Incidental Mutation 'R4036:Prrt3'
| ID |
313711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prrt3
|
| Ensembl Gene |
ENSMUSG00000045009 |
| Gene Name |
proline-rich transmembrane protein 3 |
| Synonyms |
B230206N24Rik |
| MMRRC Submission |
040963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4036 (G1)
|
| Quality Score |
104 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113470600-113478892 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AGGGGG to AGGGG
at 113474641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000101059
|
| SMART Domains |
Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009
| 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 null
Transcript: ENSMUST00000204134
|
| SMART Domains |
Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009
| 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 null
Transcript: ENSMUST00000204268
|
| SMART Domains |
Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009
| 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 |
probably null
Transcript: ENSMUST00000205075
|
| SMART Domains |
Protein: ENSMUSP00000145089
Gene: ENSMUSG00000045009
| 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 |
probably null
Transcript: ENSMUST00000205170
|
| SMART Domains |
Protein: ENSMUSP00000145183
Gene: ENSMUSG00000045009
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
| Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
| Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
| Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
| Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
| Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly 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 |
|
IGL03231:Prrt3
|
APN |
6 |
113,474,485 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTCCACTTTAACTGGGG -3'
(R):5'- TGACTCACAGGAGCTTCTGG -3'
Sequencing Primer
(F):5'- CCACTTTAACTGGGGGTGTTGAG -3'
(R):5'- AGAACCCCACCCTGTGCG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation