Incidental Mutation 'IGL01021:Gprin1'
| ID |
53944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gprin1
|
| Ensembl Gene |
ENSMUSG00000069227 |
| Gene Name |
G protein-regulated inducer of neurite outgrowth 1 |
| Synonyms |
Z16, GRIN1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54884484-54897486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54888182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 31
(S31C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
[ENSMUST00000099506]
[ENSMUST00000135343]
|
| AlphaFold |
Q3UNH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
48 |
122 |
8.62e-15 |
SMART |
|
CA
|
146 |
239 |
1.4e-2 |
SMART |
|
CA
|
263 |
351 |
2.19e-16 |
SMART |
|
CA
|
391 |
478 |
4.22e-9 |
SMART |
|
CA
|
503 |
584 |
2.15e-24 |
SMART |
|
CA
|
605 |
693 |
6.78e-22 |
SMART |
|
CA
|
715 |
805 |
1.78e-16 |
SMART |
|
CA
|
830 |
925 |
7.57e-11 |
SMART |
|
CA
|
950 |
1042 |
7.1e-2 |
SMART |
|
low complexity region
|
1121 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1153 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099506
AA Change: S31C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: S31C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
790 |
929 |
4.2e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135343
AA Change: S31C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: S31C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
787 |
932 |
2.6e-49 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
| Other mutations in Gprin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02001:Gprin1
|
APN |
13 |
54,887,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03188:Gprin1
|
APN |
13 |
54,886,465 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03308:Gprin1
|
APN |
13 |
54,887,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0980:Gprin1
|
UTSW |
13 |
54,888,214 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1638:Gprin1
|
UTSW |
13 |
54,887,689 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1942:Gprin1
|
UTSW |
13 |
54,887,752 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2145:Gprin1
|
UTSW |
13 |
54,886,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2215:Gprin1
|
UTSW |
13 |
54,888,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2338:Gprin1
|
UTSW |
13 |
54,886,238 (GRCm39) |
splice site |
probably null |
|
|
R3014:Gprin1
|
UTSW |
13 |
54,886,288 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4634:Gprin1
|
UTSW |
13 |
54,885,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Gprin1
|
UTSW |
13 |
54,887,770 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4733:Gprin1
|
UTSW |
13 |
54,887,770 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4903:Gprin1
|
UTSW |
13 |
54,885,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Gprin1
|
UTSW |
13 |
54,885,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Gprin1
|
UTSW |
13 |
54,887,576 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5979:Gprin1
|
UTSW |
13 |
54,887,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6544:Gprin1
|
UTSW |
13 |
54,888,124 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7007:Gprin1
|
UTSW |
13 |
54,886,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Gprin1
|
UTSW |
13 |
54,886,855 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Gprin1
|
UTSW |
13 |
54,887,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7385:Gprin1
|
UTSW |
13 |
54,886,423 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7916:Gprin1
|
UTSW |
13 |
54,887,263 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8696:Gprin1
|
UTSW |
13 |
54,885,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Gprin1
|
UTSW |
13 |
54,886,778 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9178:Gprin1
|
UTSW |
13 |
54,885,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9285:Gprin1
|
UTSW |
13 |
54,886,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Gprin1
|
UTSW |
13 |
54,887,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9711:Gprin1
|
UTSW |
13 |
54,886,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Gprin1
|
UTSW |
13 |
54,888,210 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2013-06-28 |
Incidental Mutation