Incidental Mutation 'R3830:Gprin3'
ID |
273945 |
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: 0.052)
|
Stock # |
R3830 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
59324211-59403279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59330618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 563
(E563G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051065]
|
AlphaFold |
Q8BWS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051065
AA Change: E563G
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000051805 Gene: ENSMUSG00000045441 AA Change: E563G
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: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agpat5 |
A |
G |
8: 18,929,621 (GRCm39) |
E250G |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,294,670 (GRCm39) |
T960S |
probably damaging |
Het |
Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
Capn1 |
A |
T |
19: 6,044,877 (GRCm39) |
L465Q |
probably damaging |
Het |
Cd300c |
A |
G |
11: 114,850,453 (GRCm39) |
F117L |
probably benign |
Het |
Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
Cspg4 |
T |
G |
9: 56,804,905 (GRCm39) |
D1905E |
probably damaging |
Het |
Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
Drd2 |
T |
A |
9: 49,313,443 (GRCm39) |
V204D |
probably damaging |
Het |
Gclc |
A |
T |
9: 77,699,242 (GRCm39) |
I520L |
probably benign |
Het |
Gpat3 |
A |
G |
5: 101,032,252 (GRCm39) |
D183G |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Grm8 |
A |
T |
6: 27,761,228 (GRCm39) |
L332* |
probably null |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,520,643 (GRCm39) |
S198N |
probably benign |
Het |
Kcna2 |
T |
C |
3: 107,012,112 (GRCm39) |
I231T |
probably benign |
Het |
Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
Or2b11 |
G |
T |
11: 59,462,427 (GRCm39) |
N46K |
probably damaging |
Het |
Pigb |
T |
C |
9: 72,924,755 (GRCm39) |
N468S |
probably benign |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
Ptges3l |
T |
C |
11: 101,312,443 (GRCm39) |
*67W |
probably null |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Six2 |
G |
T |
17: 85,992,615 (GRCm39) |
S296Y |
probably damaging |
Het |
Slc5a12 |
T |
A |
2: 110,463,081 (GRCm39) |
C392* |
probably null |
Het |
Snx5 |
A |
T |
2: 144,096,821 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,767,997 (GRCm39) |
F744Y |
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 |
|
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 |
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'- CTGTCACACTGAGCTCCTTCAG -3'
(R):5'- TGGAGGTGCCAACAAAGACTAC -3'
Sequencing Primer
(F):5'- AGCTCCTTCAGGAACTCGCTG -3'
(R):5'- CTTGGACCCCACTGATAA -3'
|
Posted On |
2015-04-02 |