Incidental Mutation 'IGL01737:Mptx2'
ID |
105743 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mptx2
|
Ensembl Gene |
ENSMUSG00000079180 |
Gene Name |
mucosal pentraxin 2 |
Synonyms |
Gm11062 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL01737
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
173102028-173105323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 173102408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 94
(V94F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059754]
[ENSMUST00000111224]
[ENSMUST00000213420]
|
AlphaFold |
D3YYJ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059754
|
SMART Domains |
Protein: ENSMUSP00000052418 Gene: ENSMUSG00000049605
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
1.6e-55 |
PFAM |
Pfam:7tm_1
|
41 |
289 |
5.7e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111224
AA Change: V94F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106855 Gene: ENSMUSG00000079180 AA Change: V94F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PTX
|
20 |
219 |
1.93e-94 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213420
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
Ccdc92 |
T |
C |
5: 124,912,920 (GRCm39) |
E203G |
probably damaging |
Het |
Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
Def6 |
G |
T |
17: 28,442,701 (GRCm39) |
R288L |
possibly damaging |
Het |
Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
Gss |
T |
C |
2: 155,409,726 (GRCm39) |
K77E |
probably damaging |
Het |
Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
Krt36 |
A |
T |
11: 99,994,946 (GRCm39) |
C209S |
possibly damaging |
Het |
Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
Ndnf |
T |
A |
6: 65,680,539 (GRCm39) |
S273T |
probably benign |
Het |
Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
Tmprss11e |
A |
G |
5: 86,867,593 (GRCm39) |
V159A |
probably damaging |
Het |
Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
probably benign |
Het |
|
Other mutations in Mptx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Mptx2
|
APN |
1 |
173,102,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Mptx2
|
APN |
1 |
173,102,248 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03185:Mptx2
|
APN |
1 |
173,102,356 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1772:Mptx2
|
UTSW |
1 |
173,102,040 (GRCm39) |
missense |
probably damaging |
0.98 |
R2070:Mptx2
|
UTSW |
1 |
173,102,145 (GRCm39) |
nonsense |
probably null |
|
R3792:Mptx2
|
UTSW |
1 |
173,102,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Mptx2
|
UTSW |
1 |
173,102,414 (GRCm39) |
missense |
probably benign |
0.05 |
R5700:Mptx2
|
UTSW |
1 |
173,102,414 (GRCm39) |
missense |
probably benign |
0.05 |
R5701:Mptx2
|
UTSW |
1 |
173,102,414 (GRCm39) |
missense |
probably benign |
0.05 |
R6110:Mptx2
|
UTSW |
1 |
173,102,414 (GRCm39) |
missense |
probably benign |
0.05 |
R6118:Mptx2
|
UTSW |
1 |
173,102,414 (GRCm39) |
missense |
probably benign |
0.05 |
R6124:Mptx2
|
UTSW |
1 |
173,102,414 (GRCm39) |
missense |
probably benign |
0.05 |
R6738:Mptx2
|
UTSW |
1 |
173,102,422 (GRCm39) |
missense |
probably benign |
0.05 |
R6895:Mptx2
|
UTSW |
1 |
173,105,252 (GRCm39) |
missense |
probably benign |
|
R8288:Mptx2
|
UTSW |
1 |
173,102,356 (GRCm39) |
missense |
probably benign |
0.00 |
R8737:Mptx2
|
UTSW |
1 |
173,105,256 (GRCm39) |
missense |
probably benign |
0.00 |
R8857:Mptx2
|
UTSW |
1 |
173,102,452 (GRCm39) |
missense |
probably benign |
0.32 |
R9070:Mptx2
|
UTSW |
1 |
173,102,119 (GRCm39) |
missense |
probably benign |
0.01 |
RF001:Mptx2
|
UTSW |
1 |
173,102,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-01-21 |