Incidental Mutation 'I2288:Alppl2'
| ID |
7913 |
| Institutional Source |
Beutler Lab
|
| 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 # |
I2288 (G3)
of strain
633
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87014416-87017650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87015898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 284
(M284K)
|
| 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: M284K
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027455
Gene: ENSMUSG00000026246
AA Change: M284K
| 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: M284K
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139887
Gene: ENSMUSG00000026246
AA Change: M284K
| 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
|
| Meta Mutation Damage Score |
0.7833 |
| Coding Region Coverage |
|
| Validation Efficiency |
71% (138/195) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
| Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
| Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
| Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
| Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
| Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
| Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
| Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
| Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
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 |
|
IGL02404:Alppl2
|
APN |
1 |
87,016,585 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2012-11-13 |
Incidental Mutation