Incidental Mutation 'R5170:Ptx4'
| ID |
397527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptx4
|
| Ensembl Gene |
ENSMUSG00000044172 |
| Gene Name |
pentraxin 4 |
| Synonyms |
1110018H23Rik |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25339734-25344266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25342152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 209
(R209Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054930]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054930
AA Change: R209Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000055984
Gene: ENSMUSG00000044172
AA Change: R209Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Blast:HOX
|
32 |
122 |
3e-35 |
BLAST |
|
coiled coil region
|
147 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pentaxin
|
271 |
460 |
7.3e-33 |
PFAM |
|
Pfam:Laminin_G_3
|
277 |
440 |
2.4e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
| Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
| Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
| Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Ptx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03027:Ptx4
|
APN |
17 |
25,344,022 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03373:Ptx4
|
APN |
17 |
25,339,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03394:Ptx4
|
APN |
17 |
25,343,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Ptx4
|
UTSW |
17 |
25,342,082 (GRCm39) |
nonsense |
probably null |
|
|
R3765:Ptx4
|
UTSW |
17 |
25,341,842 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4629:Ptx4
|
UTSW |
17 |
25,341,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Ptx4
|
UTSW |
17 |
25,342,100 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4938:Ptx4
|
UTSW |
17 |
25,342,139 (GRCm39) |
nonsense |
probably null |
|
|
R5517:Ptx4
|
UTSW |
17 |
25,343,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6614:Ptx4
|
UTSW |
17 |
25,341,676 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6993:Ptx4
|
UTSW |
17 |
25,343,898 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7070:Ptx4
|
UTSW |
17 |
25,341,971 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7230:Ptx4
|
UTSW |
17 |
25,342,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7501:Ptx4
|
UTSW |
17 |
25,344,166 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7845:Ptx4
|
UTSW |
17 |
25,343,928 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8069:Ptx4
|
UTSW |
17 |
25,341,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Ptx4
|
UTSW |
17 |
25,341,839 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8370:Ptx4
|
UTSW |
17 |
25,342,314 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8388:Ptx4
|
UTSW |
17 |
25,339,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8798:Ptx4
|
UTSW |
17 |
25,343,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Ptx4
|
UTSW |
17 |
25,344,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Ptx4
|
UTSW |
17 |
25,343,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9190:Ptx4
|
UTSW |
17 |
25,342,257 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9225:Ptx4
|
UTSW |
17 |
25,341,696 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9285:Ptx4
|
UTSW |
17 |
25,343,930 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATTGCAAGCCTGGCCCTAAG -3'
(R):5'- CTCAGACACTGCTAGGGAAAC -3'
Sequencing Primer
(F):5'- CTAAGCGTTCAGGCACTACAGG -3'
(R):5'- CCTGGAACTTGATAGGGAGGTGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation