Incidental Mutation 'IGL01585:Prrt4'
| ID |
93347 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prrt4
|
| Ensembl Gene |
ENSMUSG00000079654 |
| Gene Name |
proline-rich transmembrane protein 4 |
| Synonyms |
D330027H18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL01585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29169231-29179583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29177689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159200]
|
| AlphaFold |
B2RU40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159200
AA Change: S27P
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123751
Gene: ENSMUSG00000079654
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
208 |
N/A |
INTRINSIC |
|
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
|
transmembrane domain
|
396 |
418 |
N/A |
INTRINSIC |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
467 |
489 |
N/A |
INTRINSIC |
|
transmembrane domain
|
504 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
702 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
882 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,359,045 (GRCm39) |
D587G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,117,143 (GRCm39) |
N1003K |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,462 (GRCm39) |
D847G |
probably benign |
Het |
| Atp5f1a |
T |
C |
18: 77,868,758 (GRCm39) |
V417A |
possibly damaging |
Het |
| Avp |
A |
C |
2: 130,422,629 (GRCm39) |
S159A |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,462,981 (GRCm39) |
A915D |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,462 (GRCm39) |
R1185H |
possibly damaging |
Het |
| Cdcp3 |
T |
G |
7: 130,846,487 (GRCm39) |
V637G |
probably damaging |
Het |
| Clrn2 |
A |
G |
5: 45,617,500 (GRCm39) |
I124V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,595,289 (GRCm39) |
K469* |
probably null |
Het |
| Cxcl1 |
T |
A |
5: 91,039,583 (GRCm39) |
N70K |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,458,492 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,202,030 (GRCm39) |
V1281E |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,891,305 (GRCm39) |
Q523L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,445,954 (GRCm39) |
K403R |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,759,336 (GRCm39) |
I262T |
probably benign |
Het |
| Gstm3 |
G |
T |
3: 107,873,474 (GRCm39) |
Q166K |
probably benign |
Het |
| Ilf2 |
T |
A |
3: 90,391,849 (GRCm39) |
N183K |
probably damaging |
Het |
| Ip6k2 |
T |
A |
9: 108,673,512 (GRCm39) |
L40Q |
probably damaging |
Het |
| Itga8 |
A |
T |
2: 12,165,123 (GRCm39) |
|
probably benign |
Het |
| Lbr |
T |
A |
1: 181,653,208 (GRCm39) |
R70* |
probably null |
Het |
| Lilra6 |
T |
C |
7: 3,917,498 (GRCm39) |
T166A |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,467,846 (GRCm39) |
K1063E |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,568,949 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,792,197 (GRCm39) |
V408A |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,306,538 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,891 (GRCm39) |
|
probably null |
Het |
| Psmg1 |
G |
A |
16: 95,789,221 (GRCm39) |
T112I |
possibly damaging |
Het |
| Rfx7 |
T |
G |
9: 72,524,343 (GRCm39) |
I511S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,031,198 (GRCm39) |
T481M |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,462,336 (GRCm39) |
D397G |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,311,578 (GRCm39) |
Y636H |
probably damaging |
Het |
| Sgms1 |
T |
G |
19: 32,120,245 (GRCm39) |
R220S |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,314,196 (GRCm39) |
I472N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,995,834 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,782,463 (GRCm39) |
V579A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,162,924 (GRCm39) |
H1002L |
probably damaging |
Het |
|
| Other mutations in Prrt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Prrt4
|
APN |
6 |
29,176,455 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03015:Prrt4
|
APN |
6 |
29,169,996 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0143:Prrt4
|
UTSW |
6 |
29,170,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Prrt4
|
UTSW |
6 |
29,171,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Prrt4
|
UTSW |
6 |
29,169,813 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1391:Prrt4
|
UTSW |
6 |
29,169,950 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3907:Prrt4
|
UTSW |
6 |
29,177,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Prrt4
|
UTSW |
6 |
29,170,163 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4829:Prrt4
|
UTSW |
6 |
29,177,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5070:Prrt4
|
UTSW |
6 |
29,177,511 (GRCm39) |
missense |
probably benign |
|
|
R5825:Prrt4
|
UTSW |
6 |
29,177,182 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6023:Prrt4
|
UTSW |
6 |
29,176,452 (GRCm39) |
missense |
probably benign |
|
|
R6776:Prrt4
|
UTSW |
6 |
29,176,551 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6860:Prrt4
|
UTSW |
6 |
29,170,737 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6984:Prrt4
|
UTSW |
6 |
29,171,429 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7032:Prrt4
|
UTSW |
6 |
29,170,538 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7033:Prrt4
|
UTSW |
6 |
29,171,147 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7444:Prrt4
|
UTSW |
6 |
29,176,516 (GRCm39) |
missense |
probably benign |
|
|
R7689:Prrt4
|
UTSW |
6 |
29,177,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7711:Prrt4
|
UTSW |
6 |
29,177,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7735:Prrt4
|
UTSW |
6 |
29,170,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7748:Prrt4
|
UTSW |
6 |
29,177,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Prrt4
|
UTSW |
6 |
29,177,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Prrt4
|
UTSW |
6 |
29,177,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Prrt4
|
UTSW |
6 |
29,176,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7880:Prrt4
|
UTSW |
6 |
29,170,155 (GRCm39) |
missense |
probably benign |
|
|
R8835:Prrt4
|
UTSW |
6 |
29,169,986 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8948:Prrt4
|
UTSW |
6 |
29,177,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8950:Prrt4
|
UTSW |
6 |
29,177,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9044:Prrt4
|
UTSW |
6 |
29,171,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9214:Prrt4
|
UTSW |
6 |
29,170,767 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2013-12-09 |
Incidental Mutation