Incidental Mutation 'R6375:Aplp2'
| ID |
514921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aplp2
|
| Ensembl Gene |
ENSMUSG00000031996 |
| Gene Name |
amyloid beta precursor-like protein 2 |
| Synonyms |
|
| MMRRC Submission |
044525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
31060853-31123111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31069084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 526
(N526D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072634]
[ENSMUST00000079758]
[ENSMUST00000213254]
[ENSMUST00000217641]
|
| AlphaFold |
Q06335 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072634
AA Change: N582D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: N582D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
A4_EXTRA
|
42 |
204 |
7.91e-123 |
SMART |
|
low complexity region
|
218 |
232 |
N/A |
INTRINSIC |
|
coiled coil region
|
242 |
269 |
N/A |
INTRINSIC |
|
KU
|
308 |
361 |
3.52e-24 |
SMART |
|
Pfam:APP_E2
|
365 |
547 |
1.6e-71 |
PFAM |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
Pfam:APP_amyloid
|
697 |
747 |
1.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079758
AA Change: N526D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996
AA Change: N526D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
A4_EXTRA
|
42 |
204 |
7.91e-123 |
SMART |
|
low complexity region
|
218 |
232 |
N/A |
INTRINSIC |
|
coiled coil region
|
242 |
269 |
N/A |
INTRINSIC |
|
Pfam:APP_E2
|
307 |
492 |
2.3e-75 |
PFAM |
|
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
553 |
N/A |
INTRINSIC |
|
Pfam:APP_amyloid
|
652 |
703 |
1.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213254
AA Change: N582D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217641
AA Change: N526D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217658
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for two different targeted alleles show embryonic lethality, or viability and fertility with increased copper levels in cerebral cortex and liver. Double knockouts with App show high mortality, reduced growth, and neurological symptoms. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
| Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
| Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
| Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,334,050 (GRCm39) |
Y207N |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
| Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
| Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
| Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
| Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
| Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
| Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,622,960 (GRCm39) |
T80A |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
| Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
| Qrich2 |
A |
G |
11: 116,349,054 (GRCm39) |
|
probably benign |
Het |
| Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
| Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
| Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
| Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
| Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,037 (GRCm39) |
V704E |
probably damaging |
Het |
| Tmem39a |
A |
G |
16: 38,405,599 (GRCm39) |
T59A |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
probably damaging |
Het |
|
| Other mutations in Aplp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02067:Aplp2
|
APN |
9 |
31,062,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Aplp2
|
APN |
9 |
31,122,947 (GRCm39) |
missense |
unknown |
|
|
IGL02309:Aplp2
|
APN |
9 |
31,078,979 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02407:Aplp2
|
APN |
9 |
31,069,823 (GRCm39) |
nonsense |
probably null |
|
|
IGL02623:Aplp2
|
APN |
9 |
31,089,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL02737:Aplp2
|
APN |
9 |
31,064,712 (GRCm39) |
missense |
probably benign |
|
|
IGL02958:Aplp2
|
APN |
9 |
31,075,972 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Aplp2
|
UTSW |
9 |
31,069,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0279:Aplp2
|
UTSW |
9 |
31,069,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1669:Aplp2
|
UTSW |
9 |
31,079,029 (GRCm39) |
intron |
probably benign |
|
|
R1707:Aplp2
|
UTSW |
9 |
31,062,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Aplp2
|
UTSW |
9 |
31,088,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Aplp2
|
UTSW |
9 |
31,078,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Aplp2
|
UTSW |
9 |
31,069,122 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4031:Aplp2
|
UTSW |
9 |
31,069,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4115:Aplp2
|
UTSW |
9 |
31,069,122 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5725:Aplp2
|
UTSW |
9 |
31,069,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Aplp2
|
UTSW |
9 |
31,062,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Aplp2
|
UTSW |
9 |
31,062,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Aplp2
|
UTSW |
9 |
31,081,739 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7541:Aplp2
|
UTSW |
9 |
31,063,652 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7584:Aplp2
|
UTSW |
9 |
31,069,077 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7711:Aplp2
|
UTSW |
9 |
31,072,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8092:Aplp2
|
UTSW |
9 |
31,074,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8367:Aplp2
|
UTSW |
9 |
31,089,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Aplp2
|
UTSW |
9 |
31,122,935 (GRCm39) |
missense |
unknown |
|
|
R9400:Aplp2
|
UTSW |
9 |
31,075,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9711:Aplp2
|
UTSW |
9 |
31,083,303 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1187:Aplp2
|
UTSW |
9 |
31,063,637 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTCCCTAGTGCAATCAGG -3'
(R):5'- CCTATAAAGTCAGGCAGTAGGC -3'
Sequencing Primer
(F):5'- CTCCCTAGTGCAATCAGGTTTGAAG -3'
(R):5'- CTAGACATAGACAGGAAGTGGGTTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation