Incidental Mutation 'R9207:Mpped2'
ID |
698565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpped2
|
Ensembl Gene |
ENSMUSG00000016386 |
Gene Name |
metallophosphoesterase domain containing 2 |
Synonyms |
239Fb, 2700082O15Rik |
MMRRC Submission |
068981-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9207 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
106523614-106698701 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106697319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 265
(T265A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016530]
[ENSMUST00000111063]
[ENSMUST00000125023]
|
AlphaFold |
Q9CZJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016530
AA Change: T265A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000016530 Gene: ENSMUSG00000016386 AA Change: T265A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
58 |
256 |
3e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111063
AA Change: T265A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000106692 Gene: ENSMUSG00000016386 AA Change: T265A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
58 |
256 |
1.5e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125023
AA Change: T265A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123267 Gene: ENSMUSG00000016386 AA Change: T265A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
58 |
256 |
1.7e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
G |
8: 60,979,657 (GRCm39) |
I173S |
probably damaging |
Het |
Actrt2 |
T |
A |
4: 154,751,920 (GRCm39) |
H72L |
probably benign |
Het |
Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,215,616 (GRCm39) |
L226P |
|
Het |
Begain |
T |
C |
12: 108,999,250 (GRCm39) |
D507G |
probably damaging |
Het |
Bsdc1 |
A |
G |
4: 129,362,830 (GRCm39) |
N134S |
probably benign |
Het |
Ccdc39 |
C |
A |
3: 33,886,706 (GRCm39) |
E301* |
probably null |
Het |
Cdh23 |
A |
G |
10: 60,243,210 (GRCm39) |
V1055A |
probably damaging |
Het |
Efcab8 |
A |
G |
2: 153,656,339 (GRCm39) |
D591G |
unknown |
Het |
Fibcd1 |
G |
A |
2: 31,706,455 (GRCm39) |
R459C |
probably damaging |
Het |
Frem3 |
T |
G |
8: 81,340,071 (GRCm39) |
V788G |
possibly damaging |
Het |
Ftcd |
A |
T |
10: 76,422,973 (GRCm39) |
I423L |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,409,546 (GRCm39) |
|
probably null |
Het |
Gm8229 |
T |
C |
14: 44,606,238 (GRCm39) |
L156P |
|
Het |
Grm7 |
T |
C |
6: 111,335,874 (GRCm39) |
Y762H |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,433,496 (GRCm39) |
V937D |
possibly damaging |
Het |
Ifnz |
T |
C |
4: 88,701,525 (GRCm39) |
V168A |
probably benign |
Het |
Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
Itgb4 |
G |
T |
11: 115,897,923 (GRCm39) |
G1603V |
probably damaging |
Het |
Krt32 |
A |
G |
11: 99,977,580 (GRCm39) |
V162A |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,114,818 (GRCm39) |
L580P |
possibly damaging |
Het |
Or4f47 |
G |
A |
2: 111,972,397 (GRCm39) |
V36M |
probably benign |
Het |
Or5b109 |
A |
T |
19: 13,212,400 (GRCm39) |
Q262L |
possibly damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,960 (GRCm39) |
M136I |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,058,117 (GRCm39) |
L3940P |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,763,904 (GRCm39) |
Y283H |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,967,215 (GRCm39) |
H281R |
probably damaging |
Het |
Rftn2 |
T |
A |
1: 55,224,149 (GRCm39) |
Q397L |
probably damaging |
Het |
Rnf166 |
C |
T |
8: 123,195,068 (GRCm39) |
A151T |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,246,113 (GRCm39) |
I604N |
possibly damaging |
Het |
Smr2 |
A |
G |
5: 88,256,726 (GRCm39) |
T135A |
unknown |
Het |
Snai2 |
C |
A |
16: 14,524,946 (GRCm39) |
H151N |
possibly damaging |
Het |
Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,039,139 (GRCm39) |
T1161A |
probably benign |
Het |
Sult2a1 |
G |
T |
7: 13,566,627 (GRCm39) |
A116E |
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,626 (GRCm39) |
L236* |
probably null |
Het |
Tchhl1 |
T |
A |
3: 93,377,819 (GRCm39) |
N174K |
possibly damaging |
Het |
Tex15 |
T |
C |
8: 34,065,784 (GRCm39) |
L1738P |
probably damaging |
Het |
Timp4 |
T |
C |
6: 115,224,270 (GRCm39) |
Y133C |
probably damaging |
Het |
Tmem25 |
A |
G |
9: 44,710,476 (GRCm39) |
|
probably null |
Het |
Tubd1 |
A |
T |
11: 86,456,537 (GRCm39) |
T399S |
probably benign |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Zfp110 |
A |
T |
7: 12,582,485 (GRCm39) |
I378L |
probably benign |
Het |
|
Other mutations in Mpped2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01068:Mpped2
|
APN |
2 |
106,695,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01734:Mpped2
|
APN |
2 |
106,614,158 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03031:Mpped2
|
APN |
2 |
106,613,968 (GRCm39) |
splice site |
probably benign |
|
LCD18:Mpped2
|
UTSW |
2 |
106,551,773 (GRCm39) |
intron |
probably benign |
|
R1446:Mpped2
|
UTSW |
2 |
106,614,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1460:Mpped2
|
UTSW |
2 |
106,575,237 (GRCm39) |
unclassified |
probably benign |
|
R1857:Mpped2
|
UTSW |
2 |
106,613,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Mpped2
|
UTSW |
2 |
106,529,790 (GRCm39) |
missense |
probably benign |
0.26 |
R1888:Mpped2
|
UTSW |
2 |
106,529,790 (GRCm39) |
missense |
probably benign |
0.26 |
R1919:Mpped2
|
UTSW |
2 |
106,697,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:Mpped2
|
UTSW |
2 |
106,575,147 (GRCm39) |
nonsense |
probably null |
|
R2074:Mpped2
|
UTSW |
2 |
106,575,147 (GRCm39) |
nonsense |
probably null |
|
R2075:Mpped2
|
UTSW |
2 |
106,575,147 (GRCm39) |
nonsense |
probably null |
|
R2295:Mpped2
|
UTSW |
2 |
106,529,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4720:Mpped2
|
UTSW |
2 |
106,614,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Mpped2
|
UTSW |
2 |
106,529,724 (GRCm39) |
utr 5 prime |
probably benign |
|
R5201:Mpped2
|
UTSW |
2 |
106,529,847 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6500:Mpped2
|
UTSW |
2 |
106,691,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Mpped2
|
UTSW |
2 |
106,697,322 (GRCm39) |
missense |
probably benign |
0.06 |
R6994:Mpped2
|
UTSW |
2 |
106,529,878 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7807:Mpped2
|
UTSW |
2 |
106,575,085 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8827:Mpped2
|
UTSW |
2 |
106,691,928 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8878:Mpped2
|
UTSW |
2 |
106,575,065 (GRCm39) |
missense |
probably damaging |
0.97 |
R8932:Mpped2
|
UTSW |
2 |
106,697,395 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9024:Mpped2
|
UTSW |
2 |
106,614,043 (GRCm39) |
missense |
probably benign |
0.12 |
Z1177:Mpped2
|
UTSW |
2 |
106,691,937 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Mpped2
|
UTSW |
2 |
106,575,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTATCTGGAAAGGCCCAC -3'
(R):5'- GCCTTTGAGCAAACAGAAGTC -3'
Sequencing Primer
(F):5'- TCTGGAAAGGCCCACTGAATTTC -3'
(R):5'- TCACATTCCAACGGGATG -3'
|
Posted On |
2022-02-07 |