Incidental Mutation 'R5879:Gprin3'
ID |
455711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gprin3
|
Ensembl Gene |
ENSMUSG00000045441 |
Gene Name |
GPRIN family member 3 |
Synonyms |
C030038J10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R5879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
59324211-59403279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59331698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 203
(I203R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051065]
|
AlphaFold |
Q8BWS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051065
AA Change: I203R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000051805 Gene: ENSMUSG00000045441 AA Change: I203R
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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
C |
T |
7: 44,796,930 (GRCm39) |
W66* |
probably null |
Het |
Arhgap39 |
T |
C |
15: 76,636,007 (GRCm39) |
D76G |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,550,924 (GRCm39) |
|
probably null |
Het |
C1qtnf2 |
T |
C |
11: 43,376,835 (GRCm39) |
M99T |
probably damaging |
Het |
Cyren |
A |
G |
6: 34,851,593 (GRCm39) |
L87P |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,912,379 (GRCm39) |
C392Y |
possibly damaging |
Het |
Ephb4 |
C |
A |
5: 137,358,678 (GRCm39) |
P287Q |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,941,485 (GRCm39) |
R126L |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,271,719 (GRCm39) |
M858V |
probably damaging |
Het |
Insr |
G |
T |
8: 3,248,173 (GRCm39) |
Y457* |
probably null |
Het |
Ipo13 |
G |
A |
4: 117,760,400 (GRCm39) |
T649I |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,392,678 (GRCm39) |
D818G |
possibly damaging |
Het |
Llgl1 |
G |
A |
11: 60,603,806 (GRCm39) |
G1016R |
probably benign |
Het |
Loxl4 |
A |
G |
19: 42,596,066 (GRCm39) |
V142A |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,340,992 (GRCm39) |
I464V |
probably benign |
Het |
Mycs |
C |
A |
X: 5,380,131 (GRCm39) |
K316N |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,103,839 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,781,909 (GRCm39) |
F516S |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,882,743 (GRCm39) |
S540G |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,242 (GRCm39) |
T653S |
probably damaging |
Het |
Or8s16 |
C |
T |
15: 98,211,369 (GRCm39) |
V21I |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,500,685 (GRCm39) |
N1468K |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,611,503 (GRCm39) |
I258T |
probably damaging |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,161 (GRCm39) |
Y487F |
possibly damaging |
Het |
Prop1 |
C |
T |
11: 50,844,153 (GRCm39) |
V27M |
probably damaging |
Het |
Rfx4 |
T |
G |
10: 84,650,625 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,422,437 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,595,260 (GRCm39) |
F541I |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,699,807 (GRCm39) |
V1057E |
possibly damaging |
Het |
Synpo2 |
A |
T |
3: 122,907,946 (GRCm39) |
W457R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,193,721 (GRCm39) |
N238Y |
possibly damaging |
Het |
Tiam2 |
T |
A |
17: 3,487,540 (GRCm39) |
M687K |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,346,438 (GRCm39) |
E1866G |
probably benign |
Het |
Tspan8 |
T |
C |
10: 115,669,156 (GRCm39) |
S64P |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,402,265 (GRCm39) |
G122D |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,237,111 (GRCm39) |
E53G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,071 (GRCm39) |
D963G |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,764,226 (GRCm39) |
Y368N |
possibly damaging |
Het |
Wdr5 |
A |
G |
2: 27,418,323 (GRCm39) |
T208A |
probably benign |
Het |
Zbtb18 |
A |
G |
1: 177,275,936 (GRCm39) |
Y423C |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,839,696 (GRCm39) |
|
probably null |
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 |
R2403:Gprin3
|
UTSW |
6 |
59,331,134 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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'- TCTGAAGAACATGTGGCCCC -3'
(R):5'- AGGGATGCACCAAATACTAGC -3'
Sequencing Primer
(F):5'- AAGAACATGTGGCCCCTTTGC -3'
(R):5'- CACCTGTGCGGTACCTGAAG -3'
|
Posted On |
2017-02-10 |