Incidental Mutation 'R2403:Gprin3'
ID |
248813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gprin3
|
Ensembl Gene |
ENSMUSG00000045441 |
Gene Name |
GPRIN family member 3 |
Synonyms |
C030038J10Rik |
MMRRC Submission |
040369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2403 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
59324211-59403279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59331134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 391
(A391V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051065]
|
AlphaFold |
Q8BWS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051065
AA Change: A391V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000051805 Gene: ENSMUSG00000045441 AA Change: A391V
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
low complexity region
|
311 |
329 |
N/A |
INTRINSIC |
low complexity region
|
593 |
609 |
N/A |
INTRINSIC |
Pfam:GRIN_C
|
627 |
758 |
2.7e-49 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,964,592 (GRCm39) |
E925G |
probably damaging |
Het |
Abca9 |
T |
G |
11: 110,006,280 (GRCm39) |
Q1275P |
probably benign |
Het |
Adgrl1 |
T |
A |
8: 84,657,870 (GRCm39) |
M492K |
probably benign |
Het |
Ankrd50 |
T |
A |
3: 38,537,234 (GRCm39) |
K3* |
probably null |
Het |
Arl5b |
T |
C |
2: 15,079,848 (GRCm39) |
S140P |
probably damaging |
Het |
Armc1 |
T |
C |
3: 19,211,840 (GRCm39) |
|
probably benign |
Het |
Ascc1 |
T |
C |
10: 59,840,663 (GRCm39) |
I8T |
probably benign |
Het |
Bche |
A |
G |
3: 73,608,805 (GRCm39) |
V207A |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 28,627,259 (GRCm39) |
L1080P |
probably benign |
Het |
Ceacam3 |
C |
A |
7: 16,895,779 (GRCm39) |
A583D |
probably damaging |
Het |
Cep290 |
C |
T |
10: 100,373,299 (GRCm39) |
A1193V |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,290,046 (GRCm39) |
I827T |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,175,641 (GRCm39) |
D69G |
possibly damaging |
Het |
Cts3 |
A |
G |
13: 61,712,806 (GRCm39) |
W305R |
probably damaging |
Het |
Dmwd |
T |
C |
7: 18,815,084 (GRCm39) |
I578T |
possibly damaging |
Het |
Dnmt3a |
G |
A |
12: 3,949,883 (GRCm39) |
V559M |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,016,549 (GRCm39) |
V70A |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,752,434 (GRCm39) |
V993A |
probably benign |
Het |
Etl4 |
T |
A |
2: 20,812,117 (GRCm39) |
L1768* |
probably null |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fat3 |
T |
G |
9: 15,881,167 (GRCm39) |
D3235A |
probably damaging |
Het |
Fbxo36 |
T |
A |
1: 84,877,823 (GRCm39) |
F162I |
probably damaging |
Het |
Fgfrl1 |
T |
C |
5: 108,852,897 (GRCm39) |
W200R |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,811,064 (GRCm39) |
M2461T |
possibly damaging |
Het |
Fut1 |
A |
G |
7: 45,268,643 (GRCm39) |
Y144C |
probably benign |
Het |
H2-Q4 |
A |
G |
17: 35,598,973 (GRCm39) |
E81G |
probably damaging |
Het |
Hacd3 |
A |
G |
9: 64,908,311 (GRCm39) |
S162P |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,114,150 (GRCm39) |
H918Q |
probably benign |
Het |
Lrp5 |
C |
A |
19: 3,647,430 (GRCm39) |
D1271Y |
probably damaging |
Het |
Lsm8 |
C |
T |
6: 18,849,643 (GRCm39) |
T17I |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,958,145 (GRCm39) |
D141V |
probably damaging |
Het |
Nckap5 |
G |
A |
1: 125,955,146 (GRCm39) |
H405Y |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or12k8 |
T |
C |
2: 36,974,986 (GRCm39) |
Y258C |
probably benign |
Het |
Ostf1 |
T |
C |
19: 18,562,026 (GRCm39) |
K190R |
probably benign |
Het |
Pnldc1 |
A |
T |
17: 13,118,777 (GRCm39) |
V197E |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,016,270 (GRCm39) |
S531P |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,516,973 (GRCm39) |
E3318K |
probably damaging |
Het |
Scamp2 |
T |
C |
9: 57,484,995 (GRCm39) |
V67A |
possibly damaging |
Het |
Serpina3g |
C |
A |
12: 104,207,421 (GRCm39) |
L195M |
probably damaging |
Het |
Siglec1 |
G |
T |
2: 130,916,395 (GRCm39) |
T1185N |
possibly damaging |
Het |
Sycp2 |
G |
A |
2: 178,045,528 (GRCm39) |
Q31* |
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,854,578 (GRCm39) |
T277P |
probably damaging |
Het |
Trim34b |
C |
T |
7: 103,978,876 (GRCm39) |
S41L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,557,705 (GRCm39) |
T21507A |
possibly damaging |
Het |
Umad1 |
T |
C |
6: 8,427,161 (GRCm39) |
V138A |
possibly damaging |
Het |
Zfp523 |
A |
G |
17: 28,414,183 (GRCm39) |
I72M |
probably damaging |
Het |
Zfp655 |
C |
T |
5: 145,181,356 (GRCm39) |
R405C |
probably benign |
Het |
Zfp715 |
G |
A |
7: 42,948,692 (GRCm39) |
R423C |
possibly damaging |
Het |
|
Other mutations in Gprin3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Gprin3
|
APN |
6 |
59,330,822 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02059:Gprin3
|
APN |
6 |
59,332,310 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02080:Gprin3
|
APN |
6 |
59,331,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02183:Gprin3
|
APN |
6 |
59,330,147 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02267:Gprin3
|
APN |
6 |
59,331,458 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02801:Gprin3
|
APN |
6 |
59,331,966 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03212:Gprin3
|
APN |
6 |
59,332,013 (GRCm39) |
missense |
probably benign |
|
creep
|
UTSW |
6 |
59,330,372 (GRCm39) |
missense |
probably damaging |
0.98 |
simplex
|
UTSW |
6 |
59,331,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
viridae
|
UTSW |
6 |
59,331,921 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0505:Gprin3
|
UTSW |
6 |
59,330,372 (GRCm39) |
missense |
probably damaging |
0.98 |
R0944:Gprin3
|
UTSW |
6 |
59,330,900 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1028:Gprin3
|
UTSW |
6 |
59,331,594 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1180:Gprin3
|
UTSW |
6 |
59,331,921 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1290:Gprin3
|
UTSW |
6 |
59,331,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2060:Gprin3
|
UTSW |
6 |
59,331,504 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3830:Gprin3
|
UTSW |
6 |
59,330,618 (GRCm39) |
missense |
probably benign |
0.12 |
R3893:Gprin3
|
UTSW |
6 |
59,331,464 (GRCm39) |
missense |
probably benign |
0.12 |
R3983:Gprin3
|
UTSW |
6 |
59,331,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4812:Gprin3
|
UTSW |
6 |
59,330,350 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4932:Gprin3
|
UTSW |
6 |
59,331,158 (GRCm39) |
missense |
probably benign |
0.33 |
R4944:Gprin3
|
UTSW |
6 |
59,331,644 (GRCm39) |
missense |
probably benign |
0.00 |
R5523:Gprin3
|
UTSW |
6 |
59,330,931 (GRCm39) |
nonsense |
probably null |
|
R5677:Gprin3
|
UTSW |
6 |
59,330,877 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5772:Gprin3
|
UTSW |
6 |
59,331,398 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5879:Gprin3
|
UTSW |
6 |
59,331,698 (GRCm39) |
missense |
probably benign |
|
R5881:Gprin3
|
UTSW |
6 |
59,331,771 (GRCm39) |
missense |
probably benign |
0.18 |
R6044:Gprin3
|
UTSW |
6 |
59,330,657 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6272:Gprin3
|
UTSW |
6 |
59,330,316 (GRCm39) |
nonsense |
probably null |
|
R7140:Gprin3
|
UTSW |
6 |
59,332,128 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7528:Gprin3
|
UTSW |
6 |
59,331,017 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7891:Gprin3
|
UTSW |
6 |
59,330,696 (GRCm39) |
missense |
probably benign |
0.22 |
R7970:Gprin3
|
UTSW |
6 |
59,330,150 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8129:Gprin3
|
UTSW |
6 |
59,330,844 (GRCm39) |
missense |
probably benign |
0.03 |
R8190:Gprin3
|
UTSW |
6 |
59,331,456 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8291:Gprin3
|
UTSW |
6 |
59,331,990 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8466:Gprin3
|
UTSW |
6 |
59,331,467 (GRCm39) |
missense |
probably benign |
0.33 |
R8466:Gprin3
|
UTSW |
6 |
59,331,466 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9135:Gprin3
|
UTSW |
6 |
59,330,273 (GRCm39) |
missense |
probably benign |
0.05 |
R9182:Gprin3
|
UTSW |
6 |
59,331,197 (GRCm39) |
missense |
probably benign |
0.02 |
R9762:Gprin3
|
UTSW |
6 |
59,331,236 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACCTTCAGGCTGTCTAGAGG -3'
(R):5'- TACAGGCAGTGGCAAGTGTG -3'
Sequencing Primer
(F):5'- CAGGCTGTCTAGAGGTTGCC -3'
(R):5'- AGAGCAGGTCTGTCTCTACCAG -3'
|
Posted On |
2014-11-11 |