Incidental Mutation 'IGL00984:Alppl2'
| ID |
26777 |
| 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: 0.111)
|
| Stock # |
IGL00984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87014416-87017650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87016534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 180
(H180L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027455]
[ENSMUST00000188310]
|
| AlphaFold |
P24823 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027455
AA Change: H180L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027455
Gene: ENSMUSG00000026246
AA Change: H180L
| 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 |
probably damaging
Transcript: ENSMUST00000188310
AA Change: H180L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139887
Gene: ENSMUSG00000026246
AA Change: H180L
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,624 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
| Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
| Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
| Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,618 (GRCm39) |
L311H |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
| Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
| Rpl3l |
T |
C |
17: 24,954,445 (GRCm39) |
C336R |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,597 (GRCm39) |
S443P |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
| Syt16 |
C |
T |
12: 74,269,604 (GRCm39) |
Q148* |
probably null |
Het |
| Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
| Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,046 (GRCm39) |
V214A |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
Het |
|
| Other mutations in Alppl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02404:Alppl2
|
APN |
1 |
87,016,585 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2013-04-17 |
Incidental Mutation