Incidental Mutation 'IGL02001:Gprin1'
| ID |
183057 |
| 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 # |
IGL02001
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54884484-54897486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54887005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 423
(E423G)
|
| 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: E423G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: E423G
| 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: E423G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: E423G
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
| Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
| Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
| Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
| Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
| Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
| Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
| Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
| Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
| Other mutations in Gprin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Gprin1
|
APN |
13 |
54,888,182 (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 |
2014-05-07 |
Incidental Mutation