Mutagenetix > Incidental Mutation

Incidental Mutation 'R0110:Psen2'

20345

Institutional Source

Beutler Lab

Gene Symbol

Psen2

Ensembl Gene

ENSMUSG00000010609

Gene Name

presenilin 2

Synonyms

Ad4h, PS-2, ALG-3, PS2

MMRRC Submission

038396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0110 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

180054569-180091003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180066479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 153 (T153A)

Ref Sequence

ENSEMBL: ENSMUSP00000106737 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000010753
AA Change: T153A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: T153A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111104
AA Change: T153A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: T153A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111105
AA Change: T153A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: T153A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111106
AA Change: T153A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: T153A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111108
AA Change: T153A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: T153A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149590

Meta Mutation Damage Score

0.9508

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,320 (GRCm39)		probably benign	Het
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	C	A	1: 44,098,384 (GRCm39)	V905F	probably benign	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cntln	C	T	4: 85,014,994 (GRCm39)	T1095I	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Dock4	A	G	12: 40,671,311 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam227b	T	A	2: 125,942,841 (GRCm39)	S319C	probably damaging	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 93,937,219 (GRCm39)	P388L	probably benign	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gmip	C	T	8: 70,268,259 (GRCm39)		probably benign	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hadhb	T	C	5: 30,374,483 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpa	A	T	2: 130,521,338 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,347,758 (GRCm39)	T605A	probably benign	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lap3	T	C	5: 45,652,632 (GRCm39)		probably benign	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map3k6	T	C	4: 132,971,105 (GRCm39)	L273P	probably damaging	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mrc1	T	A	2: 14,243,353 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtcl1	C	T	17: 66,665,109 (GRCm39)	E1149K	possibly damaging	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Ncapg	T	C	5: 45,850,489 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,628,225 (GRCm39)		probably benign	Het
Proc	G	A	18: 32,258,171 (GRCm39)	T258I	probably benign	Het
Prom2	T	G	2: 127,373,033 (GRCm39)	S679R	possibly damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,609,998 (GRCm39)		probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpp2	A	G	1: 44,038,853 (GRCm39)	D1133G	probably damaging	Het
Tpp2	T	A	1: 44,017,664 (GRCm39)	V756E	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,247,548 (GRCm39)	V148A	probably damaging	Het
Ttn	T	A	2: 76,694,672 (GRCm39)		probably benign	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,154,619 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp423	A	G	8: 88,508,887 (GRCm39)	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	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
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
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'- AAGTCAGCACTTGGTCATCGTCC -3'
(R):5'- CCAGCCAGTGCAAAGGTTCTAACAG -3'

Sequencing Primer
(F):5'- GCACAAAGAGGCAATCTATTCTG -3'
(R):5'- TTCTAACAGAGCAGCGTGG -3'

Posted On

2013-04-11