Incidental Mutation 'R3893:Gprin3'
ID |
310038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gprin3
|
Ensembl Gene |
ENSMUSG00000045441 |
Gene Name |
GPRIN family member 3 |
Synonyms |
C030038J10Rik |
MMRRC Submission |
040805-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R3893 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
59324211-59403279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59331464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 281
(Y281C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051065]
|
AlphaFold |
Q8BWS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051065
AA Change: Y281C
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000051805 Gene: ENSMUSG00000045441 AA Change: Y281C
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610303G11Rik |
A |
T |
9: 98,068,864 (GRCm39) |
|
noncoding transcript |
Het |
Adam19 |
C |
T |
11: 46,019,665 (GRCm39) |
A455V |
probably damaging |
Het |
Akr1c19 |
G |
A |
13: 4,288,441 (GRCm39) |
D140N |
probably damaging |
Het |
Atoh1 |
A |
G |
6: 64,707,117 (GRCm39) |
T271A |
probably damaging |
Het |
Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Cadps |
A |
G |
14: 12,488,883 (GRCm38) |
|
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,631,245 (GRCm39) |
V61E |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,445,113 (GRCm39) |
R365G |
probably damaging |
Het |
Cracdl |
T |
A |
1: 37,670,539 (GRCm39) |
M134L |
probably benign |
Het |
Cyria |
T |
C |
12: 12,412,526 (GRCm39) |
V232A |
probably benign |
Het |
Dnajc18 |
A |
T |
18: 35,834,048 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
T |
A |
11: 103,087,583 (GRCm39) |
|
probably benign |
Het |
Gca |
A |
G |
2: 62,509,564 (GRCm39) |
Y89C |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,013,922 (GRCm39) |
Y31C |
probably benign |
Het |
Gem |
C |
T |
4: 11,705,889 (GRCm39) |
|
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,857,982 (GRCm39) |
T6A |
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,928,268 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,380,199 (GRCm39) |
Y1298H |
probably damaging |
Het |
Micu3 |
C |
T |
8: 40,819,265 (GRCm39) |
L315F |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,791,084 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,382,362 (GRCm39) |
Y2596* |
probably null |
Het |
Pnliprp2 |
A |
G |
19: 58,754,705 (GRCm39) |
S250G |
probably benign |
Het |
Prkcq |
A |
C |
2: 11,231,782 (GRCm39) |
E35A |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,391,083 (GRCm39) |
S1377R |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rsbn1l |
C |
T |
5: 21,110,838 (GRCm39) |
R500H |
probably damaging |
Het |
Sart3 |
C |
T |
5: 113,884,697 (GRCm39) |
E636K |
probably benign |
Het |
Skint3 |
A |
G |
4: 112,111,115 (GRCm39) |
K80R |
probably damaging |
Het |
Slc11a1 |
G |
A |
1: 74,423,865 (GRCm39) |
A398T |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,453,505 (GRCm39) |
E2887* |
probably null |
Het |
Tmc5 |
A |
C |
7: 118,244,592 (GRCm39) |
Y490S |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tnfsf8 |
G |
T |
4: 63,779,196 (GRCm39) |
T34K |
possibly damaging |
Het |
Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
Vkorc1l1 |
A |
T |
5: 130,011,112 (GRCm39) |
I109L |
probably benign |
Het |
Vmn1r214 |
A |
G |
13: 23,218,811 (GRCm39) |
T102A |
probably benign |
Het |
Wdr19 |
A |
G |
5: 65,385,635 (GRCm39) |
D579G |
possibly damaging |
Het |
Zc3h6 |
A |
G |
2: 128,858,060 (GRCm39) |
Y697C |
probably damaging |
Het |
Zfp955b |
T |
C |
17: 33,521,968 (GRCm39) |
I479T |
probably benign |
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 |
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'- ATGACACGCAGTTGCTCCTG -3'
(R):5'- TCAATAACATCACCGCGGTG -3'
Sequencing Primer
(F):5'- GCCCATTCTCTAGCTCAGGAG -3'
(R):5'- GTGTCCAGTGAACCTCCAGTAAG -3'
|
Posted On |
2015-04-17 |