Incidental Mutation 'IGL02404:Alppl2'
| ID |
291995 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alppl2
|
| Ensembl Gene |
ENSMUSG00000026246 |
| Gene Name |
alkaline phosphatase, placental-like 2 |
| Synonyms |
D1Ertd816e, Akp5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL02404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87014416-87017650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87016585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027455]
[ENSMUST00000188310]
|
| AlphaFold |
P24823 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027455
AA Change: V163A
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027455
Gene: ENSMUSG00000026246
AA Change: V163A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
alkPPc
|
52 |
487 |
2.24e-250 |
SMART |
|
low complexity region
|
512 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186823
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188310
AA Change: V163A
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139887
Gene: ENSMUSG00000026246
AA Change: V163A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
alkPPc
|
52 |
487 |
2.24e-250 |
SMART |
|
low complexity region
|
512 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190082
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background-dependent differences in the timing of preimplantation cleavage and development, embryo survival, gestational length and litter size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
T |
C |
15: 98,494,819 (GRCm39) |
I745V |
probably benign |
Het |
| Atad2b |
T |
A |
12: 4,991,972 (GRCm39) |
S190R |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,190,004 (GRCm39) |
V336A |
possibly damaging |
Het |
| Clcn4 |
A |
C |
7: 7,290,857 (GRCm39) |
N587K |
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,852 (GRCm39) |
E82G |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,895,047 (GRCm39) |
S232G |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,216,768 (GRCm39) |
I662T |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Daw1 |
A |
G |
1: 83,174,952 (GRCm39) |
T151A |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,093,043 (GRCm39) |
E1052G |
probably damaging |
Het |
| Gpr12 |
G |
A |
5: 146,520,733 (GRCm39) |
A63V |
probably damaging |
Het |
| Inmt |
C |
T |
6: 55,148,095 (GRCm39) |
R178Q |
possibly damaging |
Het |
| Metap1 |
A |
T |
3: 138,195,069 (GRCm39) |
C22S |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,266 (GRCm39) |
|
probably benign |
Het |
| Or2ag17 |
A |
C |
7: 106,389,566 (GRCm39) |
I214S |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,604,744 (GRCm39) |
S58P |
possibly damaging |
Het |
| Pigs |
T |
A |
11: 78,230,857 (GRCm39) |
I368N |
probably benign |
Het |
| Plekhm1 |
C |
T |
11: 103,285,824 (GRCm39) |
D204N |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,764,431 (GRCm39) |
|
probably benign |
Het |
| Rps4l |
A |
G |
6: 148,256,277 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,937,611 (GRCm39) |
M1660K |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,523,227 (GRCm39) |
V23G |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,692,809 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,340 (GRCm39) |
Y73C |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,540,888 (GRCm39) |
C254Y |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,770,322 (GRCm39) |
N2623I |
possibly damaging |
Het |
| Ulk1 |
A |
T |
5: 110,944,100 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,875,305 (GRCm39) |
Y1734C |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,171 (GRCm39) |
D143G |
possibly damaging |
Het |
| Wac |
A |
G |
18: 7,917,570 (GRCm39) |
T347A |
probably damaging |
Het |
| Wdr62 |
G |
T |
7: 29,967,298 (GRCm39) |
R319S |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,532 (GRCm39) |
K551E |
probably damaging |
Het |
|
| Other mutations in Alppl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Alppl2
|
APN |
1 |
87,016,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Alppl2
|
UTSW |
1 |
87,015,898 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0194:Alppl2
|
UTSW |
1 |
87,016,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Alppl2
|
UTSW |
1 |
87,017,324 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0631:Alppl2
|
UTSW |
1 |
87,017,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Alppl2
|
UTSW |
1 |
87,015,446 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1976:Alppl2
|
UTSW |
1 |
87,016,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Alppl2
|
UTSW |
1 |
87,015,419 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3796:Alppl2
|
UTSW |
1 |
87,016,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4672:Alppl2
|
UTSW |
1 |
87,017,187 (GRCm39) |
intron |
probably benign |
|
|
R5020:Alppl2
|
UTSW |
1 |
87,017,431 (GRCm39) |
missense |
probably benign |
|
|
R5513:Alppl2
|
UTSW |
1 |
87,015,060 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6258:Alppl2
|
UTSW |
1 |
87,016,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Alppl2
|
UTSW |
1 |
87,016,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Alppl2
|
UTSW |
1 |
87,017,420 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7038:Alppl2
|
UTSW |
1 |
87,016,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Alppl2
|
UTSW |
1 |
87,015,184 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7573:Alppl2
|
UTSW |
1 |
87,015,953 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7910:Alppl2
|
UTSW |
1 |
87,015,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Alppl2
|
UTSW |
1 |
87,015,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Alppl2
|
UTSW |
1 |
87,015,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Alppl2
|
UTSW |
1 |
87,015,753 (GRCm39) |
missense |
probably benign |
|
|
R9719:Alppl2
|
UTSW |
1 |
87,016,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9733:Alppl2
|
UTSW |
1 |
87,014,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Alppl2
|
UTSW |
1 |
87,015,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Alppl2
|
UTSW |
1 |
87,015,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation