm39)	Y36C	probably damaging	Het
Tecpr2	A	G	12: 110,906,311 (GRCm39)	Y971C	probably damaging	Het
Trpm5	T	A	7: 142,641,500 (GRCm39)	I137F	possibly damaging	Het
Unk	A	G	11: 115,945,232 (GRCm39)	K426E	probably damaging	Het
Zc3hc1	T	C	6: 30,375,981 (GRCm39)	D193G	probably benign	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
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
R8213:Psen2	UTSW	1	180,073,256 (GRCm39)	missense	probably benign	0.00
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'- ACTTGCAGATGAAACGGCC -3'
(R):5'- GTGTTCAAGCCACTAAACCATC -3'

Sequencing Primer
(F):5'- GGTTCTAAGGACATCTCAGTCACAG -3'
(R):5'- ATCCCCCATGTCCCCACTG -3'

Posted On

2016-03-01