Incidental Mutation 'R8370:Ptx4'
| ID |
646359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptx4
|
| Ensembl Gene |
ENSMUSG00000044172 |
| Gene Name |
pentraxin 4 |
| Synonyms |
1110018H23Rik |
| MMRRC Submission |
067809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R8370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25339734-25344266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25342314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 263
(P263Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054930]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054930
AA Change: P263Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055984
Gene: ENSMUSG00000044172
AA Change: P263Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
| Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,317,681 (GRCm39) |
R113C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
| Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
| Mrps18b |
T |
C |
17: 36,223,254 (GRCm39) |
I131V |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
| Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
| Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
| Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
| Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,766 (GRCm39) |
D18G |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
| Trim14 |
A |
T |
4: 46,523,711 (GRCm39) |
L109Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
| Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
probably benign |
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 |
|
|
R5170:Ptx4
|
UTSW |
17 |
25,342,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- AGGCACTACAGGATGCACTG -3'
(R):5'- ATAGAGGCCCTTCTGCTATGC -3'
Sequencing Primer
(F):5'- ACTACAGGATGCACTGGCCAG -3'
(R):5'- GCTATGCAGCCTGACCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation