Incidental Mutation 'IGL02080:Gprin3'
ID |
186096 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02080
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
59324211-59403279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59331176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Methionine
at position 377
(R377M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051065]
|
AlphaFold |
Q8BWS5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051065
AA Change: R377M
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000051805 Gene: ENSMUSG00000045441 AA Change: R377M
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably 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 |
|
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 |
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 |
|
Posted On |
2014-05-07 |