Incidental Mutation 'R3796:Alppl2'
| ID |
272747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alppl2
|
| Ensembl Gene |
ENSMUSG00000026246 |
| Gene Name |
alkaline phosphatase, placental-like 2 |
| Synonyms |
D1Ertd816e, Akp5 |
| MMRRC Submission |
040757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R3796 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87014416-87017650 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 87016076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027455]
[ENSMUST00000027455]
[ENSMUST00000188310]
[ENSMUST00000188310]
|
| AlphaFold |
P24823 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027455
|
| SMART Domains |
Protein: ENSMUSP00000027455
Gene: ENSMUSG00000026246
| 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 |
probably null
Transcript: ENSMUST00000027455
|
| SMART Domains |
Protein: ENSMUSP00000027455
Gene: ENSMUSG00000026246
| 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 null
Transcript: ENSMUST00000188310
|
| SMART Domains |
Protein: ENSMUSP00000139887
Gene: ENSMUSG00000026246
| 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 |
probably null
Transcript: ENSMUST00000188310
|
| SMART Domains |
Protein: ENSMUSP00000139887
Gene: ENSMUSG00000026246
| 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 |
0.9377 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
G |
7: 66,489,662 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,910,049 (GRCm39) |
|
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Clk2 |
A |
G |
3: 89,082,996 (GRCm39) |
N424S |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
| Dnajc16 |
G |
T |
4: 141,495,048 (GRCm39) |
D521E |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,416,783 (GRCm39) |
V772A |
probably benign |
Het |
| Dst |
G |
T |
1: 34,220,996 (GRCm39) |
V2267F |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,462,169 (GRCm39) |
Y5170H |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,906 (GRCm39) |
L496I |
probably benign |
Het |
| Krt8 |
T |
C |
15: 101,907,877 (GRCm39) |
I233V |
probably benign |
Het |
| Mfap1b |
A |
G |
2: 121,304,386 (GRCm39) |
V3A |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Plbd2 |
A |
T |
5: 120,630,933 (GRCm39) |
I224N |
probably damaging |
Het |
| Rab19 |
T |
C |
6: 39,360,975 (GRCm39) |
V41A |
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,114,910 (GRCm39) |
|
probably null |
Het |
| Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,054,501 (GRCm39) |
L1037F |
possibly damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,458,601 (GRCm39) |
D527G |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,731,823 (GRCm39) |
|
probably benign |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,309,996 (GRCm39) |
D408G |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,580,916 (GRCm39) |
I477N |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,883,037 (GRCm39) |
V21A |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCATCCTAGGGACACAC -3'
(R):5'- GATCAATCAGGTCCCAAGCTC -3'
Sequencing Primer
(F):5'- CCCATGAGGTGTGTCACAGATC -3'
(R):5'- AAGCTCACCTCTGATCGTAGGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation