Incidental Mutation 'IGL03231:Prrt3'
ID |
413919 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prrt3
|
Ensembl Gene |
ENSMUSG00000045009 |
Gene Name |
proline-rich transmembrane protein 3 |
Synonyms |
B230206N24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
IGL03231
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113470600-113478892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113474485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 246
(S246P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032422]
[ENSMUST00000101059]
[ENSMUST00000204134]
[ENSMUST00000204268]
[ENSMUST00000205075]
[ENSMUST00000205170]
|
AlphaFold |
Q6PE13 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032422
|
SMART Domains |
Protein: ENSMUSP00000032422 Gene: ENSMUSG00000030284
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:DUF3456
|
45 |
103 |
1.7e-9 |
PFAM |
EGF
|
154 |
193 |
2.11e1 |
SMART |
FU
|
208 |
255 |
1.66e-1 |
SMART |
EGF
|
213 |
244 |
2.2e1 |
SMART |
EGF_like
|
245 |
290 |
4.26e-3 |
SMART |
FU
|
268 |
315 |
4.46e-2 |
SMART |
EGF_CA
|
305 |
344 |
1.1e-7 |
SMART |
transmembrane domain
|
363 |
382 |
N/A |
INTRINSIC |
transmembrane domain
|
387 |
406 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101059
AA Change: S246P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000098620 Gene: ENSMUSG00000045009 AA Change: S246P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
low complexity region
|
423 |
447 |
N/A |
INTRINSIC |
transmembrane domain
|
463 |
485 |
N/A |
INTRINSIC |
transmembrane domain
|
492 |
511 |
N/A |
INTRINSIC |
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
transmembrane domain
|
561 |
583 |
N/A |
INTRINSIC |
transmembrane domain
|
588 |
610 |
N/A |
INTRINSIC |
transmembrane domain
|
630 |
652 |
N/A |
INTRINSIC |
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
low complexity region
|
885 |
905 |
N/A |
INTRINSIC |
low complexity region
|
927 |
943 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204134
AA Change: S246P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000145031 Gene: ENSMUSG00000045009 AA Change: S246P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
low complexity region
|
424 |
448 |
N/A |
INTRINSIC |
transmembrane domain
|
464 |
486 |
N/A |
INTRINSIC |
transmembrane domain
|
493 |
512 |
N/A |
INTRINSIC |
transmembrane domain
|
527 |
549 |
N/A |
INTRINSIC |
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
transmembrane domain
|
589 |
611 |
N/A |
INTRINSIC |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
low complexity region
|
886 |
906 |
N/A |
INTRINSIC |
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204268
AA Change: S246P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000145443 Gene: ENSMUSG00000045009 AA Change: S246P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
low complexity region
|
424 |
448 |
N/A |
INTRINSIC |
transmembrane domain
|
464 |
486 |
N/A |
INTRINSIC |
transmembrane domain
|
493 |
512 |
N/A |
INTRINSIC |
transmembrane domain
|
527 |
549 |
N/A |
INTRINSIC |
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
transmembrane domain
|
589 |
611 |
N/A |
INTRINSIC |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
low complexity region
|
886 |
906 |
N/A |
INTRINSIC |
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204920
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205075
AA Change: S246P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145089 Gene: ENSMUSG00000045009 AA Change: S246P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205170
AA Change: S246P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145183 Gene: ENSMUSG00000045009 AA Change: S246P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
probably damaging |
Het |
|
Other mutations in Prrt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01061:Prrt3
|
APN |
6 |
113,474,731 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02199:Prrt3
|
APN |
6 |
113,471,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02441:Prrt3
|
APN |
6 |
113,473,977 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02498:Prrt3
|
APN |
6 |
113,474,788 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02508:Prrt3
|
APN |
6 |
113,471,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:Prrt3
|
UTSW |
6 |
113,474,790 (GRCm39) |
missense |
probably damaging |
0.97 |
R0102:Prrt3
|
UTSW |
6 |
113,474,790 (GRCm39) |
missense |
probably damaging |
0.97 |
R0207:Prrt3
|
UTSW |
6 |
113,472,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R1005:Prrt3
|
UTSW |
6 |
113,471,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R1550:Prrt3
|
UTSW |
6 |
113,472,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R4036:Prrt3
|
UTSW |
6 |
113,474,641 (GRCm39) |
frame shift |
probably null |
|
R4393:Prrt3
|
UTSW |
6 |
113,471,907 (GRCm39) |
missense |
probably benign |
|
R4604:Prrt3
|
UTSW |
6 |
113,475,198 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4825:Prrt3
|
UTSW |
6 |
113,475,099 (GRCm39) |
missense |
probably benign |
0.01 |
R5155:Prrt3
|
UTSW |
6 |
113,474,520 (GRCm39) |
splice site |
probably null |
|
R6154:Prrt3
|
UTSW |
6 |
113,471,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Prrt3
|
UTSW |
6 |
113,471,449 (GRCm39) |
missense |
probably damaging |
0.98 |
R8903:Prrt3
|
UTSW |
6 |
113,472,796 (GRCm39) |
missense |
probably damaging |
0.98 |
R9335:Prrt3
|
UTSW |
6 |
113,475,058 (GRCm39) |
missense |
probably benign |
0.12 |
R9574:Prrt3
|
UTSW |
6 |
113,474,587 (GRCm39) |
missense |
probably benign |
0.12 |
R9768:Prrt3
|
UTSW |
6 |
113,474,032 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Prrt3
|
UTSW |
6 |
113,474,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |