Mutagenetix > Incidental Mutation

Incidental Mutation 'R8916:Psen2'

678914

Institutional Source

Beutler Lab

Gene Symbol

Psen2

Ensembl Gene

ENSMUSG00000010609

Gene Name

presenilin 2

Synonyms

Ad4h, PS-2, ALG-3, PS2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180054569-180091003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180063495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 183 (F183L)

Ref Sequence

ENSEMBL: ENSMUSP00000010753 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000010753
AA Change: F183L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: F183L

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: F183L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: F183L

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: F183L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: F183L

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: F183L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: F183L

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: F183L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: F183L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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
Adamts16	A	G	13: 70,941,307 (GRCm39)	L360S	probably damaging	Het
AW554918	T	C	18: 25,423,049 (GRCm39)	Y167H	probably damaging	Het
Cdh18	A	T	15: 23,410,813 (GRCm39)	I433F	probably damaging	Het
Cenpj	A	T	14: 56,790,352 (GRCm39)	F566I	probably damaging	Het
Cntn4	T	A	6: 106,652,915 (GRCm39)	Y795N	probably damaging	Het
Col4a4	C	T	1: 82,501,667 (GRCm39)	G362E	unknown	Het
Crebrf	A	G	17: 26,958,583 (GRCm39)	T18A	probably damaging	Het
D130043K22Rik	G	A	13: 25,056,254 (GRCm39)	V529I	probably benign	Het
Dars2	T	C	1: 160,881,552 (GRCm39)	T326A	probably benign	Het
Eif4e	T	C	3: 138,256,043 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,733,722 (GRCm39)	M413V	possibly damaging	Het
Fbn1	T	C	2: 125,245,149 (GRCm39)	D246G	possibly damaging	Het
Foxred2	A	G	15: 77,837,514 (GRCm39)	S241P	probably damaging	Het
Fras1	T	C	5: 96,900,774 (GRCm39)	F2998L	probably damaging	Het
Garin4	A	G	1: 190,895,857 (GRCm39)	I262T	probably benign	Het
Grb10	T	C	11: 11,901,599 (GRCm39)	T192A	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hinfp	A	T	9: 44,209,673 (GRCm39)	F234I	probably damaging	Het
Hmcn1	A	T	1: 150,649,530 (GRCm39)	I652N	probably damaging	Het
Kif24	T	C	4: 41,394,963 (GRCm39)	K771E	probably benign	Het
Lhcgr	A	G	17: 89,061,170 (GRCm39)		probably null	Het
Lnpk	A	T	2: 74,358,486 (GRCm39)	S358T	probably benign	Het
Lpcat2	A	T	8: 93,596,316 (GRCm39)	M118L	probably benign	Het
Lypd1	T	A	1: 125,801,120 (GRCm39)	T127S	unknown	Het
Mettl23	C	T	11: 116,740,111 (GRCm39)	T194I	probably damaging	Het
Mga	T	C	2: 119,788,819 (GRCm39)	V2227A	possibly damaging	Het
Mus81	A	T	19: 5,534,214 (GRCm39)	V368E	probably damaging	Het
Myo3a	T	A	2: 22,457,704 (GRCm39)	F1046I	probably damaging	Het
Nfia	G	A	4: 97,888,667 (GRCm39)	V222I	probably benign	Het
Niban2	T	A	2: 32,811,106 (GRCm39)	M372K	possibly damaging	Het
Nop9	A	G	14: 55,991,101 (GRCm39)	E586G	probably benign	Het
Nr2e1	G	A	10: 42,443,864 (GRCm39)	A286V	possibly damaging	Het
Nup153	G	A	13: 46,863,462 (GRCm39)	Q300*	probably null	Het
Plaat1	A	G	16: 29,039,259 (GRCm39)	D113G	possibly damaging	Het
Pnp2	T	C	14: 51,201,234 (GRCm39)	L202P	probably damaging	Het
Prss3b	T	A	6: 41,010,103 (GRCm39)	H77L	probably damaging	Het
Rint1	G	T	5: 23,992,826 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,608,635 (GRCm39)	R2335L	probably damaging	Het
Scn1a	T	C	2: 66,108,127 (GRCm39)	D1544G	probably damaging	Het
Sec31b	A	C	19: 44,520,783 (GRCm39)	S175A		Het
Sgcg	A	G	14: 61,474,341 (GRCm39)	S101P	probably damaging	Het
Shb	A	T	4: 45,489,154 (GRCm39)	S241T	probably damaging	Het
Slc47a2	A	T	11: 61,193,118 (GRCm39)	L545Q	probably damaging	Het
Spata31g1	C	A	4: 42,973,034 (GRCm39)	P789H	probably damaging	Het
Spef2	C	A	15: 9,725,266 (GRCm39)	E164*	probably null	Het
Sphkap	A	T	1: 83,255,108 (GRCm39)	N880K	possibly damaging	Het
Taf2	A	G	15: 54,899,931 (GRCm39)	V894A	probably benign	Het
Tgfa	T	G	6: 86,248,436 (GRCm39)	L146R	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tlr4	G	A	4: 66,847,268 (GRCm39)	V132I	probably benign	Het
Tsen34	C	T	7: 3,697,340 (GRCm39)		probably benign	Het
Ttc13	T	G	8: 125,409,976 (GRCm39)	K412T	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r195	A	G	13: 22,463,139 (GRCm39)	Y203C	probably damaging	Het
Vmn2r65	T	A	7: 84,595,665 (GRCm39)	T340S	probably benign	Het
Vmn2r88	T	A	14: 51,648,593 (GRCm39)	C46S		Het
Ythdf2	A	T	4: 131,931,830 (GRCm39)	D443E	probably damaging	Het
Zeb2	T	C	2: 44,886,796 (GRCm39)	R754G	probably damaging	Het
Zfp236	T	A	18: 82,664,351 (GRCm39)	E478V	probably damaging	Het
Zfp287	A	T	11: 62,605,136 (GRCm39)	Y590*	probably null	Het
Zfp9	A	T	6: 118,442,223 (GRCm39)	C146*	probably null	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
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
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'- TGAGAAGGCTTCACCAGTCC -3'
(R):5'- TGGGGTCCATCATTTCAATCC -3'

Sequencing Primer
(F):5'- AAGGCTTCACCAGTCCAGCTTC -3'
(R):5'- GGGGTCCATCATTTCAATCCTTTGG -3'

Posted On

2021-08-02