Mutagenetix > Incidental Mutation

Incidental Mutation 'R1430:Psenen'

161479

Institutional Source

Beutler Lab

Gene Symbol

Psenen

Ensembl Gene

ENSMUSG00000036835

Gene Name

presenilin enhancer gamma secretase subunit

Synonyms

Pen2, 1700023M09Rik

MMRRC Submission

039486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1430 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

30261290-30263052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30261815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 34 (I34V)

Ref Sequence

ENSEMBL: ENSMUSP00000146469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043273] [ENSMUST00000043850] [ENSMUST00000043898] [ENSMUST00000043975] [ENSMUST00000108161] [ENSMUST00000108164] [ENSMUST00000163848] [ENSMUST00000163330] [ENSMUST00000163276] [ENSMUST00000163654] [ENSMUST00000164365] [ENSMUST00000163464] [ENSMUST00000163482] [ENSMUST00000156241] [ENSMUST00000207797] [ENSMUST00000207747] [ENSMUST00000167202] [ENSMUST00000166960] [ENSMUST00000207031] [ENSMUST00000167361] [ENSMUST00000166510] [ENSMUST00000168229] [ENSMUST00000168333] [ENSMUST00000167042] [ENSMUST00000166257] [ENSMUST00000171912] [ENSMUST00000171850] [ENSMUST00000167501] [ENSMUST00000172251] [ENSMUST00000168555] [ENSMUST00000168931] [ENSMUST00000208628]

AlphaFold

Q9CQR7

Predicted Effect

probably benign
Transcript: ENSMUST00000043273

SMART Domains

Protein: ENSMUSP00000039406
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	175	2.49e-1	SMART
low complexity region	187	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043850

SMART Domains

Protein: ENSMUSP00000042312
Gene: ENSMUSG00000036826

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	166	188	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043898
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044682
Gene: ENSMUSG00000036835
AA Change: I34V

Domain	Start	End	E-Value	Type
Pfam:PEN-2	7	99	2.9e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043975

SMART Domains

Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	84	240	5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108161

SMART Domains

Protein: ENSMUSP00000103796
Gene: ENSMUSG00000109378

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	13	39	8.8e-10	PFAM
SCOP:d1jmta_	43	115	2e-17	SMART
PDB:1JMT\|A	43	116	3e-40	PDB
Blast:RRM	45	116	2e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108164

SMART Domains

Protein: ENSMUSP00000103799
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	58	229	1.4e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163994

Predicted Effect

probably benign
Transcript: ENSMUST00000163848

Predicted Effect

probably benign
Transcript: ENSMUST00000163330

SMART Domains

Protein: ENSMUSP00000129385
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
RRM	39	116	5.99e-4	SMART
Pfam:zf-CCCH	122	148	4.9e-8	PFAM
low complexity region	160	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163276

Predicted Effect

probably benign
Transcript: ENSMUST00000163654

SMART Domains

Protein: ENSMUSP00000131048
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	13	39	1.3e-9	PFAM
RRM	66	143	5.99e-4	SMART
low complexity region	167	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164365

Predicted Effect

probably benign
Transcript: ENSMUST00000165722

SMART Domains

Protein: ENSMUSP00000125790
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	1	26	4.7e-10	PFAM
PDB:1JMT\|A	30	51	2e-6	PDB
SCOP:d1jmta_	30	51	5e-3	SMART
Blast:RRM	32	53	7e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163464

SMART Domains

Protein: ENSMUSP00000125959
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	171	3.95e1	SMART
low complexity region	183	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163482

SMART Domains

Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
low complexity region	34	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156241

SMART Domains

Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	80	202	7.5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207797
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207747
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169962

Predicted Effect

probably benign
Transcript: ENSMUST00000167202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168222

Predicted Effect

probably benign
Transcript: ENSMUST00000166960

Predicted Effect

probably benign
Transcript: ENSMUST00000207031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167024

Predicted Effect

probably benign
Transcript: ENSMUST00000167361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165773

Predicted Effect

probably benign
Transcript: ENSMUST00000166510

SMART Domains

Protein: ENSMUSP00000132316
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	45	133	2.51e-6	SMART
ZnF_C3H1	139	165	2.49e-1	SMART
low complexity region	177	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168229

Predicted Effect

probably benign
Transcript: ENSMUST00000168333

SMART Domains

Protein: ENSMUSP00000128950
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	13	39	4.8e-10	PFAM
PDB:1JMT\|A	43	94	5e-21	PDB
SCOP:d1jmta_	43	94	2e-9	SMART
Blast:RRM	45	94	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167042

SMART Domains

Protein: ENSMUSP00000128886
Gene: ENSMUSG00000109378

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	175	2.49e-1	SMART
low complexity region	187	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166257

SMART Domains

Protein: ENSMUSP00000125838
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	33	104	2.35e-2	SMART
ZnF_C3H1	110	136	2.49e-1	SMART
low complexity region	148	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171912

SMART Domains

Protein: ENSMUSP00000130983
Gene: ENSMUSG00000109378

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	175	2.49e-1	SMART
low complexity region	187	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171850

SMART Domains

Protein: ENSMUSP00000131781
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
PDB:1JMT\|A	43	113	1e-16	PDB
SCOP:d1jmta_	43	113	1e-9	SMART
Blast:RRM	45	110	3e-17	BLAST
ZnF_C3H1	116	142	2.49e-1	SMART
low complexity region	154	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167501

Predicted Effect

probably benign
Transcript: ENSMUST00000172251

SMART Domains

Protein: ENSMUSP00000132400
Gene: ENSMUSG00000036826

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
low complexity region	267	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168555

Predicted Effect

probably benign
Transcript: ENSMUST00000168931

SMART Domains

Protein: ENSMUSP00000129697
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
RRM	44	119	4.14e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208628
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209110

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Aoc2	A	G	11: 101,217,321 (GRCm39)	Y468C	probably damaging	Het
Cdyl2	A	G	8: 117,306,056 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,030,436 (GRCm39)		probably benign	Het
Cyp2j9	G	T	4: 96,472,201 (GRCm39)		probably benign	Het
Dapk1	T	G	13: 60,901,957 (GRCm39)	F929V	probably benign	Het
Dhx9	A	T	1: 153,359,493 (GRCm39)	M35K	probably benign	Het
Dnah5	G	A	15: 28,346,003 (GRCm39)	E2448K	probably benign	Het
Doc2b	A	T	11: 75,670,981 (GRCm39)	C217S	possibly damaging	Het
Dock11	A	G	X: 35,333,565 (GRCm39)	I2010V	probably benign	Het
Dram1	T	C	10: 88,160,641 (GRCm39)	T227A	possibly damaging	Het
Eppin	G	A	2: 164,431,323 (GRCm39)	T101M	probably damaging	Het
F13a1	T	C	13: 37,082,105 (GRCm39)	D533G	probably damaging	Het
Fmo1	C	A	1: 162,667,293 (GRCm39)	R174L	probably damaging	Het
Fsip2	C	A	2: 82,828,407 (GRCm39)	L6735I	possibly damaging	Het
Gab1	G	T	8: 81,515,241 (GRCm39)	T359K	probably benign	Het
Ggta1	T	C	2: 35,298,029 (GRCm39)	D118G	possibly damaging	Het
Gramd1a	A	G	7: 30,832,211 (GRCm39)	S609P	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrrc24	G	T	15: 76,607,992 (GRCm39)		probably null	Het
Mak	C	A	13: 41,223,760 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,063,768 (GRCm39)	R2708Q	possibly damaging	Het
Mettl24	T	C	10: 40,613,791 (GRCm39)	C177R	probably damaging	Het
Mgam	G	C	6: 40,733,305 (GRCm39)	E812D	probably benign	Het
Mroh8	T	C	2: 157,111,445 (GRCm39)	R170G	possibly damaging	Het
Msn	G	A	X: 95,196,325 (GRCm39)	V130I	probably benign	Het
Ncoa4	G	A	14: 31,898,679 (GRCm39)	V500I	probably benign	Het
Or2aj5	A	G	16: 19,424,752 (GRCm39)	L222P	probably damaging	Het
Or2y1b	A	G	11: 49,208,928 (GRCm39)		probably null	Het
Or5an6	C	T	19: 12,371,801 (GRCm39)	T58I	probably benign	Het
Or8k3b	T	C	2: 86,520,866 (GRCm39)	Y151C	possibly damaging	Het
Ppm1h	T	C	10: 122,693,004 (GRCm39)	S302P	probably damaging	Het
Prkce	T	A	17: 86,866,565 (GRCm39)		probably benign	Het
Rbl1	T	C	2: 157,011,826 (GRCm39)	T710A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc1a5	A	G	7: 16,516,328 (GRCm39)	D168G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Syce1	A	T	7: 140,359,351 (GRCm39)		probably benign	Het
Tbc1d23	G	T	16: 57,034,573 (GRCm39)	D75E	probably damaging	Het
Tbk1	A	G	10: 121,395,839 (GRCm39)	V418A	probably benign	Het
Tmem132e	T	C	11: 82,329,122 (GRCm39)	V467A	probably damaging	Het
Tmem241	T	C	18: 12,126,651 (GRCm39)	D144G	probably benign	Het
Tsc2	A	G	17: 24,817,997 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,617 (GRCm39)	F420I	probably benign	Het
Usp34	A	G	11: 23,409,151 (GRCm39)	T2645A	probably damaging	Het
Utp14b	A	G	1: 78,644,111 (GRCm39)	K670E	probably benign	Het
Zfp407	C	T	18: 84,227,580 (GRCm39)	V2010M	probably benign	Het
Zfp879	A	G	11: 50,724,784 (GRCm39)	F91L	probably benign	Het
Zfyve26	A	G	12: 79,329,591 (GRCm39)	S532P	probably benign	Het

Other mutations in Psenen

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1013:Psenen	UTSW	7	30,261,802 (GRCm39)	missense	possibly damaging	0.79
R6572:Psenen	UTSW	7	30,261,773 (GRCm39)	missense	probably benign	0.00
R6994:Psenen	UTSW	7	30,262,932 (GRCm39)	critical splice donor site	probably null
R7985:Psenen	UTSW	7	30,261,503 (GRCm39)	missense	probably benign	0.00
X0065:Psenen	UTSW	7	30,262,272 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCCCGTTCATCTCTGACACAG -3'
(R):5'- AATCACAGTCCCAATGAGCAGGAAG -3'

Sequencing Primer
(F):5'- GTTCATCTCTGACACAGATCTCC -3'
(R):5'- GGAGACAGTCCTTAGATTAGAGC -3'

Posted On

2014-03-14