Incidental Mutation 'R6672:Gramd2b'
| ID |
527182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd2b
|
| Ensembl Gene |
ENSMUSG00000001700 |
| Gene Name |
GRAM domain containing 2B |
| Synonyms |
9130427A09Rik, Gramd3, 9030613F08Rik |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
56533412-56636864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56565408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070166]
|
| AlphaFold |
Q6PEM6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070166
AA Change: E21G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
104 |
N/A |
INTRINSIC |
|
GRAM
|
110 |
177 |
3.06e-23 |
SMART |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
404 |
430 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0818 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably damaging |
Het |
|
| Other mutations in Gramd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01582:Gramd2b
|
APN |
18 |
56,618,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01903:Gramd2b
|
APN |
18 |
56,607,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02203:Gramd2b
|
APN |
18 |
56,612,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03210:Gramd2b
|
APN |
18 |
56,607,170 (GRCm39) |
missense |
probably benign |
|
|
PIT4283001:Gramd2b
|
UTSW |
18 |
56,622,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Gramd2b
|
UTSW |
18 |
56,607,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1623:Gramd2b
|
UTSW |
18 |
56,565,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4019:Gramd2b
|
UTSW |
18 |
56,612,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4125:Gramd2b
|
UTSW |
18 |
56,618,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Gramd2b
|
UTSW |
18 |
56,565,372 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4927:Gramd2b
|
UTSW |
18 |
56,618,523 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5495:Gramd2b
|
UTSW |
18 |
56,615,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Gramd2b
|
UTSW |
18 |
56,607,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6443:Gramd2b
|
UTSW |
18 |
56,618,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7030:Gramd2b
|
UTSW |
18 |
56,618,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Gramd2b
|
UTSW |
18 |
56,625,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7162:Gramd2b
|
UTSW |
18 |
56,618,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7854:Gramd2b
|
UTSW |
18 |
56,611,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Gramd2b
|
UTSW |
18 |
56,618,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Gramd2b
|
UTSW |
18 |
56,611,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCTGTCACTTTGCTTC -3'
(R):5'- ATGCATTCTTCGGTGAGGAGAG -3'
Sequencing Primer
(F):5'- AACGTGTCCATGTTGGCG -3'
(R):5'- GGATACATGGACACACACGGAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation